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    Clinical Trial Results:
    An Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed With Fabry Disease

    Summary
    EudraCT number
    2014-004995-49
    Trial protocol
    GB   PL   FR  
    Global end of trial date
    20 Nov 2018

    Results information
    Results version number
    v2(current)
    This version publication date
    18 Mar 2021
    First version publication date
    18 Dec 2019
    Other versions
    v1
    Version creation reason
    • New data added to full data set
    • Correction of full data set
    Add endpoint presenting plasma chitotriosidase results, make corrections to data for gastrointestinal symptoms endpoints

    Trial information

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    Trial identification
    Sponsor protocol code
    LTS14116
    Additional study identifiers
    ISRCTN number
    -
    US NCT number
    NCT02489344
    WHO universal trial number (UTN)
    U1111-1165-9049
    Sponsors
    Sponsor organisation name
    Genzyme Corporation
    Sponsor organisation address
    500 Kendall Street, Cambridge, MA, United States, 02142
    Public contact
    Trial Transparency Team, Genzyme Corporation, Contact-US@sanofi.com
    Scientific contact
    Trial Transparency Team, Genzyme Corporation, Contact-US@sanofi.com
    Paediatric regulatory details
    Is trial part of an agreed paediatric investigation plan (PIP)
    No
    Does article 45 of REGULATION (EC) No 1901/2006 apply to this trial?
    No
    Does article 46 of REGULATION (EC) No 1901/2006 apply to this trial?
    No
    Results analysis stage
    Analysis stage
    Final
    Date of interim/final analysis
    18 Jan 2019
    Is this the analysis of the primary completion data?
    No
    Global end of trial reached?
    Yes
    Global end of trial date
    20 Nov 2018
    Was the trial ended prematurely?
    No
    General information about the trial
    Main objective of the trial
    To assess the long-term safety of GZ/SAR402671 in adult male subjects with Fabry disease who previously completed study ACT13739 (NCT02228460). In this LTS14116 results record, all presentations and summaries include all subjects who received at least 1 dose of investigational medicinal product (IMP) during the ACT13739 study, and all data collected during ACT13739 and LTS14116 studies were included in analyses. As such, overall enrolment for the trial (enrolled per country and per age group) is presented for the previously completed study ACT13739 (refer to below tabular summary). Actual enrolment in LTS14116 study only was 8 subjects (France 1, Poland 1, Russian Federation 1, United Kingdom 1, and United States 4).
    Protection of trial subjects
    Subjects were fully informed of all pertinent aspects of the clinical trial as well as the possibility to discontinue at any time in language and terms appropriate for the subject and considering the local culture. During the course of the trial, subjects were provided with individual subject cards indicating the nature of the trial the subject is participating, contact details and any information needed in the event of a medical emergency. Collected personal data and human biological samples were processed in compliance with the Sanofi-Aventis Group Personal Data Protection Charter ensuring that the Group abides by the laws governing personal data protection in force in all countries in which it operates.
    Background therapy
    -
    Evidence for comparator
    -
    Actual start date of recruitment
    07 Jul 2015
    Long term follow-up planned
    No
    Independent data monitoring committee (IDMC) involvement?
    Yes
    Population of trial subjects
    Number of subjects enrolled per country
    Country: Number of subjects enrolled
    Poland: 1
    Country: Number of subjects enrolled
    United Kingdom: 4
    Country: Number of subjects enrolled
    France: 1
    Country: Number of subjects enrolled
    Russian Federation: 1
    Country: Number of subjects enrolled
    United States: 4
    Worldwide total number of subjects
    11
    EEA total number of subjects
    6
    Number of subjects enrolled per age group
    In utero
    0
    Preterm newborn - gestational age < 37 wk
    0
    Newborns (0-27 days)
    0
    Infants and toddlers (28 days-23 months)
    0
    Children (2-11 years)
    0
    Adolescents (12-17 years)
    0
    Adults (18-64 years)
    11
    From 65 to 84 years
    0
    85 years and over
    0

    Subject disposition

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    Recruitment
    Recruitment details
    Subjects who successfully completed 26 weeks of treatment in prior ACT13739 study (NCT02228460) were eligible to continue their treatment for up to 30 additional months in this extension study LTS14116. Eleven subjects had enrolled and were treated in ACT13739 study, and 9 completed study. Of these 9 subjects, 8 entered extension study.

    Pre-assignment
    Screening details
    In extension study, subjects continued on same dose regimen they had received in initial study. Two subjects in LTS14116 study completed treatment and did not discontinue early, but were counted as not completed study due to no record of completion.

    Period 1
    Period 1 title
    ACT13739 (Initial Study): 26 Weeks
    Is this the baseline period?
    Yes
    Allocation method
    Not applicable
    Blinding used
    Not blinded

    Arms
    Arm title
    GZ/SAR402671
    Arm description
    Subjects with Fabry disease received GZ/SAR402671 15 milligrams (mg) once daily orally for 36 months during combined ACT13739/LTS14116 treatment period.
    Arm type
    Experimental

    Investigational medicinal product name
    GZ/SAR402671
    Investigational medicinal product code
    Other name
    Pharmaceutical forms
    Capsule, hard
    Routes of administration
    Oral use
    Dosage and administration details
    15 mg hard gelatin capsules once daily orally.

    Number of subjects in period 1
    GZ/SAR402671
    Started
    11
    Completed
    9
    Not completed
    2
         Adverse Event
    1
         Lost to follow-up
    1
    Period 2
    Period 2 title
    LTS14116 (Extension Study): 31 Months
    Is this the baseline period?
    No
    Allocation method
    Not applicable
    Blinding used
    Not blinded

    Arms
    Arm title
    GZ/SAR402671
    Arm description
    Subjects received GZ/SAR402671 15 mg once daily orally for 36 months during combined ACT13739/LTS14116 treatment period.
    Arm type
    Experimental

    Investigational medicinal product name
    GZ/SAR402671
    Investigational medicinal product code
    Other name
    Pharmaceutical forms
    Capsule, hard
    Routes of administration
    Oral use
    Dosage and administration details
    15 mg hard gelatin capsules once daily orally.

    Number of subjects in period 2 [1]
    GZ/SAR402671
    Started
    8
    Completed
    5
    Not completed
    3
         Adverse Event
    1
         Treatment completed/Study not completed
    2
    Notes
    [1] - The number of subjects starting the period is not consistent with the number completing the preceding period. It is expected the number of subjects starting the subsequent period will be the same as the number completing the preceding period.
    Justification: Eleven subjects were enrolled and treated in ACT13739 study. Of which 9 subjects completed the study. Out of which, 8 entered the extension study.

    Baseline characteristics

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    Baseline characteristics reporting groups
    Reporting group title
    GZ/SAR402671
    Reporting group description
    Subjects with Fabry disease received GZ/SAR402671 15 milligrams (mg) once daily orally for 36 months during combined ACT13739/LTS14116 treatment period.

    Reporting group values
    GZ/SAR402671 Total
    Number of subjects
    11 11
    Age categorical
    Units: Subjects
    Age continuous
    Units: years
        arithmetic mean (standard deviation)
    26.5 ± 7.6 -
    Gender categorical
    Units: Subjects
        Female
    0 0
        Male
    11 11
    Race
    Units: Subjects
        Caucasian/White
    8 8
        Other
    3 3

    End points

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    End points reporting groups
    Reporting group title
    GZ/SAR402671
    Reporting group description
    Subjects with Fabry disease received GZ/SAR402671 15 milligrams (mg) once daily orally for 36 months during combined ACT13739/LTS14116 treatment period.
    Reporting group title
    GZ/SAR402671
    Reporting group description
    Subjects received GZ/SAR402671 15 mg once daily orally for 36 months during combined ACT13739/LTS14116 treatment period.

    Primary: Number of Subjects With Treatment Emergent Adverse Events (TEAEs)

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    End point title
    Number of Subjects With Treatment Emergent Adverse Events (TEAEs) [1]
    End point description
    Any untoward medical occurrence in a subject who received study drug was considered an adverse event (AE) without regard to possibility of causal relationship with this treatment. TEAEs were defined as AEs that developed or worsened during TEAE period (period from the first administration of study drug in ACT13739 through the last administration of the study drug in the combined ACT13739/LTS14116 treatment period plus 1 month or end of study participation for subject, whichever occurred first). For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on safety population: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis.
    End point type
    Primary
    End point timeframe
    From baseline of ACT13739 study up to 37 months post-ACT13739 baseline
    Notes
    [1] - No statistical analyses have been specified for this primary end point. It is expected there is at least one statistical analysis for each primary end point.
    Justification: As the endpoint is descriptive in nature, no statistical analysis is provided.
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
        number (not applicable)
    9
    No statistical analyses for this end point

    Primary: Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Haematological Parameters

