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    EudraCT Number:2012-001966-14
    Sponsor's Protocol Code Number:AGAL19110
    National Competent Authority:Spain - AEMPS
    Clinical Trial Type:EEA CTA
    Trial Status:Completed
    Date on which this record was first entered in the EudraCT database:2012-09-03
    Trial results View results
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    A. Protocol Information
    A.1Member State ConcernedSpain - AEMPS
    A.2EudraCT number2012-001966-14
    A.3Full title of the trial
    A Cross-sectional Study of Renal Function in Treatment-naïve, Young Male Patients with Fabry Disease
    Estudio transversal sobre la función renal en varones jóvenes con enfermedad de Fabry sin tratamiento previo
    A.3.1Title of the trial for lay people, in easily understood, i.e. non-technical, language
    A study to assess the renal function in young male patients with Fabry disease who have never received any specific treatment for this disease.
    Estudio para evaluar la función renal en varones jóvenes con enfermedad de Fabry los cuales no han recibido nunca ningún tratamiento específico
    A.3.2Name or abbreviated title of the trial where available
    A.4.1Sponsor's protocol code numberAGAL19110
    A.7Trial is part of a Paediatric Investigation Plan No
    A.8EMA Decision number of Paediatric Investigation Plan
    B. Sponsor Information
    B.Sponsor: 1
    B.1.1Name of SponsorGenzyme, a Sanofi Company
    B.1.3.4CountryUnited States
    B.3.1 and B.3.2Status of the sponsorCommercial
    B.4 Source(s) of Monetary or Material Support for the clinical trial:
    B.4.1Name of organisation providing supportGenzyme, a Sanofi Company
    B.4.2CountryUnited States
    B.5 Contact point designated by the sponsor for further information on the trial
    B.5.1Name of organisationGenzyme Europe BV
    B.5.2Functional name of contact pointMedical Information Genzyme Europe
    B.5.3 Address:
    B.5.3.1Street AddressGooimeer 10
    B.5.3.2Town/ cityNaarden
    B.5.3.3Post codeNA
    D. IMP Identification
    D.IMP: 1
    D.1.2 and D.1.3IMP RoleTest
    D.2 Status of the IMP to be used in the clinical trial
    D.2.1IMP to be used in the trial has a marketing authorisation Yes
    D. name Iohexol
    D. of the Marketing Authorisation holderGE Healthcare Bio-Sciences, S.A.U.
    D.2.1.2Country which granted the Marketing AuthorisationSpain
    D.2.5The IMP has been designated in this indication as an orphan drug in the Community No
    D.2.5.1Orphan drug designation number
    D.3 Description of the IMP
    D.3.1Product nameOMNIPAQUE
    D.3.2Product code Not applicable
    D.3.4Pharmaceutical form Solution for injection
    D.3.4.1Specific paediatric formulation No
    D.3.7Routes of administration for this IMPIntravenous use
    D.3.8 to D.3.10 IMP Identification Details (Active Substances)
    D.3.8INN - Proposed INNiohexol
    D.3.9.2Current sponsor codeNot applicable
    D.3.9.3Other descriptive nameiohexol
    D.3.9.4EV Substance CodeNot applicable
    D.3.10 Strength
    D.3.10.1Concentration unit mg/ml milligram(s)/millilitre
    D.3.10.2Concentration typeequal
    D.3.10.3Concentration number300
    D.3.11 The IMP contains an:
    D.3.11.1Active substance of chemical origin Yes
    D.3.11.2Active substance of biological/ biotechnological origin (other than Advanced Therapy IMP (ATIMP) No
    The IMP is a:
    D.3.11.3Advanced Therapy IMP (ATIMP) No
    D. cell therapy medicinal product No
    D. therapy medical product No
    D. Engineered Product No
    D. ATIMP (i.e. one involving a medical device) No
    D. on Advanced therapies (CAT) has issued a classification for this product No
    D.3.11.4Combination product that includes a device, but does not involve an Advanced Therapy No
    D.3.11.5Radiopharmaceutical medicinal product No
    D.3.11.6Immunological medicinal product (such as vaccine, allergen, immune serum) No
    D.3.11.7Plasma derived medicinal product No
    D.3.11.8Extractive medicinal product No
    D.3.11.9Recombinant medicinal product No
    D.3.11.10Medicinal product containing genetically modified organisms No
    D.3.11.11Herbal medicinal product No
    D.3.11.12Homeopathic medicinal product No
    D.3.11.13Another type of medicinal product No
    D.8 Information on Placebo
    E. General Information on the Trial
    E.1 Medical condition or disease under investigation
    E.1.1Medical condition(s) being investigated
    Fabry disease
    Enfermedad de Fabry
    E.1.1.1Medical condition in easily understood language
    Inherited disorder where a cellular enzyme (?-galatosidase) is deficient. As a result a fatty substance called globotriaosylceramide accumulates in cells and initiates the disease in several organs.
