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    Clinical Trial Results:
    A Phase 2, Multicenter, Randomized, Double-Masked, Placebo-Controlled Study of the Safety and Efficacy of Ataluren (PTC124) for the Treatment of Nonsense Mutation Aniridia

    Summary
    EudraCT number
    		 2022-001013-39
    Trial protocol
    		 Outside EU/EEA  
    Global end of trial date
    22 Jan 2021

    Results information
    Results version number
    		 v1(current)
    This version publication date
    16 Jul 2022
    First version publication date
    16 Jul 2022
    Other versions

    Trial information

    		 Close Top of page
    Trial identification
    Sponsor protocol code
    PTC124-GD-028 ANI
    Additional study identifiers
    ISRCTN number
    		 -
    US NCT number
    		 NCT02647359
    WHO universal trial number (UTN)
    		 -
    Sponsors
    Sponsor organisation name
    PTC Therapeutics, Inc.
    Sponsor organisation address
    100 Corporate Court, South Plainfield, United States, NJ 07080
    Public contact
    Medical Information, PTC Therapeutics, Inc., +011 44 1-866-562-4620, medinfo@ptcbio.com
    Scientific contact
    Medical Information, PTC Therapeutics International Limited, +353 19068700, medinfo@ptcbio.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?
    Yes
    Results analysis stage
    Analysis stage
    Final
    Date of interim/final analysis
    22 Jan 2021
    Is this the analysis of the primary completion data?
    Yes
    Primary completion date
    22 Jan 2021
    Global end of trial reached?
    Yes
    Global end of trial date
    22 Jan 2021
    Was the trial ended prematurely?
    No
    General information about the trial
    Main objective of the trial
    The primary objective of this study was to evaluate the effect of ataluren on Maximum Reading Speed as measured using the Minnesota Low Vision Reading Test (MNREAD) Acuity Charts in participants with nonsense mutation aniridia.
    Protection of trial subjects
    The study was conducted in full accordance with the Declaration of Helsinki and the International Council on Harmonisation of Technical Requirements for Registration of Pharmaceuticals for Human Use (ICH) Good Clinical Practice (GCP) Consolidated Guideline (E6), and any applicable national and local laws and regulations.
    Background therapy
    		 -
    Evidence for comparator
    		 -
    Actual start date of recruitment
    31 Jan 2016
    Long term follow-up planned
    No
    Independent data monitoring committee (IDMC) involvement?
    No
    Population of trial subjects
    Number of subjects enrolled per country
    Country: Number of subjects enrolled
    Canada: 5
    Country: Number of subjects enrolled
    United States: 34
    Worldwide total number of subjects
    39
    EEA total number of subjects
    0
    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)
    18
    Adolescents (12-17 years)
    10
    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
    		 -

    Pre-assignment
    Screening details
    		 A total of 44 participants were screened and 39 were randomized to either ataluren or placebo arm.

    Period 1
    Period 1 title
    Stage 1: Double-Masked Period (48 Weeks)
    Is this the baseline period?
    		 Yes
    Allocation method
    Randomised - controlled
    Blinding used
    		 Double blind
    Roles blinded
    		 Subject, Investigator, Carer, Assessor

    Arms
    Are arms mutually exclusive
    Yes

    Arm title
    		 Ataluren
    Arm description
    		 Participants received ataluren orally 3 times a day (TID) at a dose of 10 milligrams (mg)/kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period) and for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.
    Arm type
    		 Experimental

    Investigational medicinal product name
    Ataluren
    Investigational medicinal product code
    Other name
    Pharmaceutical forms
    Oral suspension
    Routes of administration
    Oral use
    Dosage and administration details
    Ataluren was administered per dose and schedule specified in the arm description.

    Arm title
    		 Placebo
    Arm description
    		 Participants received placebo matched to ataluren TID orally in the morning, at midday, and in the evening for 48 weeks in Stage 1 (double-masked period) and ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.
    Arm type
    		 Placebo

    Investigational medicinal product name
    Placebo
    Investigational medicinal product code
    Other name
    Pharmaceutical forms
    Oral suspension
    Routes of administration
    Oral use
    Dosage and administration details
    Placebo matched to ataluren was administered per schedule specified in the arm description.

    Number of subjects in period 1
    		Ataluren Placebo
    Started
    26
    13
    Received at least 1 dose of study drug
    26
    13
    Completed
    22
    12
    Not completed
    4
    1
         Non-compliance with study drug
    -
    1
         Other than specified
    4
    -
    Period 2
    Period 2 title
    Stage 2: Open-Label Extension (96 Weeks)
    Is this the baseline period?
    		 No
    Allocation method
    Randomised - controlled
    Blinding used
    		 Not blinded

    Arms
    Are arms mutually exclusive
    Yes

    Arm title
    		 Ataluren
    Arm description
    		 Participants received ataluren orally 3 times a day (TID) at a dose of 10 milligrams (mg)/kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period) and for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.
    Arm type
    		 Experimental

    Investigational medicinal product name
    Ataluren
    Investigational medicinal product code
    Other name
    Pharmaceutical forms
    Oral suspension
    Routes of administration
    Oral use
    Dosage and administration details
    Ataluren was administered per dose and schedule specified in the arm description.