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    End point title
    Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Haematological Parameters [2]
    End point description
    Criteria for potentially clinically significant abnormalities: •Haemoglobin: less than or equal to (<=) 115 grams per litre (g/L); greater than or equal to (>=)185 g/L; decreased from baseline (DFB) >=20 g/L •Haematocrit: <=0.37 volume/volume (v/v); >=0.55 v/v •Erythrocytes: >=6 Tera/L •Platelets: lesser than (<) 100 Giga/L; >=700 Giga/L •Leukocytes: <3.0 Giga/L (Non-Black [NB]) or <2.0 Giga/L (Black [B]); >=16.0 Giga/L •Neutrophils: <1.5 Giga/L (NB) or <1.0 Giga/L (B); •Lymphocytes: greater than (>) 4.0 Giga/L •Monocytes: >0.7 Giga/L •Basophils: >0.1 Giga/L •Eosinophils: >0.5 Giga/L or >upper limit of normal (ULN) (if ULN >=0.5 Giga/L). For the analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on safety population: all subjects who received at least 1 dose of IMP during ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis.
    End point type
    Primary
    End point timeframe
    From baseline of ACT13739 study up to 37 months post-ACT13739 baseline
    Notes
    [2] - No statistical analyses have been specified for this primary end point. It is expected there is at least one statistical analysis for each primary end point.
    Justification: As the endpoint is descriptive in nature, no statistical analysis is provided.
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Haemoglobin <=115 g/L
    1
        Haemoglobin >=185 g/L
    0
        Haemoglobin DFB >=20 g/L
    0
        Haematocrit <=0.37 v/v
    6
        Haematocrit >0.55 v/v
    0
        Erythrocytes: >=6 Tera/L
    0
        Platelets <100 Giga/L
    0
        Platelets >=700 Giga/L
    0
        Leukocytes <3.0 Giga/L (NB) or <2.0 Giga/L (B)
    0
        Leukocytes >=16.0 Giga/L
    0
        Neutrophils <1.5 Giga/L (NB) or <1.0 Giga/L (B)
    0
        Lymphocytes >4.0 Giga/L
    0
        Monocytes >0.7 Giga/L
    2
        Basophils >0.1 Giga/L
    1
        Eosinophils >0.5 Giga/L or >ULN (ULN >=0.5 Giga/L)
    0
    No statistical analyses for this end point

    Primary: Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Electrolytes

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    End point title
    Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Electrolytes [3]
    End point description
    Criteria for potentially clinically significant abnormalities: •Sodium: <=129 millimoles (mmol)/L; >=160 mmol/L •Potassium: <3 mmol/L; >=5.5 mmol/L •Chloride: <80 mmol/L; >115 mmol/L. Analysis was performed on safety population: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis.
    End point type
    Primary
    End point timeframe
    From baseline of ACT13739 study up to 37 months post-ACT13739 baseline
    Notes
    [3] - No statistical analyses have been specified for this primary end point. It is expected there is at least one statistical analysis for each primary end point.
    Justification: As the endpoint is descriptive in nature, no statistical analysis is provided.
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Sodium <=129 mmol/L
    0
        Sodium >=160 mmol/L
    0
        Potassium <3 mmol/L
    0
        Potassium >=5.5 mmol/L
    0
        Chloride <80 mmol/L
    0
        Chloride >115 mmol/L
    0
    No statistical analyses for this end point

    Primary: Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Liver Function Parameters

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    End point title
    Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Liver Function Parameters [4]
    End point description
    Criteria for potentially clinically significant abnormalities: •Alanine Aminotransferase (ALT): >3 ULN; >5 ULN; >10 ULN and >20 ULN •Aspartate aminotransferase (AST): >3 ULN; >5 ULN; >10 ULN and >20 ULN •Alkaline phosphatase: >1.5 ULN •Bilirubin: >1.5 ULN; >2 ULN Analysis was performed on safety population: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis.
    End point type
    Primary
    End point timeframe
    From baseline of ACT13739 study up to 37 months post-ACT13739 baseline
    Notes
    [4] - No statistical analyses have been specified for this primary end point. It is expected there is at least one statistical analysis for each primary end point.
    Justification: As the endpoint is descriptive in nature, no statistical analysis is provided.
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        ALT >3 ULN
    0
        ALT >5 ULN
    0
        ALT >10 ULN
    0
        ALT >20 ULN
    0
        AST >3 ULN
    0
        AST >5 ULN
    0
        AST >10 ULN
    0
        AST >20 ULN
    0
        Alkaline Phosphatase >1.5 ULN
    0
        Bilirubin >1.5 ULN
    0
        Bilirubin >2 ULN
    0
    No statistical analyses for this end point

    Primary: Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Metabolic Parameters

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    End point title
    Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Metabolic Parameters [5]
    End point description
    Criteria for potentially clinically significant abnormalities: •Glucose: <=3.9 mmol/L and < lower limits of normal (LLN); >=11.1 mmol/L (unfasted [unfas]) or >=7 mmol/L (fasted [fas]) •Lipase: >= 3 ULN •C Reactive Protein (CRP): > 2 ULN or > 10 mg/L (if ULN not provided) Analysis was performed on safety population: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis.
    End point type
    Primary
    End point timeframe
    From baseline of ACT13739 study up to 37 months post-ACT13739 baseline
    Notes
    [5] - No statistical analyses have been specified for this primary end point. It is expected there is at least one statistical analysis for each primary end point.
    Justification: As the endpoint is descriptive in nature, no statistical analysis is provided.
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Glucose <=3.9 mmol/L and <LLN
    3
        Glucose >=11.1 mmol/L (unfas) or >=7 mmol/L (fas)
    1
        Albumin <=25 g/L
    0
        Lipase >=3 ULN
    0
        CRP >2 ULN or >10 mg/L (if ULN not provided)
    2
    No statistical analyses for this end point

    Primary: Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Renal Function Parameters

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    End point title
    Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Renal Function Parameters [6]
    End point description
    Criteria for potentially clinically significant abnormalities: • Creatinine: >=150 micromoles per litre (mcmol/L) (Adults); >=30 percent (%) change from baseline; >= 100% change from baseline • Blood urea nitrogen: >=17 mmol/L • Urate: <120 mcmol/L; >408 mcmol/L. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on safety population: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis.
    End point type
    Primary
    End point timeframe
    From baseline of ACT13739 study up to 37 months post-ACT13739 baseline
    Notes
    [6] - No statistical analyses have been specified for this primary end point. It is expected there is at least one statistical analysis for each primary end point.
    Justification: As the endpoint is descriptive in nature, no statistical analysis is provided.
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Creatinine >=150 mcmol/L
    0
        Creatinine >=30% change from baseline
    2
        Creatinine >=100% change from baseline
    0
        Blood Urea Nitrogen >=17 mmol/L
    0
        Urate <120 mcmol/L
    0
        Urate >408 mcmol/L
    5
    No statistical analyses for this end point

    Primary: Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Urinalysis

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    End point title
    Number of Subjects With Potentially Clinically Significant Laboratory Abnormalities: Urinalysis [7]
    End point description
    Criteria with potentially clinically significant urine abnormalities: pH: <=4.6; pH: >=8.0. Analysis was performed on safety population: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis.
    End point type
    Primary
    End point timeframe
    From baseline of ACT13739 study up to 37 months post-ACT13739 baseline
    Notes
    [7] - No statistical analyses have been specified for this primary end point. It is expected there is at least one statistical analysis for each primary end point.
    Justification: As the endpoint is descriptive in nature, no statistical analysis is provided.
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        pH <=4.6
    0
        pH >=8.0
    0
    No statistical analyses for this end point

    Primary: Number of Subjects With Potentially Clinically Significant Abnormalities: Vital Signs

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    End point title
    Number of Subjects With Potentially Clinically Significant Abnormalities: Vital Signs [8]
    End point description
    Criteria for potentially clinically significant vital sign abnormalities: • Systolic blood pressure (SBP) supine: <=95 millimetres of mercury (mmHg) and DFB >=20 mmHg; >=160 mmHg and increase from baseline (IFB) >=20 mmHg • Diastolic blood pressure (DBP) supine: <=45 mmHg and DFB >=10 mmHg; >=110 mmHg and IFB >=10 mmHg • Heart rate (HR) supine: <=50 beats per minute (bpm) and DFB >=20 bpm; >=120 bpm and IFB >=20 bpm • Weight: >=5% DFB; >=5% IFB. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on safety population: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis.
    End point type
    Primary
    End point timeframe
    From baseline of ACT13739 study up to 37 months post-ACT13739 baseline
    Notes
    [8] - No statistical analyses have been specified for this primary end point. It is expected there is at least one statistical analysis for each primary end point.
    Justification: As the endpoint is descriptive in nature, no statistical analysis is provided.
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        SBP (supine) <=95 mmHg and DFB >=20 mmHg
    0
        SBP (supine) >=160 mmHg and IFB >=20 mmHg
    0
        DBP (supine) <=45 mmHg and DFB >=10 mmHg
    0
        DBP (supine) >=110 mmHg and IFB >=10 mmHg
    0
        HR (supine) <=50 bpm and DFB >= 20 bpm
    1
        HR (supine) >=120 bpm and IFB >=20 bpm
    0
        Weight >=5% DFB
    3
        Weight >=5% IFB
    2
    No statistical analyses for this end point

    Primary: Number of Subjects With Potentially Clinically Significant Abnormalities: Electrocardiogram (ECG)