    Trastorno hereditario en donde una enzima celular es deficiente. Como resultado, in lípido llamado globotriaosilceramido se acumula en las células y se inicia la enfermedad en varios órganos.
    E.1.1.2Therapeutic area Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    MedDRA Classification
    E.1.2 Medical condition or disease under investigation
    E.1.2Version 15.0
    E.1.2Level PT
    E.1.2Classification code 10016016
    E.1.2Term Fabry's disease
    E.1.2System Organ Class 10010331 - Congenital, familial and genetic disorders
    E.1.3Condition being studied is a rare disease Yes
    E.2 Objective of the trial
    E.2.1Main objective of the trial
    To document renal function and other Fabry disease manifestations across age in treatment-naïve, young male patients with Fabry disease.
    Documentar la función renal y otras manifestaciones de la enfermedad de Fabry a diferentes edades, en varones jóvenes con enfermedad de Fabry sin tratamiento previo
    E.2.2Secondary objectives of the trial
    To provide a reference group for comparison with interventional clinical trials of Fabry disease.
    Disponer de un grupo de referencia para la comparación con los ensayos clínicos intervencionistas sobre la enfermedad de Fabry.
    E.2.3Trial contains a sub-study No
    E.3Principal inclusion criteria
    A patient must meet all of the following criteria to be eligible for this study.
    1. The patient and/or their parent/legal guardian is willing and able to provide signed informed consent. If the patient is below the age of consent per local guidelines, he is willing to provide assent, if
    deemed able to do so.
    2. The patient must have a confirmed diagnosis of Fabry disease as documented by leukocyte ?-galactosidase A (?GAL) of <4 mol/hr/mg leukocyte (preferred assay; results from a central
    laboratory). If the leukocyte ?GAL activity assay is difficult to obtain, the patient may be enrolled based on documented plasma ?GAL <1.5 nmol/hr/mL (results from a central laboratory), with the
    agreement of the Genzyme Medical Monitor.
    3. The patient must be male and ?5 and ?25 years of age at screening.
    1. El paciente y/o su padre, madre o tutor legal deberán estar dispuestos a ofrecer su consentimiento informado firmado. Si el paciente estuviese por debajo de la edad permitida para dar su consentimiento, según las directrices locales, deberá estar dispuesto a ofrecer su consentimiento, si se considera que es capaz de hacerlo.
    2. El paciente deberá disponer de un diagnóstico confirmado de enfermedad de Fabry, documentada por un nivel leucocitario de ?-galactosidasa A (?GAL) ?4 nmol/h/mg en leucocitos (análisis preferido; resultados de un laboratorio central). Si el análisis de actividad ?GAL leucocitaria fuese difícil de obtener, el paciente podría ser incluido en el estudio en función de un nivel plasmático documentado de ?GAL ?1,5 nmol/h/mL (resultados de un laboratorio central), con la aprobación del supervisor clínico de Genzyme.
    3. Los pacientes deberán ser varones de ?5 y ?25 años de edad en el momento de la selección.
    E.4Principal exclusion criteria
    A patient who meets any of the following criteria will be excluded from this study.
    1. Patient has received prior treatment with enzyme replacement therapy (ERT) or oral pharmacological chaperone therapy for Fabry disease.
    2. Patient has received an investigational drug within 30 days of the screening visit.
    3. Patient is receiving any of the following medications and is clinically unable or unwilling to temporarily discontinue treatment with these medications for the indicated washout period prior to
    the renal function assessments until completion of these assessments:
    ? Angiotensin converting enzyme inhibitors or angiotensin receptor blockers (6 week washout);
    ? Non-steroidal anti-inflammatory drugs (3 day washout).
    NOTE: Patients who are on chronic dialysis or have had a kidney transplant will not be required to discontinue the above medications because renal function assessments will not be performed in these
    4. Patient has any contraindication mentioned in the labeling of iohexol. NOTE: patients with an eGFR <30 mL/min/1.73m2 and patients who are on chronic dialysis or have had a kidney transplant may be enrolled irrespective of any contraindication to iohexol because iGFR will not be measured in these patients.
    5. Patient has any medical condition or extenuating circumstance which, in the opinion of the Investigator, could interfere with the patient?s ability to complete all study procedures, or with the
    interpretation of study results (e.g., diabetes mellitus).