    Arm title
    		 Placebo
    Arm description
    		 Participants received placebo matched to ataluren TID orally in the morning, at midday, and in the evening for 48 weeks in Stage 1 (double-masked period) and ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.
    Arm type
    		 Placebo

    Investigational medicinal product name
    Placebo
    Investigational medicinal product code
    Other name
    Pharmaceutical forms
    Oral suspension
    Routes of administration
    Oral use
    Dosage and administration details
    Placebo matched to ataluren was administered per schedule specified in the arm description.

    Number of subjects in period 2 [1]
    		Ataluren Placebo
    Started
    22
    11
    Completed
    12
    7
    Not completed
    10
    4
         Adverse event, non-fatal
    2
    1
         Other than specified
    8
    3
    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: 1 participant in placebo arm completed Stage 1 but did not enter open-label part
    Period 3
    Period 3 title
    Open-Label Sub-Study (96 Weeks)
    Is this the baseline period?
    		 No
    Allocation method
    Randomised - controlled
    Blinding used
    		 Not blinded

    Arms
    Are arms mutually exclusive
    Yes

    Arm title
    		 Ataluren
    Arm description
    		 Participants received ataluren orally 3 times a day (TID) at a dose of 10 milligrams (mg)/kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period) and for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.
    Arm type
    		 Experimental

    Investigational medicinal product name
    Ataluren
    Investigational medicinal product code
    Other name
    Pharmaceutical forms
    Oral suspension
    Routes of administration
    Oral use
    Dosage and administration details
    Ataluren was administered per dose and schedule specified in the arm description.

    Arm title
    		 Placebo
    Arm description
    		 Participants received placebo matched to ataluren TID orally in the morning, at midday, and in the evening for 48 weeks in Stage 1 (double-masked period) and ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.
    Arm type
    		 Placebo

    Investigational medicinal product name
    Placebo
    Investigational medicinal product code
    Other name
    Pharmaceutical forms
    Oral suspension
    Routes of administration
    Oral use
    Dosage and administration details
    Placebo matched to ataluren was administered per schedule specified in the arm description.

    Number of subjects in period 3 [2]
    		Ataluren Placebo
    Started
    10
    7
    Completed
    2
    3
    Not completed
    8
    4
         Other than specified
    7
    4
         Lost to follow-up
    1
    -
    Notes
    [2] - 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: 1 participant in placebo arm completed Stage 1 but did not enter open-label part

    Baseline characteristics

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    Baseline characteristics reporting groups
    Reporting group title
    Ataluren
    Reporting group description
    		 Participants received ataluren orally 3 times a day (TID) at a dose of 10 milligrams (mg)/kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period) and for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.

    Reporting group title
    Placebo
    Reporting group description
    		 Participants received placebo matched to ataluren TID orally in the morning, at midday, and in the evening for 48 weeks in Stage 1 (double-masked period) and ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.

    Reporting group values
    		 Ataluren Placebo Total
    Number of subjects
    		 26 13 39
    Age categorical
    Units: Subjects
    Age Continuous
    Units: years
        arithmetic mean (standard deviation)
    		 14.1 ± 10.12 19.2 ± 19.43 -
    Sex: Female, Male
    Units: participants
        Female
    		 10 8 18
        Male
    		 16 5 21
    Race (NIH/OMB)
    Units: Subjects
        American Indian or Alaska Native
    		 1 0 1
        Asian
    		 3 2 5
        Native Hawaiian or Other Pacific Islander
    		 0 0 0
        Black or African American
    		 0 0 0
        White
    		 22 11 33
        More than one race
    		 0 0 0
        Unknown or Not Reported
    		 0 0 0
    Ethnicity (NIH/OMB)
    Units: Subjects
        Hispanic or Latino
    		 0 1 1
        Not Hispanic or Latino
    		 26 12 38
        Unknown or Not Reported
    		 0 0 0
    Subject analysis sets

    Subject analysis set title
    Stage 1: Ataluren
    Subject analysis set type
    		 Safety analysis
    Subject analysis set description
    Participants received ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period).

    Subject analysis set title
    Stage 1: Placebo
    Subject analysis set type
    		 Safety analysis
    Subject analysis set description
    Participants received placebo matched to ataluren TID orally in the morning, at midday, and in the evening for 48 weeks in Stage 1 (double-masked period).

    Subject analysis set title
    Overall Ataluren Exposure
    Subject analysis set type
    		 Safety analysis
    Subject analysis set description
    Participants received ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period) and for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.