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    End point title
    Number of Subjects With Potentially Clinically Significant Abnormalities: Electrocardiogram (ECG) [9]
    End point description
    Criteria for potentially clinically significant ECG abnormalities: • ECG mean HR: <30 bpm; <30 bpm and DFB >=20 bpm; <40 bpm; <40 bpm and DFB >=20 bpm; <50 bpm; <50 bpm and DFB >=20 bpm; >90 bpm; <90 bpm and DFB >=20 bpm; >100 bpm; <100 bpm and DFB >=20 bpm; >120 bpm; <120 bpm and DFB >=20 bpm • PR Interval: >200 milliseconds (ms); >200 ms and IFB >=25%; >220 ms; >220 ms and IFB >=25%; >240 ms; >240 ms and IFB >=25% • QRS duration: >110 ms; >110 ms and IFB >=25%; >120 ms; >120 ms and IFB >=25% • QTc Bazett (QTcB) interval: >450 ms; >480 ms; >500 ms; IFB >30 and <=60 ms, IFB >60 ms • QTc Fridericia (QTc F): >450 ms; >480 ms; >500 ms; IFB >30 and <=60 ms; IFB >60 ms • QT Interval: >500 ms. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on safety population: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis.
    End point type
    Primary
    End point timeframe
    From baseline of ACT13739 study up to 37 months post-ACT13739 baseline
    Notes
    [9] - No statistical analyses have been specified for this primary end point. It is expected there is at least one statistical analysis for each primary end point.
    Justification: As the endpoint is descriptive in nature, no statistical analysis is provided.
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        ECG Mean HR <30 bpm
    0
        ECG Mean HR <30 bpm and DFB >=20 bpm
    0
        ECG Mean HR <40 bpm
    0
        ECG Mean HR <40 bpm and DFB >=20 bpm
    0
        ECG Mean HR <50 bpm
    1
        ECG Mean HR <50 bpm and DFB >=20 bpm
    0
        ECG Mean HR >90 bpm
    1
        ECG Mean HR <90 bpm and DFB >=20 bpm
    0
        ECG Mean HR >100 bpm
    0
        ECG Mean HR <100 bpm and DFB >=20 bpm
    0
        ECG Mean HR >120 bpm
    0
        ECG Mean HR <120 bpm and DFB >=20 bpm
    0
        PR interval >200 ms
    2
        PR interval >200 ms and IFB >=25%
    0
        PR interval >220 ms
    0
        PR interval >220 ms and IFB >=25%
    0
        PR >240 ms
    0
        PR interval >240 ms and IFB >=25%
    0
        QRS duration >110 ms
    1
        QRS duration >110 ms and IFB >=25%
    0
        QRS duration >120 ms
    0
        QRS duration >120 ms and IFB >=25%
    0
        QTcB interval >450 ms
    0
        QTcB interval >480 ms
    0
        QTc B interval >500 ms
    0
        QTcB interval IFB >30 and <=60 ms
    1
        QTcB interval IFB >60 ms
    0
        QTcF interval >450 ms
    0
        QTc F interval >480 ms
    0
        QTcF interval >500 ms
    0
        QTcF interval IFB >30 and <=60 ms
    0
        QTcF interval IFB >60 ms
    0
        QT interval >500 ms
    0
    No statistical analyses for this end point

    Secondary: Change From Baseline in Plasma Globotriaosylceramide (GL-3) Concentration at Weeks 26, 52, 104 and 156

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    End point title
    Change From Baseline in Plasma Globotriaosylceramide (GL-3) Concentration at Weeks 26, 52, 104 and 156
    End point description
    Change from baseline in plasma GL-3 was obtained by subtracting baseline value from post-baseline value at Weeks 26, 52, 104 and 156. Concentration of GL-3 in plasma was determined using a validated liquid chromatography tandem mass spectrometry (LC-MS/MS) method. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: micrograms per millilitre (mcg/ mL)
    arithmetic mean (standard deviation)
        Week 26 (n = 9)
    -3.62 ± 1.07
        Week 52 (n = 7)
    -5.06 ± 1.04
        Week 104 (n = 7)
    -6.32 ± 2.53
        Week 156 (n = 7)
    -6.97 ± 2.27
    No statistical analyses for this end point

    Secondary: Change From Baseline in Plasma Lyso Globotriaosylceramide (Lyso GL-3) Concentration at Weeks 26, 52, 104 and 156

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    End point title
    Change From Baseline in Plasma Lyso Globotriaosylceramide (Lyso GL-3) Concentration at Weeks 26, 52, 104 and 156
    End point description
    Change from baseline in plasma GL-3 was obtained by subtracting baseline value from post-baseline value at Weeks 26, 52, 104 and 156. Concentration of lyso-GL-3 in plasma was determined using a validated LC-MS/MS method. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: nanograms per mL (ng/mL)
    arithmetic mean (standard deviation)
        Week 26 (n = 9)
    -30.99 ± 22.83
        Week 52 (n = 7)
    -37.10 ± 20.69
        Week 104 (n = 7)
    -39.84 ± 18.12
        Week 156 (n = 7)
    -48.13 ± 15.65
    No statistical analyses for this end point

    Secondary: Change From Baseline in Plasma Glucosylceramide (GL-1) Concentration at Weeks 26, 52, 104 and 156

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    End point title
    Change From Baseline in Plasma Glucosylceramide (GL-1) Concentration at Weeks 26, 52, 104 and 156
    End point description
    Change from baseline in plasma GL-1 was obtained by subtracting baseline value from post-baseline value at Weeks 26, 52, 104 and 156. Concentration of GL-1 in plasma was determined using a validated LC-MS/MS method. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: mcg/mL
    arithmetic mean (standard deviation)
        Week 26 (n = 9)
    -3.26 ± 1.43
        Week 52 (n = 7)
    -3.58 ± 0.85
        Week 104 (n = 7)
    -3.70 ± 0.85
        Week 156 (n = 7)
    -3.23 ± 1.11
    No statistical analyses for this end point

    Secondary: Change From Baseline in Plasma Monosialodihexosylganglioside (GM3) Concentration at Weeks 26, 52, 104 and 156

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    End point title
    Change From Baseline in Plasma Monosialodihexosylganglioside (GM3) Concentration at Weeks 26, 52, 104 and 156
    End point description
    Change from baseline in plasma GM3 was obtained by subtracting baseline value from post-baseline value at Weeks 26, 52, 104 and 156. Concentration of GM3 in plasma was determined using a validated LC-MS/MS method. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: mcg/mL
    arithmetic mean (standard deviation)
        Week 26 (n = 9)
    -10.77 ± 6.02
        Week 52 (n = 7)
    -8.84 ± 4.55
        Week 104 (n = 7)
    -9.92 ± 3.26
        Week 156 (n = 7)
    -8.12 ± 5.37
    No statistical analyses for this end point

    Secondary: Change From Baseline in Urine GL-3 Concentration At Weeks 26, 52, 104 and 156

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    End point title
    Change From Baseline in Urine GL-3 Concentration At Weeks 26, 52, 104 and 156
    End point description
    Change from baseline in urine GL-3 was obtained by subtracting baseline value from post-baseline value at Weeks 26, 52, 104 and 156. Concentration of GL-3 in urine was determined using a validated LC-MS/MS method. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: mg/mmol creatinine (Cr)
    arithmetic mean (standard deviation)
        Week 26 (n = 8)
    -0.25 ± 0.19
        Week 52 (n = 6)
    -0.20 ± 0.22
        Week 104 (n = 7)
    -0.18 ± 0.22
        Week 156 (n = 7)
    -0.18 ± 0.27
    No statistical analyses for this end point

    Secondary: Change From Baseline in High Sensitivity Cardiac Troponin T At Weeks 26, 52, 104 and 156

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    End point title
    Change From Baseline in High Sensitivity Cardiac Troponin T At Weeks 26, 52, 104 and 156
    End point description
    Change from baseline in high sensitivity cardiac troponin T was obtained by subtracting baseline value from postbaseline value at Weeks 26, 52, 104 and 156. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: mcg/L
    arithmetic mean (standard deviation)
        Week 26 (n = 9)
    0.0000 ± 0.0000
        Week 52 (n = 5)
    0.0105 ± 0.0241
        Week 104 (n = 7)
    -0.0015 ± 0.0000
        Week 156 (n = 7)
    0.0006 ± 0.0027
    No statistical analyses for this end point

    Secondary: Change From Baseline in Podocyturia Counts (Per Milligram of Creatinine) At Weeks 12, 26 and 156

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    End point title
    Change From Baseline in Podocyturia Counts (Per Milligram of Creatinine) At Weeks 12, 26 and 156
    End point description
    Change from baseline in podocyturia was obtained by subtracting baseline value from post-baseline value at Weeks 12, 26 and 156. Urine samples were processed to identify podocyte (podocalyxin, PCX) and parietal cell (claudin 1, CL1) markers. PCX +/CL1 negative cells were identified as podocytes and PCX +/CL1 positive cells as parietal cells with podocyte phenotype. All counts were corrected for urine Cr. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 12, 26 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: Count of podocytes/mg Cr
    arithmetic mean (standard deviation)
        Week 12 (n = 9)
    -1.40 ± 2.69
        Week 26 (n = 7)
    -1.65 ± 2.97
        Week 156 (n = 4)
    -2.73 ± 3.97
    No statistical analyses for this end point

    Secondary: Summary of Shifts From Baseline in Skin GL-3 Score in Superficial Capillary Endothelial Cells Over Time: Number of Subjects in Categories of Shift in GL-3 Score

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    End point title
    Summary of Shifts From Baseline in Skin GL-3 Score in Superficial Capillary Endothelial Cells Over Time: Number of Subjects in Categories of Shift in GL-3 Score
    End point description
    Skin biopsies were done to score GL-3 accumulation/inclusions by light microscopy. Three independent pathologists scored GL-3 clearance by using an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe), where higher score indicated more severe condition. A single score per subject per time point was derived by taking score rated by a majority of pathologists; if a majority score could not be derived, median score was used. Data were summarised and reported in terms of number of subjects with shift from baseline GL-3 score to Weeks 12, 26, 52 and 156 GL-3 score. Shift to lower score from baseline indicated less severe condition at that respective time point. Baseline was defined as initial ACT13739 study baseline. Analysed on full analysis set: all subject who received at least 1 dose of IMP during ACT13739 study. All data collected during ACT13739 and LTS14116 studies were analysed. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 12, 26, 52 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Baseline Score:1/Week 12 Score:1 (n=9)
    4
        Baseline Score:1/Week 12 Score:2 (n=9)
    1
        Baseline Score:2/Week 12 Score:1 (n=9)
    3
        Baseline Score:2/Week 12 Score:2 (n=9)
    1
        Baseline Score:1/Week 26 Score:1 (n=9)
    4
        Baseline Score:1/Week 26 Score:2 (n=9)
    1
        Baseline Score:2/Week 26 Score:1 (n=9)
    3
        Baseline Score:2/Week 26 Score:2 (n=9)
    1
        Baseline Score:1/Week 52 Score:1 (n=6)
    3
        Baseline Score:2/Week 52 Score:1 (n=6)
    2
        Baseline Score:2/Week 52 Score:2 (n=6)
    1
        Baseline Score:1/Week 156 Score:0 (n=6)
    2
        Baseline Sore:1/Week 156 Score:1 (n=6)
    1
        Baseline Score:2/Week 156 Score:1 (n=6)
    3
    No statistical analyses for this end point

