Natural History of Duchenne Muscular Dystrophy

Genethon

Status: Enrolling

Conditions: Duchenne Muscular Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT03882827

GNT-014-MDYF

Details and patient eligibility

About

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 5 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.

Full description

Study duration from FPFV: Q1 2019 to LPLV: Q3 2023

Primary Ojectives:

• To assess the natural disease course using standardized and disease appropriate evaluations over a period of 6 to 36 months in a cohort of young male subjects aged from 5 to 9 years at inclusion and diagnosed for Duchenne Muscular Dystrophy (DMD).
• To record a baseline period prior to the setup of an AAV gene therapy dose escalation phase I/II First in Man 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.

Enrollment: 100 estimated patients

Sex: Male

Ages: 5 to 9 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

1. Male

2. 5 to 9 years old inclusive

3. Body-Weight < or = 75th percentile of BMI body-mass index scale (according to validated scale in force in the country site)

4. Diagnosis of DMD based upon Gene testing positive with detailed genotyping

5. Able to achieve:

   • NSAA (North Star Ambulatory Assessment) scale > or =18 (with a maximum of 2 points difference between inclusion and screening visits) and/or:
   • Gowers test < or =7 sec
   • 6 Minute Walk Test (6MWT) > or = 350 meters at screening visit (M1) and at inclusion visit (M0) with the distance being 20% of each other

6. Ongoing corticosteroid therapy or initiation of corticosteroid therapy according to standard of care in the previous 3 months

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

8. Affiliated Beneficiary of the National Health Care scheme

   Exclusion Criteria:

9. Cardiomyopathy based on physical cardiological examination and echocardiography with Left Ventricular 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

12. Muscle testing: inability to cooperate with

13. Nuclear Magnetic Resonance Imaging (NMRI): metal implants in regions of interest for the study

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) prior to the screening visit of the study

16. Concomitant participation to any other clinical trial