Natural History of Duchenne Muscular Dystrophy

Last updated: February 10, 2026
Sponsor: Genethon
Overall Status: Active - Recruiting

Phase

N/A

Condition

Muscular Dystrophy

Treatment

N/A

Clinical Study ID

NCT03882827
GNT-014-MDYF
  • Ages 4-9
  • Male

Study Summary

Baseline Study on Duchenne Muscular Dystrophy (DMD) in view to collect data on the natural disease course in a cohort in young male subjects aged from 4 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  1. Male

  2. 4 to 9 years old inclusive

  3. Body-weight ≤ 95th percentile or the BMI scale ≤ 95th percentile (according tovalidated scale in force in country site). Related to the DMD disease:

  4. Diagnosis of DMD based upon documented gene testing with detailed genotyping

  5. Able to achieve at inclusion and screening visits:

  6. NSAA (North Star Ambulatory Assessment) scale > 18 or ≥ 16 if participant isbetween 4 and < 5 years old at screening and:

  7. Gowers test < or = 7 sec and/or

  8. 6-Minute Walk Test (6MWT): a distance ≥ 350 meters at inclusion visit (M0)

  9. Ongoing corticosteroid therapy or initiation of corticosteroid therapy according tostandard of care prior to Screening visit Related to the study protocol and ICH/GCP (Good Clinical Practice) requirements:

  10. Signed informed consent by at least one parent or both parents or legal guardianrepresentative(s), when applicable and according to the country regulation

  11. Affiliated to or a beneficiary of a Health Care scheme (according to countryregulation)

Exclusion

Exclusion Criteria: Subject will be excluded from enrolment into the study for any of the followingreasons: Related to the DMD disease severity:

  1. Cardiomyopathy based on physical/cardiological examination and echocardiography withLeft Ventricular Simpson biplane Ejection Fraction (LVEF) below 55%

  2. Respiratory Assistance: need for either a diurnal and/or a nocturnal ventilation

  3. Any co-morbidity (ies) and or previous or planned surgical event(s) which mayinterfere with DMD natural evolution and or evaluation of outcomes designed toassess DMD Natural History Related to specific assessments:

  4. Muscle testing: inability to cooperate with

  5. MRI: metal implants in regions of interest for the study Related to the study protocol and ICH/GCP requirements:

  6. Unwilling and/or unable to comply with all the study protocol requirements and/orprocedures

  7. Previous inclusion to another clinical trial with an Investigational MedicinalProduct (IMP), within the 3 months or IMP washout period (whichever is longer) priorto the screening visit of the study

  8. Previously treated with a gene therapy drug for DMD, such as:

  • any AAV mediated gene transfer products or any gene editing products in aclinical trial or in a clinical setting,

  • if exons skipping drug was used, the last dose of exon skipping drug within 5half-lives prior to the screening visit

  1. Concomitant participation to any other interventional clinical trial

Study Design

Total Participants: 220
Study Start date:
December 19, 2019
Estimated Completion Date:
September 30, 2029

Study Description

Study duration from FPFV: Q1 2019 to LPLV: Q4 2026

Primary Ojectives:

  • To assess the natural disease course using standardized and disease appropriate evaluations in a cohort of young male subjects aged from 4 to 9 years at inclusion and diagnosed for Duchenne Muscular Dystrophy (DMD).

  • To record a baseline period prior to rolling over into a gene therapy phase I/II/III clinical study.

Secondary Objectives:

  • To identify clinical, imaging and/or laboratory parameters that could be predictive indicators of the disease course in DMD, within the selected range of age.

  • To identify the best outcome measure(s) for further clinical trial assessments.

Connect with a study center

  • Centre Hospitalier Universitaire Brugmann

    Brussels 2800866, 1020
    Belgium

    Active - Recruiting

  • UZ Leuven

    Leuven 2792482, 3000
    Belgium

    Active - Recruiting

  • CHR Hôpital de la Citadelle

    Liège 2792413, 4000
    Belgium

    Site Not Available

  • University Hospital of Bordeaux

    Bordeaux, 33076
    France

    Site Not Available

  • University Hospital of Bordeaux

    Bordeaux 3031582, 33076
    France

    Active - Recruiting

  • Brest University Hospital Centre

    Brest, 29609
    France

    Site Not Available

  • Brest University Hospital Centre

    Brest 3030300, 29609
    France

    Active - Recruiting

  • Hopital Femme Mere Enfant

    Bron, 69677
    France

    Site Not Available

  • Hopital Femme Mere Enfant

    Bron 3029931, 69677
    France

    Active - Recruiting

  • CHU Lille

    Lille, 59000
    France

    Site Not Available

  • CHU Lille

    Lille 2998324, 59000
    France

    Active - Recruiting

  • Hopital la Timone Enfants

    Marseille, 13385
    France

    Site Not Available

  • Hopital la Timone Enfants

    Marseille 2995469, 13385
    France

    Active - Recruiting

  • Centre Hospitalier Universitaire - Hôpital Gui de Chauliac

    Montpellier 2992166, 34295
    France

    Site Not Available

  • Hôpital Armand Trousseau

    Paris, 75011
    France

    Site Not Available

  • Hôpital Armand Trousseau

    Paris 2988507, 75011
    France

    Active - Recruiting

  • Hôpital Hautepierre

    Strasbourg, 67000
    France

    Site Not Available

  • Hôpital Hautepierre

    Strasbourg 2973783, 67000
    France

    Active - Recruiting

  • Hospital Sant Joan de Deu Esplugues de Llobregat

    Esplugues de Llobregat 3122826, 8950
    Spain

    Active - Recruiting

  • Hospital La Fe de Valencia

    Valencia 2509954, 46026
    Spain

    Site Not Available

  • Great Ormond Street Hospital

    London,
    United Kingdom

    Site Not Available

  • Great Ormond Street Hospital & University College London Hospital

    London, WC1N 1EH
    United Kingdom

    Active - Recruiting

  • Great Ormond Street Hospital & University College London Hospital

    London 2643743, WC1N 1EH
    United Kingdom

    Active - Recruiting

  • Institute of Genetic Medicine

    Newcastle,
    United Kingdom

    Site Not Available

  • Institute of Genetic Medicine

    Newcastle 6695976,
    United Kingdom

    Active - Recruiting

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