    6. The patient and/or their parent or legal guardian, in the opinion of the Investigator, is unable to adhere to the requirements of the study.
    1. El paciente ha recibido tratamiento previo con terapia de sustitución enzimática (TSE) u otra terapia farmacológica adicional para la enfermedad de Fabry.
    2. El paciente ha recibido un fármaco en investigación en los 30 días previos a la visita de selección.
    3. El paciente está recibiendo alguno de los siguientes medicamentos y es clínicamente incapaz o no está dispuesto a interrumpir de forma temporal el tratamiento con dichos medicamentos durante el periodo de reposo farmacológico indicado, previo a las evaluaciones de la función renal y hasta la finalización de dichas evaluaciones:
    ? Inhibidores de la enzima convertidora de angiotensina o bloqueantes del receptor de angiotensina (reposo farmacológico durante 6 semanas);
    ? Antiinflamatorios no esteroideos (reposo farmacológico durante 3 días).
    NOTA: Los pacientes en diálisis crónica o que hayan recibido un transplante renal no tendrían que interrumpir los medicamentos antes mencionados, ya que en estos pacientes no se realizarán evaluaciones de la función renal.
    4. El paciente presenta alguna contraindicación mencionada en el prospecto de iohexol. NOTA: los pacientes con un FGe <30 mL/min/1,73m2 y los pacientes en diálisis crónica o que hayan recibido un transplante renal podrán ser incluidos en el estudio independientemente de que presenten cualquier contraindicación a iohexol, ya que en estos pacientes no se medirá el FGi.
    5. El paciente presenta alguna patología médica o circunstancia atenuante que, en opinión del investigador, pudiese interferir con su capacidad para completar todos los procedimientos del estudio o con la interpretación de los resultados del estudio (p. ej., diabetes mellitus).
    6. En opinión del investigador, el paciente y/o su padre, madre o tutor legal no son capaces de cumplir los requisitos del estudio.
    E.5 End points
    E.5.1Primary end point(s)
    Renal Function (all assessments by central laboratories):
    ? GFR estimated from serum creatinine using age-appropriate formulas (eGFR).
    ? GFR measurement by plasma iohexol clearance (iGFR). NOTE: iGFR will not be measured for patients with a screening eGFR <30 mL/min/1.73m2.
    ? Albumin/creatinine ratio (ACR), total protein/creatinine ratio (PCR), retinol binding protein (RBP), and ?2-microglobulin, as measured in three first morning void urine samples, each obtained at least 1 week apart and not more than 2 weeks apart.

    Cardiovascular Function (all tests read by central laboratories)
    ? Standard 12-lead electrocardiogram (ECG) parameters and abnormalities.
    ? Standard cardiac dimensions, calculated ejection fraction (EF), and valve abnormalities by 2-dimensional Doppler echocardiograph and mitral annulus velocities by optional tissue Doppler imaging (based on the site?s technical capabilities).

    Gastrointestinal (GI) Symptoms
    ? Information on GI symptoms, obtained by asking patients a series of specific questions.

    Quality of Life (QoL):
    ? Pediatric QoL (PedsQL) Pediatric Pain Questionnaire (PPQ) in patients 5 to 17 years of age at screening.
    ? Brief Pain Inventory (Short Form) (BPI[SF]) in patients ?18 years of age at screening.

    Exploratory Biomarkers (all assessments by central laboratories):
    ? Blood and urine samples will also be collected for exploratory analyses of potential biomarkers of Fabry disease, which will be identified on the basis of emerging scientific data and will be analyzed individually or in multi-analyte biomarker panels. Blood and urine samples collected for exploratory biomarker analyses in this study will not be used for genetic testing.

    Other Disease Characteristics (all assessments by central laboratories)
    ? Plasma and urine globotriaosylceramide (total GL-3 and lyso-GL-3).
    ? Genotyping for ?GAL gene mutations.
    Función renal (todas las evaluaciones hechas en laboratorio central):
    ? FG estimado a partir de la creatinina sérica, utilizando formulas apropiadas para la edad (FGe).
    ? Medición del FG mediante aclaramiento plasmático de iohexol (FGi). NOTA: el FGi no se medirá
    en pacientes con un FGe en el momento de la selección <30 mL/min/1,73 m2.
    ? Cociente albúmina/creatinina (CAC), cociente proteína total/creatinina (CPC), proteína de unión a
    retinol (RBP) y ?2-microglobulina, según la medición en las tres primeras micciones de la mañana,
    obtenidas con una separación mínima de 1 semana y máxima de 2 semanas.
