Clinical trial NCT03882827: Natural History of Duchenne Muscular Dystrophy
Official title: A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 5 to 9 Years
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Duchenne Muscular Dystrophy
Lead sponsor: Genethon
Sponsor class: OTHER
First posted: 2019-03-20
Enrollment: 100
Sex: MALE
Minimum age (years): 5
Maximum age (years): 9
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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

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.

Eligibility criteria: 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

Primary outcomes:
measure: NSAA scale
timeFrame: Screening 36 months
measure: 10 Meter Walk/ Run test (10MW/RT)
timeFrame: Screening 36 months
measure: 6 Minutes Walk Test (6 MWT)
timeFrame: Screening 36 months
measure: Myoset : Myo-grip, -pinch
timeFrame: Inclusion 36 months
measure: ACTIMYO
timeFrame: Inclusion 36 months
measure: Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI)
timeFrame: Inclusion 36 months
measure: Pulmonary Function Test (PFT)
timeFrame: Inclusion 36 months
measure: ECG - Echocardiography
timeFrame: Inclusion 36 months
measure: ACTIVLIM
timeFrame: Inclusion 36 months
measure: EQ-5D
timeFrame: Inclusion 36 months
Secondary outcomes:
Other outcomes:
Locations:
city: Bordeaux
country: France
facility: University Hospital of Bordeaux
city: Brest
country: France
facility: Brest University Hospital Centre
city: Bron
country: France
facility: Hopital Femme Mere Enfant
city: Lille
country: France
facility: CHU Lille
city: Marseille
country: France
facility: Hopital la Timone Enfants
city: Paris
country: France
facility: Hôpital Armand Trousseau
city: Strasbourg
country: France
facility: Hôpital Hautepierre
city: London
country: United Kingdom
facility: Great Ormond Street Hospital & University College London Hospital
city: Newcastle
country: United Kingdom
facility: Institute of Genetic Medicine
Study officials:
affiliation: GOSH LONDON
name: Francesco MUNTONI, Pr
role: PRINCIPAL_INVESTIGATOR
References: