Natural History of Duchenne Muscular Dystrophy

Recruiting

• Conditions: Duchenne Muscular Dystrophy

• Registration Number: NCT03882827
• Lead Sponsor: Genethon

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.

Study Timeline

• Study First Submitted: 2019-03-18
• Study First Submitted QC: 2019-03-19
• Study First Posted: 2019-03-20
• Study Start: 2019-12-19
• Status Verified: 2022-09
• Last Update Submitted: 2022-09-05
• Last Update Posted: 2022-09-07
• Primary Completion: 2023-06-30
• Study Completion: 2023-06-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Male
• Target Recruitment: 100

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Pulmonary Function Test (PFT)	Inclusion 36 months	Respiratory Function Assessment
ACTIMYO	Inclusion 36 months	Motor Function Measurement
ACTIVLIM	Inclusion 36 months	Patient Reported Outcome
EQ-5D	Inclusion 36 months	Questionnaire of Life
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
6 Minutes Walk Test (6 MWT)	Screening 36 months	Motor Function Measurement
Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI)	Inclusion 36 months	Muscle Imaging
ECG - Echocardiography	Inclusion 36 months	Cardiac Function Assessment
Myoset : Myo-grip, -pinch	Inclusion 36 months	Motor Function Measurement

Trial Locations

Locations (9)

CHU Lille; 🇫🇷 Lille, France

Brest University Hospital Centre; 🇫🇷 Brest, France

University Hospital of Bordeaux; 🇫🇷 Bordeaux, France

Hopital Femme Mere Enfant; 🇫🇷 Bron, France

Hôpital Armand Trousseau; 🇫🇷 Paris, France

Great Ormond Street Hospital & University College London Hospital; 🇬🇧 London, United Kingdom

Hopital la Timone Enfants; 🇫🇷 Marseille, France

Hôpital Hautepierre; 🇫🇷 Strasbourg, France

Institute of Genetic Medicine; 🇬🇧 Newcastle, United Kingdom