Natural History of Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03882827
• Other study ID #: GNT-014-MDYF
• Status: Recruiting
• Start date: December 19, 2019
• Est. completion date: June 30, 2023

Study information

• Verified date: September 2022
• Source: Genethon
• Contact: Francesco MUNTONI, Pr
• Phone: +44 02079052602
• Email: c.griffith[@]ucl.ac.uk
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: June 30, 2023
• Est. primary completion date: June 30, 2023
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 5 Years to 9 Years

Eligibility

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

Related Conditions & MeSH terms

• Duchenne Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne

Locations

Country	Name	City	State
France	University Hospital of Bordeaux	Bordeaux
France	Brest University Hospital Centre	Brest
France	Hopital Femme Mere Enfant	Bron
France	CHU Lille	Lille
France	Hopital la Timone Enfants	Marseille
France	Hôpital Armand Trousseau	Paris
France	Hôpital Hautepierre	Strasbourg
United Kingdom	Great Ormond Street Hospital & University College London Hospital	London
United Kingdom	Institute of Genetic Medicine	Newcastle

Sponsors (1)

Lead Sponsor	Collaborator
Genethon

Countries where clinical trial is conducted

France,  United Kingdom, 

Outcome

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