    Función cardiovascular (todas las pruebas interpretadas en laboratorio central)
    ? Parámetros y alteraciones del electrocardiograma (ECG) estándar de 12 derivaciones.
    ? Dimensiones cardiacas estándar, fracción de eyección (FE) calculada y alteraciones valvulares
    mediante ecocardiografía Doppler bidimensional, y velocidad del anillo mitral mediante imagen de
    Doppler tisular opcional (en función de las capacidades técnicas del centro).
    Síntomas gastrointestinales (GI)
    ? Información sobre los síntomas GI, obtenida haciendo a los pacientes una serie de preguntas
    Calidad de vida (CdV):
    ? Cuestionario pediátrico de calidad de vida (PedsQL) y del dolor (PPQ) en pacientes de 5 a 17 años
    de edad en el momento de la selección.
    ? Cuestionario breve de dolor (forma abreviada) (BPI-SF) en pacientes ?18 años de edad en el
    momento de la selección.
    Biomarcadores exploratorios (todas las evaluaciones hechas en laboratorio central):
    ? También se recogerán muestras de sangre y orina para los análisis exploratorios de posibles
    biomarcadores de la enfermedad de Fabry, que se identificarán sobre la base de los datos científicos
    emergentes y se analizarán de forma individual o en multianálisis de perfiles de biomarcadores. Las
    muestras de sangre y orina recogidas para los análisis de biomarcadores exploratorios de este
    estudio no se utilizarán para realizar pruebas genéticas.
    Otras características de la enfermedad (todas las evaluaciones hechas en laboratorio central)
    ? Globotriosilceramida (GL-3 total y liso-GL-3) en plasma y orina.
    ? Genotipificación de las mutaciones del gen ?GAL.
    E.5.1.1Timepoint(s) of evaluation of this end point
    ? eGFR: screening, clinical investigation visit (after washout)
    ? iGFR:clinical investigation visit (after washout)
    ? ACR, PCR, RBP and ?2-microglobulin, as measured in three first morning void urine samples, each obtained at least 1 week apart and not more than 2 weeks apart.
    ? ECG: clinical investigation visit
    ? Electrocardiography: clinical investigation visit
    ? Information on GI symptoms: screening
    ? PedsQL, PPQ: screening
    ? BPI[SF]: screening
    ? Blood and urine exploratory biomarkers: clinical investigation visit (after washout)
    ? Plasma and urine globotriaosylceramide (total GL-3 and lyso-GL-3):clinical investigation visit
    ? Genotyping for ?GAL gene mutations: clinical investigation visit
    FGe: selección y visitas con investigaciones clínicas (VIC) después del periodo de reposo farmacológico
    FGi: VIC después del periodo de reposo farmacológico (CAC), (CPC), (RBP) y nivel de beta 2-microglobulina en orina medida a partir de tres muestras de orina matutina de primeros vacíos, cada uno obtenido al menos con1 semana de diferencia y no más de 2 semanas de diferencia.
    ECG: VIC
    Ecocardiograma: VIC
    Información sobre los síntomas GI: selección
    (PedsQL) y (PPQ): selección
    (BPI-SF): selección
    Biomarcadores exploratorios en sangre y orina: VIC después del periodo de reposo farmacológico
    Globotriosilceramida (GL-3 total y liso-GL-3) en plasma: VIC
    Genotipificación de las mutaciones del gen ?GAL: VIC
    en ?GAL: VIC
    E.5.2Secondary end point(s)
    Safety will be assessed by evaluation of the incidence of adverse events (AEs), especially those events at least possibly related to iohexol or to other study procedures.
    La seguridad se evaluará en función de la incidencia de los acontecimientos adversos (AA), especialmente
    aquellos que estén por lo menos posiblemente relacionados con iohexol o con otros procedimientos del estudio.
    E.5.2.1Timepoint(s) of evaluation of this end point
    Continuous monitoring throughout the study from written informed consent through the follow-up phone contact.
    Continua monitorización durante el estudio desde la firma del consentimiento informado hasta el contacto telefónico de seguimiento.
    E.6 and E.7 Scope of the trial
    E.6Scope of the trial
    E.6.1Diagnosis No
    E.6.2Prophylaxis No
    E.6.3Therapy No
    E.6.4Safety No
    E.6.5Efficacy No
    E.6.6Pharmacokinetic No
    E.6.7Pharmacodynamic No
    E.6.8Bioequivalence No
    E.6.9Dose response No
    E.6.10Pharmacogenetic No
    E.6.11Pharmacogenomic No
    E.6.12Pharmacoeconomic No
    E.6.13Others Yes
    E.6.13.1Other scope of the trial description
    This study is an invasive observational study to determine the natural course of disease.