    Subject analysis sets values
    		 Stage 1: Ataluren Stage 1: Placebo Overall Ataluren Exposure
    Number of subjects
    26
    13
    37
    Age categorical
    Units: Subjects
    Age Continuous
    Units: years
        arithmetic mean (standard deviation)
    22 ±
    10 ±
    35 ±
    Sex: Female, Male
    Units: participants
        Female
        Male
    Race (NIH/OMB)
    Units: Subjects
        American Indian or Alaska Native
        Asian
        Native Hawaiian or Other Pacific Islander
        Black or African American
        White
        More than one race
        Unknown or Not Reported
    Ethnicity (NIH/OMB)
    Units: Subjects
        Hispanic or Latino
        Not Hispanic or Latino
        Unknown or Not Reported

    End points

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    End points reporting groups
    Reporting group title
    Ataluren
    Reporting group description
    		 Participants received ataluren orally 3 times a day (TID) at a dose of 10 milligrams (mg)/kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period) and for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.

    Reporting group title
    Placebo
    Reporting group description
    		 Participants received placebo matched to ataluren TID orally in the morning, at midday, and in the evening for 48 weeks in Stage 1 (double-masked period) and ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.
    Reporting group title
    Ataluren
    Reporting group description
    		 Participants received ataluren orally 3 times a day (TID) at a dose of 10 milligrams (mg)/kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period) and for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.

    Reporting group title
    Placebo
    Reporting group description
    		 Participants received placebo matched to ataluren TID orally in the morning, at midday, and in the evening for 48 weeks in Stage 1 (double-masked period) and ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.
    Reporting group title
    Ataluren
    Reporting group description
    		 Participants received ataluren orally 3 times a day (TID) at a dose of 10 milligrams (mg)/kilogram (kg) in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period) and for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.

    Reporting group title
    Placebo
    Reporting group description
    		 Participants received placebo matched to ataluren TID orally in the morning, at midday, and in the evening for 48 weeks in Stage 1 (double-masked period) and ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.

    Subject analysis set title
    Stage 1: Ataluren
    Subject analysis set type
    		 Safety analysis
    Subject analysis set description
    Participants received ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period).

    Subject analysis set title
    Stage 1: Placebo
    Subject analysis set type
    		 Safety analysis
    Subject analysis set description
    Participants received placebo matched to ataluren TID orally in the morning, at midday, and in the evening for 48 weeks in Stage 1 (double-masked period).

    Subject analysis set title
    Overall Ataluren Exposure
    Subject analysis set type
    		 Safety analysis
    Subject analysis set description
    Participants received ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period) and for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.

    Primary: Percent Change From Baseline in Maximum Reading Speed of Oculus Unitas (OU) (Both Eyes) at Week 48, as Measured Using the Minnesota Low Vision Reading Test (MNREAD) Acuity Charts

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    End point title
    		 Percent Change From Baseline in Maximum Reading Speed of Oculus Unitas (OU) (Both Eyes) at Week 48, as Measured Using the Minnesota Low Vision Reading Test (MNREAD) Acuity Charts
    End point description
    MNREAD Acuity Chart test consists of short sentences with print size decreasing by 0.1 log unit steps from a maximum of 1.3 logarithm of the minimum angle of resolution (logMAR) (equivalent to 20/400 or 6/120 when viewed at 40 centimeters [cm]) to −0.5 logMAR (equivalent to 20/6 or 6/2). MNREAD Acuity Chart curve of reading speed vs print size has a typical shape for normally sighted persons and many low-vision individuals. This curve is characterized by 3 summary values. At large print sizes, reading speed remains fairly constant, forming a plateau that represents the maximum reading speed. As print size decreases, a critical print size (CPS) is reached at which reading speed begins to decline rapidly. Finally, the smallest print size that can be read is defined as reading acuity (RA). Intent-to-treat (ITT) population included all randomized participants who received at least 1 dose of study drug. 'Overall number of participants analyzed' = participants evaluable for this endpoint.
    End point type
    Primary
    End point timeframe
    Baseline, Week 48
    End point values
    		 Ataluren Placebo
    Number of subjects analysed
    11
    5
    Units: percent change
        least squares mean (standard error)
    9.87 ± 7.425
    -0.89 ± 11.809
    Statistical analysis title
    		 Statistical Analysis 1
    Statistical analysis description
    Analysis was performed using analysis of covariance (ANCOVA) with age and baseline Maximum Reading Speed (both eyes) as covariates, and treatment as a factor.
    Comparison groups
    Ataluren v Placebo
    Number of subjects included in analysis
    16
    Analysis specification
    Pre-specified
    Analysis type
    		 other
    P-value
    		 = 0.4868 [1]
    Method
    		 ANCOVA
    Parameter type
    		 Least Square (LS) Mean Difference
    Point estimate
    10.76
    Confidence interval
         level
    		 95%
         sides
    2-sided
         lower limit
    		 -21.914
         upper limit
    		 43.434
    Notes
    [1] - Threshold for significance at 0.05 level.

