Duchenne Muscular DystrophyNCT03882827
Natural History of Duchenne Muscular Dystrophy
An observational study of Duchenne Muscular Dystrophy, run by Genethon at 15 sites in 4 countries.
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 4 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations. Read more about this study
- Who is it for?
- Ages 4 to 9 years, men only
- Conditions the study is for
- Duchenne Muscular Dystrophy
- How many people
- 220 participants
- Where
- 15 sitesin 4 countries
- Study dates
- 19 Dec 2019to 30 Sep 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 9 years
- Men only
- No healthy volunteers
- Child
Study population: * 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).
Who may be able to join
- 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).
- Related to the DMD disease:
- Diagnosis of DMD based upon documented gene testing with detailed genotyping
- Able to achieve at inclusion and screening visits:
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- 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
- 6-Minute Walk Test (6MWT): a distance ≥ 350 meters at inclusion visit (M0)
- 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)
Who cannot join
- 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:
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- 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
- Previous inclusion to another clinical trial with an Investigational Medicinal Product (IMP), within the 3 months or IMP washout period (whichever is longer) prior to the screening visit of the study
- 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
Trial locations and contacts
15 sites in 4 countries. Contact the study team or a site near you to ask about taking part.
15 sites in 4 countries
France8 sites, 8 recruiting
- Recruiting
University Hospital of Bordeaux
Bordeaux, 33076
- Recruiting
Brest University Hospital Centre
Brest, 29609
- Recruiting
Hopital Femme Mere Enfant
Bron, 69677
- Recruiting
CHU Lille
Lille, 59000
- Recruiting
Hopital la Timone Enfants
Marseille, 13385
- Not yet recruiting
Centre Hospitalier Universitaire - Hôpital Gui de Chauliac
Montpellier, 34295
- Recruiting
Hôpital Armand Trousseau
Paris, 75011
- Recruiting
Hôpital Hautepierre
Strasbourg, 67000
Belgium3 sites, 3 recruiting
- Recruiting
Centre Hospitalier Universitaire Brugmann
Brussels, 1020
- Recruiting
UZ Leuven
Leuven, 3000
- Not yet recruiting
CHR Hôpital de la Citadelle
Liège, 4000
Spain2 sites, 1 recruiting
- Recruiting
Hospital Sant Joan de Deu Esplugues de Llobregat
Esplugues de Llobregat, 8950
- Active, not recruiting
Hospital La Fe de Valencia
Valencia, 46026
United Kingdom2 sites, 2 recruiting
- Recruiting
Great Ormond Street Hospital & University College London Hospital
London, WC1N 1EH
- Recruiting
Institute of Genetic Medicine
Newcastle
About this study
Official title: A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 4 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 4 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.
Read the detailed description
Study duration from FPFV: Q1 2019 to LPLV: Q4 2026
Primary Ojectives:
- To assess the natural disease course using standardized and disease appropriate evaluations in a cohort of young male subjects aged from 4 to 9 years at inclusion and diagnosed for Duchenne Muscular Dystrophy (DMD).
- To record a baseline period prior to rolling over into a gene therapy phase I/II/III 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.
- Conditions
- Duchenne Muscular Dystrophy
- Medical subject headings
- Muscular Dystrophy, Duchenne
What is being measured
The primary outcome is the main question the study is designed to answer.
NSAA scale
NSAA scale (age appropriate modified North Star Ambulatory Assessment)
Measured: Screening 36 months
10 Meter Walk/ Run test (10MW/RT)
Time function Test
Measured: Screening 36 months
Raise from floor (RFF)
Time function test
Measured: Screening - 36 months
6 Minutes Walk Test (6 MWT)
Motor Function Measurement
Measured: Inclusion 36 months
Myoset : Myo-grip, -pinch
Motor Function Measurement
Measured: Inclusion 36 months
Stride velocity 95th centile (SV95c)
Motor Function Measurement with wearable device (SYDE)
Measured: Inclusion 36 months
Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI)
Muscle Imaging
Measured: Inclusion 36 months
Pulmonary Function Test (PFT)
Respiratory Function Assessment
Measured: Inclusion 36 months
ECG - Echocardiography
Cardiac Function Assessment
Measured: Inclusion 36 months
ACTIVLIM
Patient Reported Outcome
Measured: Inclusion 36 months
EQ-5D
Questionnaire of Life
Measured: Inclusion 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Mar 2019
- Study start19 Dec 2019
- Primary completion30 May 2029 (estimated)
- Study completion30 Sep 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Duchenne Muscular DystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 220 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Genethon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Francesco MUNTONI, Pr, Principal investigator, GOSH LONDON
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03882827
- Sponsor's protocol ID
- GNT-014-MDYF
- Status last verified
- Feb 2026
- First submitted
- 18 Mar 2019
- Last updated
- 12 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 4 to 9 Years
- ClinicalTrials.gov ID
- NCT03882827
- Acronym / sponsor ID
- GNT-014-MDYF
- Conditions
- Duchenne Muscular Dystrophy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 220 participants (estimated)
- Lead sponsor
- GenethonUniversity, hospital or other
- Study start
- 19 Dec 2019 (actual)
- Primary completion
- 30 May 2029 (estimated)
- Study completion
- 30 Sep 2029 (estimated)
- First posted
- 20 Mar 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study duration from FPFV: Q1 2019 to LPLV: Q4 2026
Primary Ojectives:
- To assess the natural disease course using standardized and disease appropriate evaluations in a cohort of young male subjects aged from 4 to 9 years at inclusion and diagnosed for Duchenne Muscular Dystrophy (DMD).
- To record a baseline period prior to rolling over into a gene therapy phase I/II/III 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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 4 to 9 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- * 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).
Key inclusion criteria (13 listed)
- 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).
- Diagnosis of DMD based upon documented gene testing with detailed genotyping
- Able to achieve at inclusion and screening visits:
Key exclusion criteria (15 listed)
- 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
- Muscle testing: inability to cooperate with
- MRI: metal implants in regions of interest for the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
NSAA scale
Time frame: Screening 36 months
NSAA scale (age appropriate modified North Star Ambulatory Assessment)
10 Meter Walk/ Run test (10MW/RT)
Time frame: Screening 36 months
Time function Test
Raise from floor (RFF)
Time frame: Screening - 36 months
Time function test
6 Minutes Walk Test (6 MWT)
Time frame: Inclusion 36 months
Motor Function Measurement
Myoset : Myo-grip, -pinch
Time frame: Inclusion 36 months
Motor Function Measurement
Stride velocity 95th centile (SV95c)
Time frame: Inclusion 36 months
Motor Function Measurement with wearable device (SYDE)
Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI)
Time frame: Inclusion 36 months
Muscle Imaging
Pulmonary Function Test (PFT)
Time frame: Inclusion 36 months
Respiratory Function Assessment
ECG - Echocardiography
Time frame: Inclusion 36 months
Cardiac Function Assessment
ACTIVLIM
Time frame: Inclusion 36 months
Patient Reported Outcome
EQ-5D
Time frame: Inclusion 36 months
Questionnaire of Life
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Feb 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Francesco MUNTONI, Pr principal investigator
GOSH LONDON
15 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Duchenne Muscular Dystrophy, run by Genethon at 15 sites in 4 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 15 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 12 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 15 sites in France, Belgium, Spain, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Francesco MUNTONI, Pr (+44 02079052602, c.griffith@ucl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
NSAA scale (time frame: Screening 36 months). The study lists 11 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Feb 2026.