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
Sex
MALE
Min age
4 Years
Max age
9 Years
Healthy volunteers
No
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
Primary outcome measure(s)
NSAA scale — Screening 36 months NSAA scale (age appropriate modified North Star Ambulatory Assessment)
10 Meter Walk/ Run test (10MW/RT) — Screening 36 months Time function Test
Raise from floor (RFF) — Screening - 36 months Time function test
6 Minutes Walk Test (6 MWT) — Inclusion 36 months Motor Function Measurement
Myoset : Myo-grip, -pinch — Inclusion 36 months Motor Function Measurement
Stride velocity 95th centile (SV95c) — Inclusion 36 months Motor Function Measurement with wearable device (SYDE)
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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