Natural History of Duchenne Muscular Dystrophy
A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 4 to 9 Years
1 other identifier
observational
220
4 countries
15
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 4 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Dec 2019
Longer than P75 for all trials
15 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
March 18, 2019
CompletedFirst Posted
Study publicly available on registry
March 20, 2019
CompletedStudy Start
First participant enrolled
December 19, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 30, 2029
ExpectedStudy Completion
Last participant's last visit for all outcomes
September 30, 2029
February 12, 2026
February 1, 2026
9.5 years
March 18, 2019
February 10, 2026
Conditions
Outcome Measures
Primary Outcomes (11)
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
Raise from floor (RFF)
Time function test
Screening - 36 months
6 Minutes Walk Test (6 MWT)
Motor Function Measurement
Inclusion 36 months
Myoset : Myo-grip, -pinch
Motor Function Measurement
Inclusion 36 months
Stride velocity 95th centile (SV95c)
Motor Function Measurement with wearable device (SYDE)
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
Eligibility Criteria
* Male * 4 to 9 years old inclusive * Body-weight ≤ 95th percentile or the BMI scale ≤ 95th percentile (according to validated scale in force in country site).
You may qualify if:
- Male
- to 9 years old inclusive
- Body-weight ≤ 95th percentile or the BMI scale ≤ 95th percentile (according to validated scale in force in country site).
- Related to the DMD disease:
- Diagnosis of DMD based upon documented gene testing with detailed genotyping
- NSAA (North Star Ambulatory Assessment) scale \> 18 or ≥ 16 if participant is between 4 and \< 5 years old at screening and:
- Gowers test \< or = 7 sec and/or
- Ongoing corticosteroid therapy or initiation of corticosteroid therapy according to standard of care prior to Screening visit
- Related to the study protocol and ICH/GCP (Good Clinical Practice) requirements:
- Signed informed consent by at least one parent or both parents or legal guardian representative(s), when applicable and according to the country regulation
- Affiliated to or a beneficiary of a Health Care scheme (according to country regulation)
You may not qualify if:
- Subject will be excluded from enrolment into the study for any of the following reasons:
- Related to the DMD disease severity:
- Cardiomyopathy based on physical/cardiological examination and echocardiography with Left Ventricular Simpson biplane 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
- Related to specific assessments:
- Muscle testing: inability to cooperate with
- MRI: metal implants in regions of interest for the study
- Related to the study protocol and ICH/GCP requirements:
- Unwilling and/or unable to comply with all the study protocol requirements and/or procedures
- Previously treated with a gene therapy drug for DMD, such as:
- any AAV mediated gene transfer products or any gene editing products in a clinical trial or in a clinical setting,
- if exons skipping drug was used, the last dose of exon skipping drug within 5 half-lives prior to the screening visit
- Concomitant participation to any other interventional clinical trial
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Genethonlead
Study Sites (15)
Centre Hospitalier Universitaire Brugmann
Brussels, 1020, Belgium
UZ Leuven
Leuven, 3000, Belgium
CHR Hôpital de la Citadelle
Liège, 4000, Belgium
University Hospital of Bordeaux
Bordeaux, 33076, France
Brest University Hospital Centre
Brest, 29609, France
Hopital Femme Mere Enfant
Bron, 69677, France
CHU Lille
Lille, 59000, France
Hopital la Timone Enfants
Marseille, 13385, France
Centre Hospitalier Universitaire - Hôpital Gui de Chauliac
Montpellier, 34295, France
Hôpital Armand Trousseau
Paris, 75011, France
Hôpital Hautepierre
Strasbourg, 67000, France
Hospital Sant Joan de Deu Esplugues de Llobregat
Esplugues de Llobregat, 8950, Spain
Hospital La Fe de Valencia
Valencia, 46026, Spain
Great Ormond Street Hospital & University College London Hospital
London, WC1N 1EH, United Kingdom
Institute of Genetic Medicine
Newcastle, United Kingdom
Biospecimen
Blood and urine
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Francesco MUNTONI, Pr
GOSH LONDON
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 18, 2019
First Posted
March 20, 2019
Study Start
December 19, 2019
Primary Completion (Estimated)
May 30, 2029
Study Completion (Estimated)
September 30, 2029
Last Updated
February 12, 2026
Record last verified: 2026-02