    Secondary: Summary of Shifts From Baseline in Skin GL-3 Score in Deep Vessels Endothelial Cells Over Time: Number of Subjects in Categories of Shift in GL-3 Score

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    End point title
    Summary of Shifts From Baseline in Skin GL-3 Score in Deep Vessels Endothelial Cells Over Time: Number of Subjects in Categories of Shift in GL-3 Score
    End point description
    Skin biopsies were done to score GL-3 accumulation/inclusions by light microscopy. Three independent pathologists scored GL-3 clearance by using an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe), where higher score indicated more severe condition. A single score per subject per time point was derived by taking score rated by a majority of pathologists; if a majority score could not be derived, median score was used. Data were summarised and reported in terms of number of subjects with shift from baseline GL-3 score to Week 12, 26, 52 and 156 GL-3 score. Shift to lower score from baseline indicated less severe condition at that respective time point. Baseline was defined as initial ACT13739 study baseline. Analysed on full analysis set: all subject who received at least 1 dose of IMP during ACT13739 study. All data collected during ACT13739 and LTS14116 studies were analysed. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 12, 26, 52 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Baseline Score:1/Week 12 Score:2 (n=9)
    1
        Baseline Score:2/Week 12 Score:1 (n=9)
    2
        Baseline Score:2/Week 12 Score:2 (n=9)
    6
        Baseline Score:1/Week 26 Score:1 (n=9)
    1
        Baseline Score:2/Week 26 Score:1 (n=9)
    2
        Baseline Score:2/Week 26 Score:2 (n=9)
    6
        Baseline Score:2/Week 52 Score:1 (n=6)
    3
        Baseline Score:2/Week 52 Score:1.5 (n=6)
    1
        Baseline Sore:2/Week 52 Score:2 (n=6)
    2
        Baseline Score:1/Week 156 Score:1 (n=6)
    1
        Baseline Score:2/Week 156 Score:0.5 (n=6)
    1
        Baseline Score:2/Week 156 Score:1 (n=6)
    3
        Baseline Score:2/Week 156 Score:2 (n=6)
    1
    No statistical analyses for this end point

    Secondary: Summary of Shifts From Baseline in Skin GL-3 Score in Deep Vessels Smooth Muscle Cells Over Time: Number of Subjects in Categories of Shift in GL-3 Score

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    End point title
    Summary of Shifts From Baseline in Skin GL-3 Score in Deep Vessels Smooth Muscle Cells Over Time: Number of Subjects in Categories of Shift in GL-3 Score
    End point description
    Skin biopsies were done to score GL-3 accumulation/inclusions by light microscopy. Three independent pathologists scored GL-3 clearance by using an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe), where higher score indicated more severe condition. A single score per subject per time point was derived by taking score rated by a majority of pathologists; if a majority score could not be derived, median score was used. Data were summarised and reported in terms of number of subjects with shift from baseline GL-3 score to Weeks 12, 26, 52 and 156 GL-3 score. Shift to lower score from baseline indicated less severe condition at that respective time point. Baseline was defined as initial ACT13739 study baseline. Analysed on full analysis set: all subject who received at least 1 dose of IMP during ACT13739 study. All data collected during ACT13739 and LTS14116 studies were analysed. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 12, 26, 52 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Baseline Score:1.5/Week 12 Score:2 (n=9)
    2
        Baseline Score:2/Week 12 Score:2 (n=9)
    7
        Baseline Score:1.5/Week 26 Score:1.5 (n=9)
    2
        Baseline Score:2/Week 26 Score:2 (n=9)
    7
        Baseline Score:1.5/Week 52 Score:2 (n=5)
    1
        Baseline Score:2/Week 52 Score:2 (n=5)
    4
        Baseline Score:1.5/Week 156 Score:2 (n=6)
    1
        Baseline Score:2/Week 156 Score:1 (n=6)
    1
        Baseline Score:2/Week 156 Score:1.5 (n=6)
    1
        Baseline Score:2/Week 156 Score:2 (n=6)
    3
    No statistical analyses for this end point

    Secondary: Summary of Shifts From Baseline in Skin GL-3 Score in Perineurium Cells Over Time: Number of Subjects in Categories of Shift in GL-3 Score

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    End point title
    Summary of Shifts From Baseline in Skin GL-3 Score in Perineurium Cells Over Time: Number of Subjects in Categories of Shift in GL-3 Score
    End point description
    Skin biopsies were done to score GL-3 accumulation/inclusions by light microscopy. Three independent pathologists scored GL-3 clearance by using an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe), where higher score indicated more severe condition. A single score per subject per time point was derived by taking score rated by a majority of pathologists; if a majority score could not be derived, median score was used. Data were summarised and reported in terms of number of subjects with shift from baseline GL-3 score to Week 12, 26, 52 and 156 GL-3 score. Shift to lower score from baseline indicated less severe condition at that respective time point. Baseline was defined as initial ACT13739 study baseline. Analysed on full analysis set: all subject who received at least 1 dose of IMP during ACT13739 study. All data collected during ACT13739 and LTS14116 studies were analysed. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 12, 26, 52 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Baseline Score:1/Week 12 Score:2 (n=9)
    1
        Baseline Score:2/Week 12 Score:2 (n=9)
    8
        Baseline Score:1/Week 26 Score:2 (n=9)
    1
        Baseline Score:2/Week 26 Score:2 (n=9)
    8
        Baseline Score:1/Week 52 Score:2 (n=6)
    1
        Baseline Score:2/Week 52 Score:1 (n=6)
    1
        Baseline Score:2/Week 52 Score:1.5 (n=6)
    1
        Baseline Score:2/Week 52 Score:2 (n=6)
    3
        Baseline Score:1/Week 156 Score:1 (n=6)
    1
        Baseline Score:2/Week 156 Score:1.5 (n=6)
    1
        Baseline Score:2/Week 156 Score:2 (n=6)
    4
    No statistical analyses for this end point

    Secondary: Change From Baseline in Mental Component Summary and Physical Component Summary of the Short Form-36 (SF-36) Health Survey at Weeks 26, 52, 104 and 156

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    End point title
    Change From Baseline in Mental Component Summary and Physical Component Summary of the Short Form-36 (SF-36) Health Survey at Weeks 26, 52, 104 and 156
    End point description
    SF-36, a subject-reported health survey, has 36-item questionnaire to assess 8 various health aspects (vitality, physical functioning, bodily pain, general health perceptions, physical role functioning, emotional role functioning, social role functioning, mental health). Score range of each of 8 aspects was from 0 (maximum disability) to 100 (no disability), higher scores indicating good health. SF-36 responses were used to calculate 2 summary scores: Physical component score (PCS) and mental component score (MCS). Score range for each of these 2 summary scores was from 0 (maximum disability) to 100 (no disability), where higher score indicated less disability/good health. Baseline was defined as initial ACT13739 study baseline. Analysed on full analysis set: all subjects who received at least 1 dose of IMP during ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: units on a scale
    arithmetic mean (standard deviation)
        Physical Component Summary: Week 26 (n=9)
    8.39 ± 6.88
        Physical Component Summary: Week 52 (n=7)
    7.70 ± 7.76
        Physical Component Summary: Week 104 (n=6)
    9.72 ± 9.02
        Physical Component Summary: Week 156 (n=6)
    5.30 ± 11.83
        Mental Component Summary: Week 26 (n=9)
    -3.31 ± 20.34
        Mental Component Summary: Week 52 (n=7)
    1.69 ± 8.27
        Mental Component Summary: Week 104 (n=6)
    6.48 ± 8.14
        Mental Component Summary: Week 156 (n=6)
    2.87 ± 14.17
    No statistical analyses for this end point

    Secondary: Gastrointestinal (GI) Symptoms: Abdominal Pain at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156

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    End point title
    Gastrointestinal (GI) Symptoms: Abdominal Pain at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156
    End point description
    Subjects assessed their GI symptoms (abdominal pain, abdominal distention, bowel movements) by completing a questionnaire (modified version of the inflammatory bowel severity scoring system). Subjects were asked to report the presence of abdominal pain in past 10 days (before each of the specified time points). Subjects answered the question: “Do you currently suffer from abdominal (tummy) pain? [Yes/No]”. For this analysis, baseline was defined as initial ACT13739 study. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Baseline: No (n = 11)
    5
        Baseline: Yes (n = 11)
    6
        Week 2: No (n = 11)
    6
        Week 2: Yes (n = 11)
    5
        Week 4: No (n = 11)
    7
        Week 4: Yes (n = 11)
    4
        Week 8: No (n = 11)
    8
        Week 8: Yes (n = 11)
    3
        Week 12: No (n = 10)
    8
        Week 12: Yes (n = 10)
    2
        Week 18: No (n = 9)
    7
        Week 18: Yes (n = 9)
    2
        Week 26: No (n = 9)
    6
        Week 26: Yes (n = 9)
    3
        Week 52: No (n = 7)
    5
        Week 52: Yes (n = 7)
    2
        Week 104: No (n = 7)
    5
        Week 104: Yes (n = 7)
    2
        Week 156: No (n = 7)
    5
        Week 156: Yes (n = 7)
    2
    No statistical analyses for this end point

    Secondary: Gastrointestinal Symptoms: Abdominal Pain Severity Score at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156

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    End point title
    Gastrointestinal Symptoms: Abdominal Pain Severity Score at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156
    End point description
    Subjects assessed their GI symptoms (abdominal pain, abdominal distention, bowel movements) by completing a questionnaire (modified version of the inflammatory bowel severity scoring system). Subjects were asked to mark the severity of the abdominal pain in past 10 days (before each of the specified time points) on a visual analogue scale (VAS). The scale ranged from 0% (no pain) to 100% (very severe), where higher score indicated more severity. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category. Standard deviation (SD) can only be calculated when there are more than 1 subject with data available, and "99999" is entered when SD cannot be calculated.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: score on a 0-100 percent scale
    arithmetic mean (standard deviation)
        Baseline (n = 6)
    52.50 ± 20.50
        Week 2 (n = 5)
    35.60 ± 18.47
        Week 4 (n = 4)
    29.75 ± 20.07
        Week 8 (n = 3)
    29.00 ± 21.28
        Week 12 (n = 2)
    40.00 ± 21.21
        Week 18 (n = 2)
    43.00 ± 29.70
        Week 26 (n = 3)
    31.33 ± 32.81
        Week 52 (n = 1)
    21.00 ± 99999
        Week 104 (n = 1)
    21.00 ± 99999
        Week 156 (n = 2)
    15.00 ± 7.07
    No statistical analyses for this end point

    Secondary: Gastrointestinal Symptoms: Number of Days With Abdominal Pain Score at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156

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    End point title
    Gastrointestinal Symptoms: Number of Days With Abdominal Pain Score at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156
    End point description
    Subjects assessed their GI symptoms (abdominal pain, abdominal distention, bowel movements) by completing a questionnaire (modified version of the inflammatory bowel severity scoring system). Subjects were asked to report the number of days they had abdominal pain in past 10 days (before each of the specified time points). Number of days with abdominal pain score was achieved by multiplying number of days with pain * 10. The score ranges from 10 to 100, where higher score signifies more number of days with pain. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: score on a scale
    arithmetic mean (standard deviation)
        Baseline (n = 6)
    38.33 ± 31.89
        Week 2 (n = 5)
    26.00 ± 20.74
        Week 4 (n = 4)
    25.00 ± 20.82
        Week 8 (n = 4)
    25.00 ± 23.80
        Week 12 (n = 2)
    35.00 ± 7.07
        Week 18 (n = 2)
    35.00 ± 21.21
        Week 26 (n = 3)
    30.00 ± 34.64
        Week 52 (n = 3)
    7.00 ± 12.12
        Week 104 (n = 2)
    5.00 ± 7.07
        Week 156 (n = 2)
    20.00 ± 0.00
    No statistical analyses for this end point

    Secondary: Gastrointestinal Symptoms: Number of Subjects With Abdominal Distension at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156

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    End point title
    Gastrointestinal Symptoms: Number of Subjects With Abdominal Distension at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156
    End point description
    Subjects assessed their GI symptoms (abdominal pain, abdominal distention, bowel movements) by completing a questionnaire (modified version of the inflammatory bowel severity scoring system). Subjects were asked to report the presence of abdominal distention in past 10 days (before each of the specified time points). Subjects answered the question: “Do you currently suffer from abdominal distension (bloating, swelling or tight tummy)? [Yes/No]”. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Baseline: No (n = 11)
    9
        Baseline: Yes (n = 11)
    2
        Week 2: No (n = 11)
    8
        Week 2: Yes (n = 11)
    3
        Week 4: No (n = 11)
    7
        Week 4: Yes (n = 11)
    4
        Week 8: No (n = 11)
    9
        Week 8: Yes (n = 11)
    2
        Week 12: No (n = 10)
    9
        Week 12: Yes (n = 10)
    1
        Week 18: No (n = 9)
    8
        Week 18: Yes (n = 9)
    1
        Week 26: No (n = 9)
    8
        Week 26: Yes (n = 9)
    1
        Week 52: No (n = 7)
    7
        Week 52: Yes (n = 7)
    0
        Week 104: No (n = 7)
    7
        Week 104: Yes (n = 7)
    0
        Week 156: No (n = 7)
    6
        Week 156: Yes (n = 7)
    1
    No statistical analyses for this end point

    Secondary: Gastrointestinal Symptoms: Abdominal Distension Severity Score at Baseline and Weeks 2, 4, 8, 12, 18, 26 and 156

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    End point title
    Gastrointestinal Symptoms: Abdominal Distension Severity Score at Baseline and Weeks 2, 4, 8, 12, 18, 26 and 156
    End point description
    Subjects assessed their GI symptoms (abdominal pain, abdominal distention, bowel movements) by completing a questionnaire (modified version of the inflammatory bowel severity scoring system). Subjects were asked to mark the severity of the abdominal distension in past 10 days (before each of the specified time points) on a VAS. The scale ranged from 0% (no distention) to 100% (very severe), where higher score indicated more severity. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category. The SD can only be calculated when there are more than 1 subject with data available, and "99999" is entered when SD cannot be calculated.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 2, 4, 8, 12, 18, 26 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: score on a 0-100 percent scale
    arithmetic mean (standard deviation)
        Baseline (n = 3)
    45.33 ± 24.01
        Week 2 (n = 3)
    38.67 ± 38.42
        Week 4 (n = 4)
    21.00 ± 26.15
        Week 8 (n = 2)
    35.00 ± 48.08
        Week 12 (n = 1)
    72.00 ± 99999
        Week 18 (n = 1)
    69.00 ± 99999
        Week 26 ( n = 1)
    80.00 ± 99999
        Week 156 (n = 1)
    5.00 ± 99999
    No statistical analyses for this end point

    Secondary: Gastrointestinal Symptoms: Number of Subjects in Categories of Response Regarding Eating Less Due to Abdominal Pain/Bloating at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156

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    End point title
    Gastrointestinal Symptoms: Number of Subjects in Categories of Response Regarding Eating Less Due to Abdominal Pain/Bloating at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156
    End point description
    Subjects assessed their GI symptoms (abdominal pain, abdominal distention, bowel movements) by completing a questionnaire (modified version of the inflammatory bowel severity scoring system). Subjects responded to question “How often do you eat less during meals due to abdominal pain and/or bloating?” in past 10 days (before each of the specified time points) in the categories as ‘never’, ‘occasionally’ or ‘often’. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Baseline: Never (n = 11)
    4
        Baseline: Occasionally (n = 11)
    5
        Baseline: Often (n = 11)
    2
        Week 2: Never (n = 11)
    6
        Week 2: Occasionally (n = 11)
    3
        Week 2: Often (n = 11)
    2
        Week 4: Never (n = 11)
    6
        Week 4: Occasionally (n = 11)
    3
        Week 4: Often (n = 11)
    2
        Week 8: Never (n = 11)
    7
        Week 8: Occasionally (n = 11)
    3
        Week 8: Often (n = 11)
    1
        Week 12: Never (n = 10)
    5
        Week 12: Occasionally (n= 10)
    3
        Week 12: Often (n =10)
    2
        Week 18: Never (n = 9)
    4
        Week 18: Occasionally (n = 9)
    3
        Week 18: Often (n = 9)
    2
        Week 26:Never (n = 9)
    4
        Week 26: Occasionally (n = 9)
    3
        Week 26: Often (n = 9)
    2
        Week 52: Never (n = 7)
    3
        Week 52: Occasionally (n = 7)
    3
        Week 52: Often (n = 7)
    1
        Week 104: Never (n = 7)
    4
        Week 104: Occasionally (n = 7)
    3
        Week 104: Often (n = 7)
    0
        Week 156: Never (n = 7)
    4
        Week 156: Occasionally (n = 7)
    3
        Week 156: Often (n = 7)
    0
    No statistical analyses for this end point

    Secondary: Gastrointestinal Symptoms: Satisfaction Over Bowel Habits at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156

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    End point title
    Gastrointestinal Symptoms: Satisfaction Over Bowel Habits at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156
    End point description
    Subjects assessed their GI symptoms (abdominal pain, abdominal distention, bowel movements) by completing a questionnaire (modified version of the inflammatory bowel severity scoring system). Subjects were asked to mark their satisfaction over bowel habits in past 10 days (before each of the specified time points) on a VAS. The scale ranged from 0% (very happy) to 100% (very unhappy), where higher percentage indicated less satisfaction. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: score on a 0-100 percent scale
    arithmetic mean (standard deviation)
        Baseline (n = 11)
    26.55 ± 19.09
        Week 2 (n = 11)
    30.82 ± 21.17
        Week 4 (n = 11)
    36.09 ± 28.68
        Week 8 (n = 11)
    34.27 ± 27.02
        Week 12 (n =10)
    21.50 ± 17.83
        Week 18 (n = 9)
    23.89 ± 21.29
        Week 26 (n = 9)
    35.56 ± 29.37
        Week 52 (n = 6)
    19.00 ± 17.05
        Week 104 (n = 5)
    18.00 ± 15.18
        Week 156 (n = 6)
    34.02 ± 36.67
    No statistical analyses for this end point

    Secondary: Gastrointestinal Symptoms: Frequency of Bowel Movements - Most Number of Times Bowel Movement Per Day at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156

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    End point title
    Gastrointestinal Symptoms: Frequency of Bowel Movements - Most Number of Times Bowel Movement Per Day at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156
    End point description
    Subjects assessed their GI symptoms (abdominal pain, abdominal distention, bowel movements) by completing a questionnaire (modified version of the inflammatory bowel severity scoring system). Subjects were asked to report the frequency of their bowel movement (per day or per week or per month) in past 10 days (before each of the specified time points) by answering the question “What is the most number of times you move your bowels per day/week/month?”. Subjects selected their preferred time unit (e.g., per day). Response provided by subjects was converted to number of times per day for reporting the results. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: number of bowel movements per day
    arithmetic mean (standard deviation)
        Baseline (n = 11)
    2.36 ± 1.03
        Week 2 (n = 11)
    2.00 ± 0.63
        Week 4 (n = 11)
    2.00 ± 1.00
        Week 8 (n = 11)
    1.74 ± 1.07
        Week 12 (n = 10)
    2.04 ± 1.08
        Week 18 (n = 9)
    2.17 ± 1.05
        Week 26 (n = 9)
    2.16 ± 1.07
        Week 52 (n = 7)
    2.08 ± 1.00
        Week 104 (n = 7)
    1.96 ± 1.05
        Week 156 (n = 7)
    1.65 ± 0.61
    No statistical analyses for this end point