    Secondary: Change From Baseline in Reading Accessibility Index of Both Eyes at Week 48

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    End point title
    		 Change From Baseline in Reading Accessibility Index of Both Eyes at Week 48
    End point description
    Reading Accessibility Index is defined as the mean reading speed in words per minute (wpm) across the 10 largest physical print sizes on the MNREAD Acuity Chart, normalized by the value for a group of normally sighted young adults. For a viewing distance of 40 cm, this range of print sizes corresponds to 0.4 to 1.3 logMAR. Because the Reading Accessibility Index is normalized by the value for a group of normally sighted young adults (aged 18 to 39 years), a Reading Accessibility Index of 1.0 represents normal performance for this age group. Values less than 1.0 mean reduced accessibility to printed text within the range of print size encountered in daily life. Missing data was imputed using last observation carried forward (LOCF) method. ITT population included all randomized participants who received at least 1 dose of study drug. 'Overall number of participants analyzed' = participants evaluable for this endpoint.
    End point type
    Secondary
    End point timeframe
    Baseline, Week 48
    End point values
    		 Ataluren Placebo
    Number of subjects analysed
    11
    6
    Units: units on a scale
        arithmetic mean (standard deviation)
    0.10 ± 0.241
    0.02 ± 0.267
    No statistical analyses for this end point

    Secondary: Change From Baseline in Best Corrected Visual Acuity (BCVA) at Week 48

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    End point title
    		 Change From Baseline in Best Corrected Visual Acuity (BCVA) at Week 48
    End point description
    The BCVA was evaluated using the Early Treatment Diabetic Retinopathy Study (ETDRS) Method. Missing data was imputed using LOCF method. The ITT population included all randomized participants who received at least 1 dose of study drug. Here, 'Overall number of participants analyzed' = participants evaluable for this endpoint. 'n' = participants evaluable for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline, Week 48
    End point values
    		 Ataluren Placebo
    Number of subjects analysed
    24
    13
    Units: LogMAR
    arithmetic mean (standard deviation)
        Left Eye (n = 22, 13)
    -0.00 ± 0.076
    0.01 ± 0.103
        Right Eye (n = 24, 13)
    0.03 ± 0.125
    -0.04 ± 0.138
    No statistical analyses for this end point

    Secondary: Percent Change From Baseline in Maximum Reading Speed of Oculus Dexter (OD) (Right Eye) and Oculus Sinister (OS) (Left Eye) at Week 48

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    End point title
    		 Percent Change From Baseline in Maximum Reading Speed of Oculus Dexter (OD) (Right Eye) and Oculus Sinister (OS) (Left Eye) at Week 48
    End point description
    MNREAD Acuity Chart test consists of short sentences with print size decreasing by 0.1 log unit steps from a maximum of 1.3 logMAR (equivalent to 20/400 or 6/120 when viewed at 40 cm) to −0.5 logMAR (equivalent to 20/6 or 6/2). An MNREAD Acuity Chart curve of reading speed vs print size has a typical shape for normally sighted persons and many low-vision individuals. This curve is characterized by 3 summary values. At large print sizes, reading speed remains fairly constant, forming a plateau that represents the maximum reading speed. As the print size decreases, a CPS is reached at which reading speed begins to decline rapidly. Finally, the smallest print size that can be read is defined as the RA. The ITT population included all randomized participants who received at least 1 dose of study drug. 'Overall number of participants analyzed' = participants evaluable for this endpoint. 'n' = participants evaluable for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline, Week 48
    End point values
    		 Ataluren Placebo
    Number of subjects analysed
    10
    6
    Units: percent change
    arithmetic mean (standard deviation)
        Left Eye (n = 10, 4)
    8.70 ± 36.464
    -4.11 ± 38.380
        Right Eye (n = 8, 6)
    19.05 ± 39.116
    -3.83 ± 21.091
    No statistical analyses for this end point

    Secondary: Change From Baseline in Reading Accessibility Index of Right Eye and Left Eye at Week 48

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    End point title
    		 Change From Baseline in Reading Accessibility Index of Right Eye and Left Eye at Week 48
    End point description
    Reading Accessibility Index is defined as the mean reading speed in wpm across the 10 largest physical print sizes on the MNREAD Acuity Chart, normalized by the value for a group of normally sighted young adults. For a viewing distance of 40 cm, this range of print sizes corresponds to 0.4 to 1.3 logMAR. Because the Reading Accessibility Index is normalized by the value for a group of normally sighted young adults (aged 18 to 39 years), a Reading Accessibility Index of 1.0 represents normal performance for this age group. Values less than 1.0 mean reduced accessibility to printed text within the range of print size encountered in daily life. Missing data was imputed using LOCF method. The ITT population included all randomized participants who received at least 1 dose of study drug. 'Overall number of participants analyzed' = participants evaluable for this endpoint. 'n' = participants evaluable for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline, Week 48
    End point values
    		 Ataluren Placebo
    Number of subjects analysed
    11
    6
    Units: units on a scale
    arithmetic mean (standard deviation)
        Left Eye (n = 11, 4)
    -0.70 ± 2.601
    0.01 ± 0.224
        Right Eye (n = 9, 6)
    0.04 ± 0.048
    0.05 ± 0.128
    No statistical analyses for this end point