    E.7Trial type and phase
    E.7.1Human pharmacology (Phase I) Yes
    E.7.1.1First administration to humans No
    E.7.1.2Bioequivalence study No
    E.7.1.3Other Yes
    E. trial type description
    Cross-sectional study
    Estudio transversal
    E.7.2Therapeutic exploratory (Phase II) No
    E.7.3Therapeutic confirmatory (Phase III) No
    E.7.4Therapeutic use (Phase IV) No
    E.8 Design of the trial
    E.8.1Controlled No
    E.8.1.1Randomised No
    E.8.1.2Open No
    E.8.1.3Single blind No
    E.8.1.4Double blind No
    E.8.1.5Parallel group No
    E.8.1.6Cross over No
    E.8.1.7Other No
    E.8.2 Comparator of controlled trial
    E.8.2.1Other medicinal product(s) No
    E.8.2.2Placebo No
    E.8.2.3Other No
    E.8.3 The trial involves single site in the Member State concerned No
    E.8.4 The trial involves multiple sites in the Member State concerned Yes
    E.8.4.1Number of sites anticipated in Member State concerned2
    E.8.5The trial involves multiple Member States Yes
    E.8.5.1Number of sites anticipated in the EEA7
    E.8.6 Trial involving sites outside the EEA
    E.8.6.1Trial being conducted both within and outside the EEA Yes
    E.8.6.2Trial being conducted completely outside of the EEA No
    E.8.6.3If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned
    United Kingdom
    United States
    E.8.7Trial has a data monitoring committee No
    E.8.8 Definition of the end of the trial and justification where it is not the last visit of the last subject undergoing the trial
    Last patient last safety follow-up phone contact
    E.8.9 Initial estimate of the duration of the trial
    E.8.9.1In the Member State concerned years3
    E.8.9.1In the Member State concerned months1
    E.8.9.1In the Member State concerned days0
    E.8.9.2In all countries concerned by the trial years3
    E.8.9.2In all countries concerned by the trial months1
    E.8.9.2In all countries concerned by the trial days0
    F. Population of Trial Subjects
    F.1 Age Range
    F.1.1Trial has subjects under 18 Yes
    F.1.1Number of subjects for this age range: 30
    F.1.1.1In Utero No
    F.1.1.2Preterm newborn infants (up to gestational age < 37 weeks) No
    F.1.1.3Newborns (0-27 days) No
    F.1.1.4Infants and toddlers (28 days-23 months) No
    F.1.1.5Children (2-11years) Yes
    F. of subjects for this age range: 15
    F.1.1.6Adolescents (12-17 years) Yes
    F. of subjects for this age range: 15
    F.1.2Adults (18-64 years) Yes
    F.1.2.1Number of subjects for this age range: 15
    F.1.3Elderly (>=65 years) No
    F.2 Gender
    F.2.1Female No
    F.2.2Male Yes
    F.3 Group of trial subjects
    F.3.1Healthy volunteers No
    F.3.2Patients Yes
    F.3.3Specific vulnerable populations Yes
    F.3.3.1Women of childbearing potential not using contraception No
    F.3.3.2Women of child-bearing potential using contraception No
    F.3.3.3Pregnant women No
    F.3.3.4Nursing women No
    F.3.3.5Emergency situation No
    F.3.3.6Subjects incapable of giving consent personally Yes
    F. of subjects incapable of giving consent
    Male patients between 5-25 will be included in this study. Four specific subject informed consent forms are available for this trial: the age group 5-11, 12-17, ? 18 and parent(s)/legal guardian(s).
    F.3.3.7Others No
    F.4 Planned number of subjects to be included
    F.4.1In the member state5
    F.4.2 For a multinational trial
    F.4.2.1In the EEA 30
    F.4.2.2In the whole clinical trial 45
    F.5 Plans for treatment or care after the subject has ended the participation in the trial (if it is different from the expected normal treatment of that condition)
    The plans for treatment or care after the subject has ended his participation in the trial is up to the treating physician. There is the possibility to switch to commercially available product Fabrazyme or other enzyme replacement therapies.
    G. Investigator Networks to be involved in the Trial
    N. Review by the Competent Authority or Ethics Committee in the country concerned
    N.Competent Authority Decision Authorised
    N.Date of Competent Authority Decision2012-10-25
    N.Ethics Committee Opinion of the trial applicationFavourable
    N.Ethics Committee Opinion: Reason(s) for unfavourable opinion
    N.Date of Ethics Committee Opinion2012-10-15
    P. End of Trial
    P.End of Trial StatusCompleted
    P.Date of the global end of the trial2016-08-17
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