    Secondary: Gastrointestinal Symptoms: Frequency of Bowel Movements - Least Number of Times Bowel Movement Per Day at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156

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    End point title
    Gastrointestinal Symptoms: Frequency of Bowel Movements - Least Number of Times Bowel Movement Per Day at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156
    End point description
    Subjects assessed their GI symptoms (abdominal pain, abdominal distention, bowel movements) by completing a questionnaire (modified version of the inflammatory bowel severity scoring system). Subjects were asked to report frequency of bowel movement (per day/per week or per month) in past 10 days (before each of specified time points). Subjects answered question “What is the least number of times you move your bowels per day/week/month?”. Subjects selected their preferred time unit (e.g., per day). Response provided by subjects was converted to number of times per day for reporting results. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: number of bowel movements per day
    arithmetic mean (standard deviation)
        Baseline (n = 11)
    0.78 ± 0.56
        Week 2 (n = 11)
    0.66 ± 0.43
        Week 4 (n = 11)
    0.65 ± 0.62
        Week 8 (n = 11)
    0.62 ± 0.64
        Week 12 (n = 10)
    0.67 ± 0.65
        Week 18 (n = 9)
    0.73 ± 0.65
        Week 26 (n = 9)
    0.75 ± 0.40
        Week 52 (n = 7)
    0.76 ± 0.72
        Week 104 (n = 7)
    0.61 ± 0.49
        Week 156 (n = 7)
    0.92 ± 0.62
    No statistical analyses for this end point

    Secondary: Gastrointestinal Symptoms: Influence of GI Symptoms of Fabry Disease on Life at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156

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    End point title
    Gastrointestinal Symptoms: Influence of GI Symptoms of Fabry Disease on Life at Baseline and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156
    End point description
    Subjects assessed their GI symptoms (abdominal pain, abdominal distention, bowel movements) by completing a questionnaire (modified version of the inflammatory bowel severity scoring system). Subjects were asked to mark the influence of their GI symptoms of Fabry disease on life in past 10 days (before each of the specified time points) on a VAS. The scale ranged from 0% (no at all) to 100% (completely), where higher percentage indicated more influence of the GI symptoms of the disease on life. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on Full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, ‘n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 2, 4, 8, 12, 18, 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: score on a 0-100 percent scale
    arithmetic mean (standard deviation)
        Baseline (n = 11)
    34.36 ± 26.47
        Week 2 (n = 11)
    26.73 ± 25.22
        Week 4 (n = 11)
    21.27 ± 19.88
        Week 8 (n = 11)
    22.09 ± 19.77
        Week 12 (n = 10)
    17.50 ± 19.92
        Week 18 (n = 9)
    24.89 ± 23.34
        Week 26 (n = 9)
    36.44 ± 30.18
        Week 52 (n = 6)
    20.33 ± 22.04
        Week 104 (n = 5)
    26.50 ± 23.31
        Week 156 (n = 6)
    19.82 ± 21.14
    No statistical analyses for this end point

    Secondary: Gastrointestinal Symptoms: Number of Subjects With Stool Consistency Assessment by Bristol Stool Scale Scoring at Baseline and Weeks 26, 52, 104 and 156

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    End point title
    Gastrointestinal Symptoms: Number of Subjects With Stool Consistency Assessment by Bristol Stool Scale Scoring at Baseline and Weeks 26, 52, 104 and 156
    End point description
    Subjects were asked to rate their stool consistency in past 10 days (before each specified time points) on a 7-point Bristol stool scale as types: 1=separate hard lumps, 2=sausage shaped but lumpy, 3=sausage-like with cracks on surface, 4=sausage-like but smooth and soft, 5=soft blobs with clear cut edges, 6=fluffy pieces with ragged edges, and 7=watery with no solid pieces. Types 1 and 2 indicate constipation, 3 and 4 indicate "ideal stools", and 5-7 indicate diarrhea. Type frequency was categorised as 'never', occasionally' or 'often'. Baseline was defined as initial ACT13739 study baseline. Analysed on Full analysis set: all subjects who received at least 1 dose of IMP during ACT13739. All data collected during ACT13739 and LTS14116 were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Stool Type 1: Baseline - Never (n = 11)
    11
        Stool Type 1: Baseline - Occasionally (n = 11)
    0
        Stool Type 1: Baseline - Often (n = 11)
    0
        Stool Type 1: Week 26 - Never (n = 9)
    8
        Stool Type 1: Week 26 - Occasionally (n = 9)
    1
        Stool Type 1: Week 26 - Often (n = 9)
    0
        Stool Type 1: Week 52 - Never (n = 7)
    6
        Stool Type 1: Week 52 - Occasionally (n = 7)
    0
        Stool Type 1: Week 52 - Often (n = 7)
    1
        Stool Type 1: Week 104 - Never (n = 7)
    6
        Stool Type 1: Week 104 - Occasionally (n = 7)
    0
        Stool Type 1: Week 104 - Often (n = 7)
    1
        Stool Type 1: Week 156 - Never (n = 7)
    5
        Stool Type 1: Week 156 - Occasionally (n = 7)
    1
        Stool Type 1: Week 156 - Often (n = 7)
    1
        Stool Type 2: Baseline - Never (n = 11)
    6
        Stool Type 2: Baseline - Occasionally (n = 11)
    5
        Stool Type 2: Baseline - Often (n = 11)
    0
        Stool Type 2: Week 26 - Never (n = 9)
    6
        Stool Type 2: Week 26 - Occasionally (n = 9)
    0
        Stool Type 2: Week 26 - Often (n = 9)
    3
        Stool Type 2: Week 52 - Never (n = 7)
    3
        Stool Type 2: Week 52 - Occasionally (n = 7)
    4
        Stool Type 2: Week 52 - Often (n = 7)
    0
        Stool Type 2: Week 104 - Never (n = 7)
    4
        Stool Type 2: Week 104 - Occasionally (n = 7)
    2
        Stool Type 2: Week 104 - Often (n = 7)
    1
        Stool Type 2: Week 156 - Never (n = 7)
    2
        Stool Type 2: Week 156 - Occasionally (n = 7)
    3
        Stool Type 2: Week 156 - Often (n = 7)
    2
        Stool Type 3: Baseline - Never (n = 11)
    1
        Stool Type 3: Baseline - Occasionally (n = 11)
    4
        Stool Type 3: Baseline - Often (n = 11)
    6
        Stool Type 3: Week 26 - Never (n = 9)
    1
        Stool Type 3: Week 26 - Occasionally (n = 9)
    3
        Stool Type 3: Week 26 - Often (n = 9)
    5
        Stool Type 3: Week 52 - Never (n = 7)
    0
        Stool Type 3: Week 52 - Occasionally (n = 7)
    3
        Stool Type 3: Week 52 - Often (n = 7)
    4
        Stool Type 3: Week 104 - Never (n = 7)
    0
        Stool Type 3: Week 104 - Occasionally (n = 7)
    6
        Stool Type 3: Week 104 - Often (n = 7)
    1
        Stool Type 3: Week 156 - Never (n = 7)
    0
        Stool Type 3: Week 156 - Occasionally (n = 7)
    4
        Stool Type 3: Week 156 - Often (n = 7)
    3
        Stool Type 4: Baseline - Never (n = 11)
    1
        Stool Type 4: Baseline - Occasionally (n = 11)
    8
        Stool Type 4: Baseline - Often (n = 11)
    2
        Stool Type 4: Week 26 - Never (n = 9)
    2
        Stool Type 4: Week 26 - Occasionally (n = 9)
    4
        Stool Type 4: Week 26 - Often (n = 9)
    3
        Stool Type 4: Week 52 - Never (n = 7)
    3
        Stool Type 4: Week 52 - Occasionally (n = 7)
    1
        Stool Type 4: Week 52 - Often (n = 7)
    3
        Stool Type 4: Week 104 - Never (n = 7)
    2
        Stool Type 4: Week 104 - Occasionally (n = 7)
    3
        Stool Type 4: Week 104 - Often (n = 7)
    2
        Stool Type 4: Week 156 - Never (n = 7)
    3
        Stool Type 4: Week 156 - Occasionally (n = 7)
    2
        Stool Type 4: Week 156 - Often (n = 7)
    2
        Stool type 5: Baseline - Never (n = 11)
    1
        Stool type 5: Baseline - Occasionally (n = 11)
    9
        Stool type 5: Baseline - Often (n = 11)
    1
        Stool type 5: Week 26 - Never (n = 9)
    4
        Stool type 5: Week 26 - Occasionally (n = 9)
    4
        Stool type 5: Week 26 - Often (n = 9)
    1
        Stool type 5: Week 52 - Never (n = 7)
    5
        Stool type 5: Week 52 - Occasionally (n = 7)
    2
        Stool type 5: Week 52 - Often (n = 7)
    0
        Stool type 5: Week 104 - Never (n = 7)
    4
        Stool type 5: Week 104 - Occasionally (n = 7)
    1
        Stool type 5: Week 104 - Often (n = 7)
    2
        Stool type 5: Week 156 - Never (n = 7)
    3
        Stool type 5: Week 156 - Occasionally (n = 7)
    3
        Stool type 5: Week 156 - Often (n = 7)
    1
        Stool Type 6: Baseline - Never (n = 11)
    5
        Stool Type 6: Baseline - Occasionally (n = 11)
    5
        Stool Type 6: Baseline - Often (n = 11)
    1
        Stool Type 6: Week 26 - Never (n = 9)
    4
        Stool Type 6: Week 26 - Occasionally (n = 9)
    4
        Stool Type 6: Week 26 - Often (n = 9)
    1
        Stool Type 6: Week 52 - Never (n = 7)
    4
        Stool Type 6: Week 52 - Occasionally (n = 7)
    2
        Stool Type 6: Week 52 - Often (n = 7)
    1
        Stool Type 6: Week 104 - Never (n = 7)
    3
        Stool Type 6: Week 104 - Occasionally (n = 7)
    3
        Stool Type 6: Week 104 - Often (n = 7)
    1
        Stool Type 6: Week 156 - Never (n = 7)
    4
        Stool Type 6: Week 156 - Occasionally (n = 7)
    3
        Stool Type 6: Week 156 - Often (n = 7)
    0
        Stool Type 7: Baseline - Never (n = 11)
    5
        Stool Type 7: Baseline - Occasionally (n = 11)
    5
        Stool Type 7: Baseline - Often (n = 11)
    1
        Stool Type 7: Week 26 - Never (n = 9)
    5
        Stool Type 7: Week 26 - Occasionally (n = 9)
    4
        Stool Type 7: Week 26 - Often (n = 9)
    0
        Stool Type 7: Week 52 - Never (n = 7)
    5
        Stool Type 7: Week 52 - Occasionally (n = 7)
    2
        Stool Type 7: Week 52 - Often (n = 7)
    0
        Stool Type 7: Week 104 - Never (n = 7)
    4
        Stool Type 7: Week 104 - Occasionally (n = 7)
    3
        Stool Type 7: Week 104 - Often (n = 7)
    0
        Stool Type 7: Week 156 - Never (n = 7)
    3
        Stool Type 7: Week 156 - Occasionally (n = 7)
    3
        Stool Type 7: Week 156 - Often (n = 7)
    1
    No statistical analyses for this end point