    Secondary: Change From Baseline in Critical Print Size (CPS) of Both Eyes, Right Eye, and Left Eye at Week 48

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    End point title
    		 Change From Baseline in Critical Print Size (CPS) of Both Eyes, Right Eye, and Left Eye at Week 48
    End point description
    The MNREAD Acuity Chart test consists of short sentences with print size decreasing by 0.1 log unit steps from a maximum of 1.3 logMAR (equivalent to 20/400 or 6/120 when viewed at 40 cm) to −0.5 logMAR (equivalent to 20/6 or 6/2). An MNREAD Acuity Chart curve of reading speed vs print size has a typical shape for normally sighted persons and many low-vision individuals. This curve is characterized by 3 summary values. At large print sizes, reading speed remains fairly constant, forming a plateau that represents the maximum reading speed. As the print size decreases, a CPS is reached at which reading speed begins to decline rapidly. Finally, the smallest print size that can be read is defined as the RA. Missing data was imputed using LOCF method. The ITT population included all randomized participants who received at least 1 dose of study drug. 'Overall number of participants analyzed' = participants evaluable for this endpoint. 'n' = participants evaluable for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline, Week 48
    End point values
    		 Ataluren Placebo
    Number of subjects analysed
    11
    6
    Units: LogMAR
    arithmetic mean (standard deviation)
        Both Eyes (n = 11, 6)
    -0.19 ± 0.259
    0.12 ± 0.433
        Left Eye (n = 10, 4)
    -0.05 ± 0.198
    0.07 ± 0.271
        Right Eye (n = 9, 6)
    0.03 ± 0.275
    -0.02 ± 0.452
    No statistical analyses for this end point

    Secondary: Change From Baseline in Reading Acuity (RA) of Both Eyes, Right Eye, and Left Eye at Week 48

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    End point title
    		 Change From Baseline in Reading Acuity (RA) of Both Eyes, Right Eye, and Left Eye at Week 48
    End point description
    The MNREAD Acuity Chart test consists of short sentences with print size decreasing by 0.1 log unit steps from a maximum of 1.3 logMAR (equivalent to 20/400 or 6/120 when viewed at 40 cm) to −0.5 logMAR (equivalent to 20/6 or 6/2). An MNREAD Acuity Chart curve of reading speed vs print size has a typical shape for normally sighted persons and many low-vision individuals. This curve is characterized by 3 summary values. At large print sizes, reading speed remains fairly constant, forming a plateau that represents the maximum reading speed. As the print size decreases, a CPS is reached at which reading speed begins to decline rapidly. Finally, the smallest print size that can be read is defined as the RA. Missing data was imputed using LOCF method. The ITT population included all randomized participants who received at least 1 dose of study drug. 'Overall number of participants analyzed' = participants evaluable for this endpoint. 'n' = participants evaluable for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline, Week 48
    End point values
    		 Ataluren Placebo
    Number of subjects analysed
    11
    6
    Units: LogMAR
    arithmetic mean (standard deviation)
        Both Eyes (n = 11, 6)
    -0.06 ± 0.239
    -0.16 ± 0.339
        Left Eye (n = 11, 4)
    -0.15 ± 2.723
    -0.16 ± 0.467
        Right Eye (n = 9, 6)
    -0.05 ± 0.142
    -0.14 ± 0.236
    No statistical analyses for this end point

    Secondary: Number of participants With Change From Baseline in Severity of Corneal Keratopathy at Week 48

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    End point title
    		 Number of participants With Change From Baseline in Severity of Corneal Keratopathy at Week 48
    End point description
    The severity of corneal keratopathy was reported as worsened, not change, or improve. Missing data were imputed using LOCF. The ITT population included all randomized participants who received at least 1 dose of study drug. Here, 'Overall number of participants analyzed' = participants evaluable for this endpoint. 'n' = participants evaluable for specified category.
    End point type
    Secondary
    End point timeframe
    Baseline to Week 48
    End point values
    		 Ataluren Placebo
    Number of subjects analysed
    21
    12
    Units: participants
        Left Eye: Worsened (n = 19, 7)
    4
    2
        Left Eye: Not change (n = 19, 7)
    7
    2
        Left Eye: Improved (n = 19, 7)
    8
    3
        Right Eye: Worsened (n = 21, 8)
    4
    2
        Right Eye: Not change (n = 21, 8)
    7
    2
        Right Eye: Improved (n = 21, 8)
    10
    4
    No statistical analyses for this end point

