Natural History of Duchenne Muscular Dystrophy

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

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.

Study Overview

• Status: Recruiting
• Conditions: Duchenne Muscular Dystrophy

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 Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

• Study Contact: Name: Francesco MUNTONI, Pr; Phone Number: +44 02079052602; Email: c.griffith@ucl.ac.uk

Study Locations

• France
  • Bordeaux, France, 33076
    • Recruiting
    • University Hospital of Bordeaux
  • Brest, France, 29609
    • Recruiting
    • Brest University Hospital Centre
  • Bron, France, 69677
    • Recruiting
    • Hopital Femme Mere Enfant
  • Lille, France, 59000
    • Recruiting
    • CHU Lille
  • Marseille, France, 13385
    • Recruiting
    • Hopital la Timone Enfants
  • Paris, France, 75011
    • Recruiting
    • Hôpital Armand Trousseau
  • Strasbourg, France, 67000
    • Recruiting
    • Hôpital Hautepierre
• United Kingdom
  • London, United Kingdom, WC1N 1EH
    • Recruiting
    • Great ormond Street Hospital & University College London Hospital
  • Newcastle, United Kingdom
    • Recruiting
    • Institute of Genetic Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 5 years to 9 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

• Sampling Method: Non-Probability Sample

Study Population

Male 5 to 9 years old inclusive Body-Weight < or = 75th percentile of BMI Body-Mass Index scale

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

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

Collaborators and Investigators

• Sponsor: Genethon
• Investigators: Principal Investigator: Francesco MUNTONI, Pr, GOSH LONDON

Study record dates

Study Major Dates

• Study Start (Actual): December 19, 2019
• Primary Completion (Anticipated): June 30, 2023
• Study Completion (Anticipated): June 30, 2023

Study Registration Dates

• First Submitted: March 18, 2019
• First Submitted That Met QC Criteria: March 19, 2019
• First Posted (Actual): March 20, 2019

Study Record Updates

• Last Update Posted (Actual): September 7, 2022
• Last Update Submitted That Met QC Criteria: September 5, 2022
• Last Verified: September 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Duchenne
• Other Study ID Numbers: GNT-014-MDYF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No