    Secondary: Change From Baseline in Beck Depression Inventory (BDI) Total Score at Weeks 26, 104 and 156

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    End point title
    Change From Baseline in Beck Depression Inventory (BDI) Total Score at Weeks 26, 104 and 156
    End point description
    The BDI-II Scale was a 21-item scoring tool which measures the existence and severity of symptoms of depression. Each of the 21 items on BDI-II tool represent a depressive symptom. Each symptoms were scored on a 4-point scale of 0 to 3 (0=symptom not present); (3=symptom very intense). Scores for each symptom were added up to obtain the total scores for all 21 items, which were interpreted as follows: Scores of 0-13: minimal depression; 14-19: mild depression; 20-28: moderate depression and 29-63: severe depression, where higher scores indicated more depression. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: score on a scale
    arithmetic mean (standard deviation)
        Week 26 (n = 9)
    -0.89 ± 8.13
        Week 104 (n = 4)
    2.00 ± 3.37
        Week 156 (n = 7)
    -3.43 ± 7.09
    No statistical analyses for this end point

    Secondary: Change From Baseline in Albumin/Creatinine Ratio (ACR) and Protein/Creatinine Ratio (PCR) at Weeks 26, 52, 104 and 156

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    End point title
    Change From Baseline in Albumin/Creatinine Ratio (ACR) and Protein/Creatinine Ratio (PCR) at Weeks 26, 52, 104 and 156
    End point description
    For each scheduled visit for this assessment, 3 timed overnight urine samples were collected between 4 to 7 days of each other. All urine samples were collected within a 16-day period. ACR and PCR were determined for each collection. The median of the values determined for the 3 collections/visit was used for analysis. Baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: mg/g
    arithmetic mean (standard deviation)
        ACR: Week 26 (n = 9)
    -26.22 ± 26.75
        ACR: Week 52 (n = 7)
    1.00 ± 57.23
        ACR: Week 104 (n = 7)
    12.21 ± 71.82
        ACR: Week 156 (n = 7)
    -1.14 ± 54.80
        PCR: Week 26 (n = 9)
    -38.33 ± 24.40
        PCR: Week 52 (n = 7)
    0.33 ± 62.11
        PCR: Week 104 (n = 7)
    -12.88 ± 76.97
        PCR: Week 156 (n = 7)
    -34.38 ± 71.40
    No statistical analyses for this end point

    Secondary: Number of Subjects in Categories of Echocardiogram (ECHO) Results at Baseline and at Weeks 26, 52, 104 and 156

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    End point title
    Number of Subjects in Categories of Echocardiogram (ECHO) Results at Baseline and at Weeks 26, 52, 104 and 156
    End point description
    The summary statistics of all continuous echocardiogram variables were calculated for each visit. The overall interpretation of the readings were summarised in 3 categories: normal, abnormal but not clinically significant (NCS), and abnormal but clinically significant (CS) categories. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Baseline: Normal (n = 8)
    6
        Baseline: Abnormal NCS (n = 8)
    2
        Baseline: Abnormal CS (n = 8)
    0
        Week 26: Normal (n = 9)
    6
        Week 26: Abnormal NCS (n = 9)
    3
        Week 26: Abnormal CS (n = 9)
    0
        Week 52: Normal (n = 7)
    5
        Week 52: Abnormal NCS (n = 7)
    2
        Week 52: Abnormal CS (n = 7)
    0
        Week 104: Normal (n = 7)
    4
        Week 104: Abnormal NCS (n = 7)
    3
        Week 104: Abnormal CS (n = 7)
    0
        Week 156: Normal (n = 7)
    5
        Week 156: Abnormal NCS (n = 7)
    2
        Week 156: Abnormal CS (n = 7)
    0
    No statistical analyses for this end point

    Secondary: Number of Subjects in Categories of Brain Magnetic Resonance Imaging (MRI) Results at Baseline and Weeks 26 and 156

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    End point title
    Number of Subjects in Categories of Brain Magnetic Resonance Imaging (MRI) Results at Baseline and Weeks 26 and 156
    End point description
    All continuous MRI variables were summarised using descriptive statistics for each visit. The overall interpretation of the readings were summarised in 2 categories as: normal and abnormal. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: subjects
    number (not applicable)
        Baseline: Normal (n = 10)
    6
        Baseline: Abnormal (n = 10)
    4
        Week 26: Normal (n = 9)
    7
        Week 26: Abnormal (n = 9)
    2
        Week 156: Normal (n = 7)
    4
        Week 156: Abnormal (n = 7)
    3
    No statistical analyses for this end point

    Secondary: Change From Baseline in Estimated Glomerular Filtration Rate (eGFR) at Weeks 26, 52, 104 and 156

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    End point title
    Change From Baseline in Estimated Glomerular Filtration Rate (eGFR) at Weeks 26, 52, 104 and 156
    End point description
    Estimated glomerular filtration rate was used to measure level of kidney function and determine the stage of kidney disease. Change from baseline in eGFR was obtained by subtracting baseline value from post-baseline value at Weeks 26, 52, 104 and 156. For this analysis, baseline was defined as initial ACT13739 study baseline. Analysis was performed on full analysis set: all subjects who received at least 1 dose of IMP during the ACT13739 study. All data collected during ACT13739 and LTS14116 studies were included in analysis. Here, 'n' signifies subjects with available data for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline of ACT13739 study and Weeks 26, 52, 104 and 156 post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    11
    Units: mL/min/1.73m^2
    arithmetic mean (standard deviation)
        Week 26 (n = 7)
    -3.43 ± 8.64
        Week 52 (n = 7)
    -5.57 ± 11.07
        Week 104 (n = 7)
    -5.71 ± 10.23
        Week 156 (n = 6)
    -4.83 ± 17.54
    No statistical analyses for this end point

    Secondary: Chitotriosidase (Chit1) Plasma Concentration Levels at Weeks 52, 104,156 and 160 (End of Treatment Follow-up)

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    End point title
    Chitotriosidase (Chit1) Plasma Concentration Levels at Weeks 52, 104,156 and 160 (End of Treatment Follow-up)
    End point description
    Plasma concentrations of Chit1 over time were determined using mass spectrometry (MS)-based assay. For the analysis, 52 ng/mL was considered as the lower limit of quantification. Although identified in protocol as a secondary endpoint, plasma Chit1 is also an exploratory measure. Only LTS14116 timepoints were analysed and are presented. Data summarised are the measured values at each time point (not change from baseline). Here, measured value '0.000' denotes no chitotriosidase detected in plasma for the 5 subjects at Week 156 reported by laboratory for all evaluable subjects. Analysis population included subjects in LTS14116 study with evaluable plasma Chit1 data. Only data collected during LTS14116 study were included in analysis. Here, ‘number of subjects analysed’ = subjects evaluable for this endpoint and ‘n’ = subjects with available data for each specified category.
    End point type
    Secondary
    End point timeframe
    Weeks 52, 104, 156 and 160 (End of Treatment Follow-up) post-ACT13739 baseline
    End point values
    GZ/SAR402671
    Number of subjects analysed
    7
    Units: ng/mL
    arithmetic mean (standard deviation)
        Week 52 (n=7)
    35.965 ± 46.520
        Week 104 (n=7)
    12.785 ± 20.993
        Week 156 (n=5)
    0.000 ± 0.000
        Week 160 ((End of Treatment Follow-up) (n=4)
    6.483 ± 6.309
    No statistical analyses for this end point

    Adverse events

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    Adverse events information
    Timeframe for reporting adverse events
    From baseline of ACT13739 study up to 37 months post-ACT13739 baseline
    Adverse event reporting additional description
    Reported AEs were TEAEs, defined as AEs that developed/worsened during TEAE period (period from 1st administration of study drug in ACT13739 through last administration of study drug in the combined ACT13739/LTS14116 treatment period plus 1 month or end of study participation for subject, whichever occurs first). Analysed on safety population.
    Assessment type
    Systematic
    Dictionary used for adverse event reporting
    Dictionary name
    MedDRA
    Dictionary version
    21.1
    Reporting groups
    Reporting group title
    GZ/SAR402671
    Reporting group description
    Subjects received GZ/SAR402671 15 mg once daily orally for 36 months during combined ACT13739/LTS14116 treatment period.