    Secondary: Change From Baseline in Iris Area at Week 48

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    End point title
    		 Change From Baseline in Iris Area at Week 48
    End point description
    Missing data were imputed using LOCF. The ITT population included all randomized participants who received at least 1 dose of study drug. Here, 'Overall number of participants analyzed' = participants evaluable for this endpoint. 'n' = participants evaluable for specified category. '99999' = Dispersion value cannot be calculated for single participant.
    End point type
    Secondary
    End point timeframe
    Baseline, Week 48
    End point values
    		 Ataluren Placebo
    Number of subjects analysed
    9
    2
    Units: millimeter square (mm^2)
    arithmetic mean (standard deviation)
        Left Eye (n = 6, 2)
    -0.15 ± 0.333
    0.14 ± 0.129
        Right Eye (n = 9, 1)
    -0.06 ± 0.257
    -0.14 ± 99999
    No statistical analyses for this end point

    Secondary: Change From Baseline in BCVA at Week 240

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    End point title
    		 Change From Baseline in BCVA at Week 240
    End point description
    The BCVA was evaluated using the ETDRS Method. Missing data were imputed using LOCF method. The ITT population included all randomized participants who received at least 1 dose of study drug. Here, 'Overall number of participants analyzed' = participants evaluable for this endpoint.
    End point type
    Secondary
    End point timeframe
    Baseline, Week 240
    End point values
    		 Ataluren Placebo
    Number of subjects analysed
    2
    0 [2]
    Units: logMAR
    arithmetic mean (standard deviation)
        Left Eye
    0.02 ± 0.141
    ±
        Right Eye
    0.11 ± 0.240
    ±
    Notes
    [2] - None of the participants were evaluable in this arm.
    No statistical analyses for this end point

    Secondary: Number of Participants With Treatment-Emergent Adverse Events (TEAEs)

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    End point title
    		 Number of Participants With Treatment-Emergent Adverse Events (TEAEs)
    End point description
    An adverse event (AE) was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. AEs included both SAEs and non-serious AEs. A summary of other non-serious AEs and all SAEs, regardless of causality is located in the 'Reported AE section'. AEs were summarized separately for Stage 1 and for the overall ataluren experience, which included all participants who received ataluren throughput the study (Stage 1, open-label extension period [Stage 2], and sub-study). The safety population included all randomized participants who received at least 1 dose of study drug.
    End point type
    Secondary
    End point timeframe
    Baseline up to Week 244
    End point values
    		 Stage 1: Ataluren Stage 1: Placebo Overall Ataluren Exposure
    Number of subjects analysed
    26
    13
    37
    Units: participants
    22
    10
    35
    No statistical analyses for this end point

    Adverse events

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    Adverse events information
    Timeframe for reporting adverse events
    Baseline up to Week 244
    Adverse event reporting additional description
    The safety population included all randomized participants who received at least 1 dose of study drug. AEs were summarized separately for Stage 1 and for the overall ataluren experience, which included all participants who received ataluren throughput the study (Stage 1, open-label extension period [Stage 2], and sub-study).
    Assessment type
    		 Systematic
    Dictionary used for adverse event reporting
    Dictionary name
    		 MedDRA
    Dictionary version
    17.0
    Reporting groups
    Reporting group title
    Stage 1: Ataluren
    Reporting group description
    		 Participants received ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period).

    Reporting group title
    Stage 1: Placebo
    Reporting group description
    		 Participants received placebo matched to ataluren TID orally in the morning, at midday, and in the evening for 48 weeks in Stage 1 (double-masked period).

    Reporting group title
    Overall Ataluren Exposure
    Reporting group description
    		 Participants received ataluren orally TID at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for 48 weeks in Stage 1 (double-masked period) and for additional 96 weeks in Stage 2 (open-label extension period). Participants, who completed Stage 2 and agreed to continue in open-label sub-study, continued to receive ataluren treatment at same dose as mentioned above, for 96 weeks.

    Serious adverse events
    		 Stage 1: Ataluren Stage 1: Placebo Overall Ataluren Exposure
    Total subjects affected by serious adverse events
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         number of deaths (all causes)
    0
    0
    0
         number of deaths resulting from adverse events
    Psychiatric disorders
    Mental disorder
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences causally related to treatment / all
    0 / 1
    0 / 0
    0 / 1
         deaths causally related to treatment / all
    0 / 0
    0 / 0
    0 / 0
    Frequency threshold for reporting non-serious adverse events: 0%
    Non-serious adverse events
    		 Stage 1: Ataluren Stage 1: Placebo Overall Ataluren Exposure
    Total subjects affected by non serious adverse events
         subjects affected / exposed
    22 / 26 (84.62%)
    10 / 13 (76.92%)
    35 / 37 (94.59%)
    General disorders and administration site conditions
    Malaise
         subjects affected / exposed
    5 / 26 (19.23%)
    2 / 13 (15.38%)
    9 / 37 (24.32%)
         occurrences all number
    9
    3
    17
    Fatigue
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Local swelling
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Medical device site reaction
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Pyrexia
         subjects affected / exposed
    1 / 26 (3.85%)
    1 / 13 (7.69%)
    6 / 37 (16.22%)
         occurrences all number
    2
    3
    13
    Asthenia
         subjects affected / exposed
    0 / 26 (0.00%)
    1 / 13 (7.69%)
    0 / 37 (0.00%)
         occurrences all number
    0
    1
    0
    Sensation of pressure
         subjects affected / exposed
    0 / 26 (0.00%)
    1 / 13 (7.69%)
    0 / 37 (0.00%)
         occurrences all number
    0
    1
    0
    Pain
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    2
    Immune system disorders
    Seasonal allergy
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Reproductive system and breast disorders
    Menorrhagia
         subjects affected / exposed
    0 / 26 (0.00%)
    1 / 13 (7.69%)
    0 / 37 (0.00%)
         occurrences all number
    0
    1
    0
    Balanoposthitis
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Metrorrhagia
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Respiratory, thoracic and mediastinal disorders
    Nasal congestion
         subjects affected / exposed
    0 / 26 (0.00%)
    1 / 13 (7.69%)
    1 / 37 (2.70%)
         occurrences all number
    0
    1
    2
    Epistaxis
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    0
    0
    3
    Oropharyngeal pain
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    0
    0
    2
    Rhinorrhoea
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Sneezing
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Throat irritation
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Wheezing
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Psychiatric disorders
    Insomnia
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Mood altered
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Anxiety
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Attention deficit/Hyperactivity disorder
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    0
    0
    2
    Depression
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Obsessive-compulsive disorder
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    2
    Investigations
    Alanine aminotransferase increased
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    1
    0
    2
    Urine leukocyte esterase positive
         subjects affected / exposed
    2 / 26 (7.69%)
    0 / 13 (0.00%)
    0 / 37 (0.00%)
         occurrences all number
    2
    0
    3
    Blood uric acid increased
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    1
    0
    2
    Protein urine present
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Nitrite urine present
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Urine ketone body present
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Blood urea increased
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    0
    0
    2
    Intraocular pressure increased
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    0
    0
    4
    Bacterial test positive
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Blood bilirubin increased
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Hepatic enzyme increased
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Aspartate aminotransferase increased
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Injury, poisoning and procedural complications
    Fall
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Concussion
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Corneal Abrasion
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Joint dislocation
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Ligament sprain
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Radius fracture
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Sunburn
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Congenital, familial and genetic disorders
    Phimosis
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Nervous system disorders
    Somnolence
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Headache
         subjects affected / exposed
    0 / 26 (0.00%)
    1 / 13 (7.69%)
    3 / 37 (8.11%)
         occurrences all number
    0
    1
    8
    Migraine
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    3 / 37 (8.11%)
         occurrences all number
    0
    0
    4
    Ear and labyrinth disorders
    Motion sickness
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Eye disorders
    Dry eye
         subjects affected / exposed
    4 / 26 (15.38%)
    3 / 13 (23.08%)
    9 / 37 (24.32%)
         occurrences all number
    8
    5
    24
    Lacrimation increased
         subjects affected / exposed
    3 / 26 (11.54%)
    1 / 13 (7.69%)
    10 / 37 (27.03%)
         occurrences all number
    6
    2
    20
    Eye pruritus
         subjects affected / exposed
    2 / 26 (7.69%)
    2 / 13 (15.38%)
    13 / 37 (35.14%)
         occurrences all number
    4
    4
    38
    Corneal opacity
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    2
    0
    2
    Eye swelling
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    2
    0
    2
    Eyelid ptosis
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Lenticular opacities
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    2
    0
    2
    Ocular hyperaemia
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    2
    0
    4
    Eye discharge
         subjects affected / exposed
    0 / 26 (0.00%)
    2 / 13 (15.38%)
    3 / 37 (8.11%)
         occurrences all number
    0
    2
    6
    Keratopathy
         subjects affected / exposed
