Natural History of Duchenne Muscular Dystrophy

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

Detailed 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.

Official Title
-----------------
A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 5 to 9 Years

Conditions
-----------------
Duchenne Muscular Dystrophy

Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Male 5 to 9 years old inclusive Body-Weight < or = 75th percentile of BMI body-mass index scale (according to validated scale in force in the country site) Diagnosis of DMD based upon Gene testing positive with detailed genotyping 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 Ongoing corticosteroid therapy or initiation of corticosteroid therapy according to standard of care in the previous 3 months 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 Affiliated Beneficiary of the National Health Care scheme Exclusion Criteria: Cardiomyopathy based on physical cardiological examination and echocardiography with Left Ventricular Ejection Fraction (LVEF) below 55% Respiratory Assistance: need for either a diurnal and/or a nocturnal ventilation 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 Muscle testing: inability to cooperate with Nuclear Magnetic Resonance Imaging (NMRI): metal implants in regions of interest for the study Unwilling and/or unable to comply with all the study protocol requirements and or procedures 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 Concomitant participation to any other clinical trial

Ages Eligible for Study
-----------------
Minimum Age: 5 Years
Maximum Age: 9 Years

Sexes Eligible for Study
-----------------
Male

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------
What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| NSAA scale | NSAA scale (age appropriate modified North Star Ambulatory Assessment) | Screening 36 months | 
| 10 Meter Walk/ Run test (10MW/RT) | Time function Test | Screening 36 months | 
| 6 Minutes Walk Test (6 MWT) | Motor Function Measurement | Screening 36 months | 
| Myoset : Myo-grip, -pinch | Motor Function Measurement | Inclusion 36 months | 
| ACTIMYO | Motor Function Measurement | Inclusion 36 months | 
| Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI) | Muscle Imaging | Inclusion 36 months | 
| Pulmonary Function Test (PFT) | Respiratory Function Assessment | Inclusion 36 months | 
| ECG - Echocardiography | Cardiac Function Assessment | Inclusion 36 months | 
| ACTIVLIM | Patient Reported Outcome | Inclusion 36 months | 
| EQ-5D | Questionnaire of Life | Inclusion 36 months |