    Serious adverse events
    GZ/SAR402671
    Total subjects affected by serious adverse events
         subjects affected / exposed
    3 / 11 (27.27%)
         number of deaths (all causes)
    0
         number of deaths resulting from adverse events
    0
    Nervous system disorders
    Ischaemic Stroke
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences causally related to treatment / all
    0 / 1
         deaths causally related to treatment / all
    0 / 0
    Blood and lymphatic system disorders
    Haemolysis
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences causally related to treatment / all
    2 / 2
         deaths causally related to treatment / all
    0 / 0
    Ear and labyrinth disorders
    Deafness Unilateral
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences causally related to treatment / all
    0 / 1
         deaths causally related to treatment / all
    0 / 0
    Vertigo
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences causally related to treatment / all
    0 / 1
         deaths causally related to treatment / all
    0 / 0
    Psychiatric disorders
    Intentional Self-Injury
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences causally related to treatment / all
    1 / 1
         deaths causally related to treatment / all
    0 / 0
    Depressed Mood
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences causally related to treatment / all
    2 / 2
         deaths causally related to treatment / all
    0 / 0
    Musculoskeletal and connective tissue disorders
    Floppy Infant
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences causally related to treatment / all
    0 / 1
         deaths causally related to treatment / all
    0 / 0
    Frequency threshold for reporting non-serious adverse events: 5%
    Non-serious adverse events
    GZ/SAR402671
    Total subjects affected by non serious adverse events
         subjects affected / exposed
    9 / 11 (81.82%)
    General disorders and administration site conditions
    Influenza Like Illness
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Fatigue
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Non-Cardiac Chest Pain
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Oedema Peripheral
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Feeling Hot
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Oedema
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Pain
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Temperature Intolerance
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Pyrexia
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Respiratory, thoracic and mediastinal disorders
    Hiccups
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Dry Throat
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Nasal Discomfort
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Cough
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Oropharyngeal Pain
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Dyspnoea
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Sinus Pain
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Psychiatric disorders
    Anxiety
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    2
    Depressed Mood
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Depression
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Nervousness
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Investigations
    Electrocardiogram T Wave Abnormal
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Glomerular Filtration Rate Decreased
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Nuclear Magnetic Resonance Imaging Brain Abnormal
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Electrocardiogram Abnormal
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Vibration Test Abnormal
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Injury, poisoning and procedural complications
    Arthropod Bite
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    2
    Contusion
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Joint Injury
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Limb Injury
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Meniscus Injury
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Muscle Strain
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    4
    Tooth Fracture
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Wound
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Cardiac disorders
    Atrial Fibrillation
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Atrioventricular Block First Degree
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Cardiomyopathy
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Sinus Bradycardia
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Nervous system disorders
    Amnesia
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    2
    Burning Sensation
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    2
    Balance Disorder
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Cerebral Ischaemia
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Carpal Tunnel Syndrome
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Hemiparesis
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Dizziness
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    6
    Headache
         subjects affected / exposed
    4 / 11 (36.36%)
         occurrences all number
    5
    Hypoaesthesia
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    4
    Paraesthesia
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Migraine
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    2
    Memory Impairment
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Monoparesis
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    White Matter Lesion
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Presyncope
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Neuralgia
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Tremor
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    3
    Ear and labyrinth disorders
    Deafness Unilateral
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Ear Pain
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Tinnitus
         subjects affected / exposed
    3 / 11 (27.27%)
         occurrences all number
    3
    Middle Ear Effusion
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Vertigo
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Eye disorders
    Chalazion
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Blepharitis
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    2
    Diplopia
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Lacrimation Increased
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Eye Pain
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Lenticular Opacities
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    2
    Vision Blurred
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Retinal Vascular Disorder
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Gastrointestinal disorders
    Constipation
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    2
    Diarrhoea
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Abdominal Pain Upper
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Gastrooesophageal Reflux Disease
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Dry Mouth
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Oesophageal Discomfort
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Nausea
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    6
    Toothache
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Vomiting
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Skin and subcutaneous tissue disorders
    Acne
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Dermatitis Contact
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Angiokeratoma
         subjects affected / exposed
    3 / 11 (27.27%)
         occurrences all number
    4
    Hyperhidrosis
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Renal and urinary disorders
    Micturition Frequency Decreased
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Musculoskeletal and connective tissue disorders
    Arthralgia
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Musculoskeletal Chest Pain
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Muscle Twitching
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    3
    Back Pain
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Myalgia
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Neck Pain
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Pain In Extremity
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Rotator Cuff Syndrome
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Infections and infestations
    Conjunctivitis
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Ear Infection
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Influenza
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Herpes Simplex
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Nasopharyngitis
         subjects affected / exposed
    4 / 11 (36.36%)
         occurrences all number
    5
    Periodontitis
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Pharyngitis
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Pharyngitis Streptococcal
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1
    Rhinitis
         subjects affected / exposed
    2 / 11 (18.18%)
         occurrences all number
    2
    Upper Respiratory Tract Infection
         subjects affected / exposed
    3 / 11 (27.27%)
         occurrences all number
    5
    Upper Respiratory Tract Infection Bacterial
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    3
    Metabolism and nutrition disorders
    Decreased Appetite
         subjects affected / exposed
    1 / 11 (9.09%)
         occurrences all number
    1

    More information

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    Substantial protocol amendments (globally)

    Were there any global substantial amendments to the protocol? Yes
    Date
    Amendment
    12 May 2015
    •Expansion of contraception requirements following the end of treatment period included 15 days after the subject’s last treatment with IMP •Photographs at Month 30 ophthalmology exam were included for all subjects •Removal of Beck Depression Inventory- II (BDI-II assessment was not available and removed) •Update to the bioanalytical standard operating procedure (SOP) for the analysis of plasma GZ/SAR402671 concentrations •The Pharmacodynamics (PD) was measured in secondary endpoints included additional language to endpoint: exploratory blood and urine biomarkers including, but not limited to high sensitivity cardiac troponin T and podocyturia; addition to the study flow chart to include this information was also added •Addition to exploratory efficacy endpoint included urinary albumin and protein measurements •Changes to the Graphical Study Design Chart included “OR” for the ACT13739 dose levels •Grammatical errors were also corrected •Change in the language on pregnancy reporting as an adverse event (AE) to be consistent with SOP to keep consistency between protocol sections regarding pregnancy reporting as an AEs of special interest by changing the language as to report pregnancy of participating subject’s female partner as an AE reported on electronic case report form AE form in addition to the additional pregnancy form.
    14 Jan 2016
    •Addition of optional examination of globotriaosylceramide in skin biopsies at month 6 for all subjects to the one already planned at Month 30 or at early withdrawal which were not limited to superficial capillary endothelium •Addition of language regarding future use of samples •Addition of language regarding the “external genitalia” examination to the Physical Exam section of the amended protocol •Addition of language regarding subject withdrawal •Expansion of contraception requirement following the end of the treatment period •Change to text describing measures to evaluate the exploratory efficacy of the IMP. The study further evaluated changes in the GL-3 scores by light microscopy in skin biopsy, patient reported outcome (PRO) questionnaires, and urinary albumin and protein (ACR and PCR) •Addition to text regarding study treatments adding that the as an alternative to between clinical visit, the study drug might be supplied from the site to the subject via a sponsor-approved courier company where allowed by local regulations and approved by ethics committee, sponsor, and the subject.
    19 Sep 2016
    •BDI-II questionnaire to PRO to monitor the mood status for subjects and appropriate reference was added •Addition of chitotriosidase plasma activity and genotyping as an exploratory biomarker in the secondary endpoints and in specific parameters of PD •Expansion of contraception requirements following the end of treatment period from 6 weeks to 90 days after the subject’s last treatment with IMP •Minor changes to replace phrase tense from “currently participating” to “that participated” in the Investigator/Trial Location information •Grammatical errors were also corrected •Footnote text on the study flow chart was changed to include the following: BDI-II is part of protocol amendment #3 and were conducted starting at the first subject visit after amendment approval and thereafter in subsequent visits.
    10 Nov 2017
    •Changed the subject’s post treatment follow up phone call to a site visit in order to collect disease biomarkers in the urine and blood, and pharmacokinetic (PK) data •Addition of PKs assessment in early withdrawal visit and revision to footnote to correct a previous omission •Addition of in other endpoints PKs text for sampling time: “PK sample during the early withdrawal (if applicable)and post treatment follow up visit were collected at any time during the visit” •Correction of text within the secondary endpoint: “monosialodihexosylganglioside” to replace “GM3 ganglioside (GM3)” and correction to footnote on the study flow chart, removal of reference to GM3 ganglioside (GM3) were made throughout the protocol •Changes to the Graphical Study Design Chart included End of treatment Follow up Visit •Additions to the duration of study participations for each subject included the following: “Post-treatment follow up: 1 month (±7 days). Subjects who started commercial enzyme replacement therapy, investigational or any other Fabry disease treatment within the 1-month (± 7 days) follow up period were not contacted considered for follow up assessments” •Grammatical errors were also corrected •Addition of “Renin-Angiotensin-Aldosterone System” to abbreviation (RAAS) listed in heading text •Correction to Estimated sample blood volumes including the sample number and volume per study.

    Interruptions (globally)

    Were there any global interruptions to the trial? No

    Limitations and caveats

    Limitations of the trial such as small numbers of subjects analysed or technical problems leading to unreliable data.
    None reported
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