    0 / 26 (0.00%)
    1 / 13 (7.69%)
    1 / 37 (2.70%)
         occurrences all number
    0
    1
    2
    Vision blurred
         subjects affected / exposed
    0 / 26 (0.00%)
    1 / 13 (7.69%)
    1 / 37 (2.70%)
         occurrences all number
    0
    2
    5
    Vitreous detachment
         subjects affected / exposed
    0 / 26 (0.00%)
    1 / 13 (7.69%)
    0 / 37 (0.00%)
         occurrences all number
    0
    1
    0
    Photophobia
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    17 / 37 (45.95%)
         occurrences all number
    0
    0
    38
    Eye pain
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    4 / 37 (10.81%)
         occurrences all number
    0
    0
    8
    Lens discolouration
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    0
    0
    4
    Blepharospasm
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Cataract
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Eye inflammation
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    2
    Eye irritation
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    12
    Punctate keratitis
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Photokeratitis
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    2
    Visual acuity reduced
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Gastrointestinal disorders
    Abdominal pain upper
         subjects affected / exposed
    5 / 26 (19.23%)
    3 / 13 (23.08%)
    9 / 37 (24.32%)
         occurrences all number
    6
    5
    25
    Vomiting
         subjects affected / exposed
    5 / 26 (19.23%)
    3 / 13 (23.08%)
    8 / 37 (21.62%)
         occurrences all number
    10
    5
    18
    Nausea
         subjects affected / exposed
    4 / 26 (15.38%)
    2 / 13 (15.38%)
    4 / 37 (10.81%)
         occurrences all number
    4
    2
    4
    Flatulence
         subjects affected / exposed
    3 / 26 (11.54%)
    1 / 13 (7.69%)
    3 / 37 (8.11%)
         occurrences all number
    3
    1
    3
    Abdominal distension
         subjects affected / exposed
    2 / 26 (7.69%)
    1 / 13 (7.69%)
    2 / 37 (5.41%)
         occurrences all number
    3
    1
    3
    Frequent bowel movements
         subjects affected / exposed
    2 / 26 (7.69%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    2
    0
    2
    Abdominal pain
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    2
    0
    3
    Dental caries
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Diarrhoea
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    1
    0
    3
    Faeces soft
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Tooth impacted
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Abdominal discomfort
         subjects affected / exposed
    0 / 26 (0.00%)
    2 / 13 (15.38%)
    0 / 37 (0.00%)
         occurrences all number
    0
    2
    0
    Constipation
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Gastrointestinal Pain
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Skin and subcutaneous tissue disorders
    Rash
         subjects affected / exposed
    2 / 26 (7.69%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    2
    0
    2
    Erythema
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Pruritus
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Dermatitis contact
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Skin discolouration
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Renal and urinary disorders
    Haematuria
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Dysuria
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Endocrine disorders
    Hypothyroidism
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Musculoskeletal and connective tissue disorders
    Epiphysiolysis
         subjects affected / exposed
    0 / 26 (0.00%)
    1 / 13 (7.69%)
    0 / 37 (0.00%)
         occurrences all number
    0
    1
    0
    Infections and infestations
    Gastroenteritis viral
         subjects affected / exposed
    2 / 26 (7.69%)
    0 / 13 (0.00%)
    7 / 37 (18.92%)
         occurrences all number
    2
    0
    8
    Conjunctivitis
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    5 / 37 (13.51%)
         occurrences all number
    1
    0
    7
    Influenza
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    6 / 37 (16.22%)
         occurrences all number
    1
    0
    7
    Nasopharyngitis
         subjects affected / exposed
    1 / 26 (3.85%)
    1 / 13 (7.69%)
    1 / 37 (2.70%)
         occurrences all number
    1
    1
    1
    Pharyngitis streptococcal
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    2 / 37 (5.41%)
         occurrences all number
    3
    0
    4
    Upper respiratory tract infection
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Roseola
         subjects affected / exposed
    1 / 26 (3.85%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    1
    0
    1
    Ear infection
         subjects affected / exposed
    0 / 26 (0.00%)
    1 / 13 (7.69%)
    0 / 37 (0.00%)
         occurrences all number
    0
    1
    0
    Atypical Pneumonia
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Cellulitis of male external genital organ
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Eye infection
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    2
    Lyme disease
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Respiratory tract infection
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1
    Metabolism and nutrition disorders
    Decreased appetite
         subjects affected / exposed
    0 / 26 (0.00%)
    0 / 13 (0.00%)
    1 / 37 (2.70%)
         occurrences all number
    0
    0
    1

    More information

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    Substantial protocol amendments (globally)
    Were there any global substantial amendments to the protocol? Yes
    Date
    Amendment
    11 Feb 2016
    Increased the frequency of renal monitoring in the study as requested by the Food and Drug Administration (FDA).
    13 Oct 2016
    Removed the interim analysis based on the comments from the FDA to SAP V1.0.
    20 Nov 2017
    Increased the study period by 48 weeks, for a total study duration of 144 weeks.
    17 Apr 2018
    Changed the timing of the primary analysis from Week 48 to Week 96 and provide clarification on the length of the screening period.
    08 Nov 2018
    Added a sub-study to include eligible participants who have completed the 144-week parent study to receive an additional 96 weeks of open-label ataluren in order to investigate the safety and efficacy of long-term use.
    17 Dec 2019
    Changed the primary endpoint from safety to efficacy in order to investigate the clinical utility of intervention with ataluren in this 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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