Natural history of Duchenne muscular dystrophy in boys aged 4–9

A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 4 to 9 Years

This project will follow boys aged 4–9 with Duchenne muscular dystrophy for 6–36 months to collect standard clinical, imaging, and lab data and create a baseline before possible gene therapy.

Quick facts

• Study type: Observational
• Enrollment: 220 (estimated)
• Ages: 4 Years to 9 Years
• Sex: Male
• Sponsor: Genethon (Academic / other)
• Locations: 15 sites (Brussels and 14 other locations)
• Trial ID: NCT03882827 on ClinicalTrials.gov

What this trial studies

This is a longitudinal observational cohort that follows ambulatory boys with genetically confirmed Duchenne muscular dystrophy using standardized assessments such as the North Star Ambulatory Assessment, 6‑Minute Walk Test, and timed Gowers maneuver. Participants are seen regularly over a 6 to 36 month period at specialist centers in Belgium to document disease progression. The protocol aims to identify clinical, imaging, and laboratory measures that predict short‑term course and to determine the best outcome measures for future interventional trials. Data collected will serve as a baseline period for participants who may later roll over into a gene therapy phase I/II/III program.

Who should consider this trial

Good fit: Ideal candidates are boys aged 4 to 9 with genetically confirmed DMD who are ambulatory and meet the NSAA, 6MWT, or Gowers thresholds and are on or starting standard corticosteroid therapy.

Not a fit: Patients who are non-ambulatory, outside the 4–9 age range, lack genetic confirmation of DMD, or have major comorbidities are unlikely to gain direct benefit from this observational baseline program.

Why it matters

Potential benefit: If successful, the data could provide robust natural-history benchmarks to improve trial design, timing, and interpretation of outcomes for gene therapies in DMD.

How similar studies have performed: Multiple prior natural-history cohorts in DMD have successfully defined progression patterns and outcome measures, so this approach is well established.

Eligibility criteria

Inclusion Criteria:

1. Male
2. 4 to 9 years old inclusive
3. Body-weight ≤ 95th percentile or the BMI scale ≤ 95th percentile (according to validated 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:

   1. NSAA (North Star Ambulatory Assessment) scale \> 18 or ≥ 16 if participant is between 4 and \< 5 years old at screening and:
   2. Gowers test \< or = 7 sec and/or
   3. 6-Minute Walk Test (6MWT): a distance ≥ 350 meters at inclusion visit (M0)
6. Ongoing corticosteroid therapy or initiation of corticosteroid therapy according to standard of care prior to Screening visit

   Related to the study protocol and ICH/GCP (Good Clinical Practice) requirements:
7. Signed informed consent by at least one parent or both parents or legal guardian representative(s), when applicable and according to the country regulation
8. Affiliated to or a beneficiary of a Health Care scheme (according to country regulation)

   Exclusion Criteria:

   Subject will be excluded from enrolment into the study for any of the following reasons:

   Related to the DMD disease severity:
9. Cardiomyopathy based on physical/cardiological examination and echocardiography with Left Ventricular Simpson biplane Ejection Fraction (LVEF) below 55%
10. Respiratory Assistance: need for either a diurnal and/or a nocturnal ventilation
11. Any co-morbidity (ies) and or previous or planned surgical event(s) which may interfere with DMD natural evolution and or evaluation of outcomes designed to assess DMD Natural History

    Related to specific assessments:
12. Muscle testing: inability to cooperate with
13. MRI: metal implants in regions of interest for the study

    Related to the study protocol and ICH/GCP requirements:
14. Unwilling and/or unable to comply with all the study protocol requirements and/or procedures
15. Previous inclusion to another clinical trial with an Investigational Medicinal Product (IMP), within the 3 months or IMP washout period (whichever is longer) prior to the screening visit of the study
16. Previously treated with a gene therapy drug for DMD, such as:

    * any AAV mediated gene transfer products or any gene editing products in a clinical trial or in a clinical setting,
    * if exons skipping drug was used, the last dose of exon skipping drug within 5 half-lives prior to the screening visit
17. Concomitant participation to any other interventional clinical trial

Where this trial is running

Brussels and 14 other locations

• Centre Hospitalier Universitaire Brugmann — Brussels, Belgium (Recruiting)
• UZ Leuven — Leuven, Belgium (Recruiting)
• CHR Hôpital de la Citadelle — Liège, Belgium (Not_yet_recruiting)
• University Hospital of Bordeaux — Bordeaux, France (Recruiting)
• Brest University Hospital Centre — Brest, France (Recruiting)
• Hopital Femme Mere Enfant — Bron, France (Recruiting)
• CHU Lille — Lille, France (Recruiting)
• Hopital la Timone Enfants — Marseille, France (Recruiting)
• Centre Hospitalier Universitaire - Hôpital Gui de Chauliac — Montpellier, France (Not_yet_recruiting)
• Hôpital Armand Trousseau — Paris, France (Recruiting)
• Hôpital Hautepierre — Strasbourg, France (Recruiting)
• Hospital Sant Joan de Deu Esplugues de Llobregat — Esplugues de Llobregat, Spain (Recruiting)
• Hospital La Fe de Valencia — Valencia, Spain (Active_not_recruiting)
• Great Ormond Street Hospital & University College London Hospital — London, United Kingdom (Recruiting)
• Institute of Genetic Medicine — Newcastle, United Kingdom (Recruiting)

Study contacts

• Principal investigator: Francesco MUNTONI, Pr — Gosh London
• Study coordinator: Francesco MUNTONI, Pr

Conditions Duchenne Muscular Dystrophy