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NCT Number: NCT03882827

Natural History of Duchenne Muscular Dystrophy

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.

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Key information

Conditions

Duchenne Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

4 year–9 year

Sex eligibility

Male

Study type

Observational

Primary location

Centre Hospitalier Universitaire Brugmann, Brussels, Belgium

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion 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).

Related to the DMD disease:

  • Diagnosis of DMD based upon documented gene testing with detailed genotyping
  • Able to achieve at inclusion and screening visits:
  • 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)

Exclusion criteria

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
  • 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

Treatment and study plan

Primary outcomes

  1. NSAA scale

    Time frame: Screening 36 months

    NSAA scale (age appropriate modified North Star Ambulatory Assessment)

  2. 10 Meter Walk/ Run test (10MW/RT)

    Time frame: Screening 36 months

    Time function Test

  3. Raise from floor (RFF)

    Time frame: Screening - 36 months

    Time function test

  4. 6 Minutes Walk Test (6 MWT)

    Time frame: Inclusion 36 months

    Motor Function Measurement

  5. Myoset : Myo-grip, -pinch

    Time frame: Inclusion 36 months

    Motor Function Measurement

  6. Stride velocity 95th centile (SV95c)

    Time frame: Inclusion 36 months

    Motor Function Measurement with wearable device (SYDE)

  7. Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI)

    Time frame: Inclusion 36 months

    Muscle Imaging

  8. Pulmonary Function Test (PFT)

    Time frame: Inclusion 36 months

    Respiratory Function Assessment

  9. ECG - Echocardiography

    Time frame: Inclusion 36 months

    Cardiac Function Assessment

  10. ACTIVLIM

    Time frame: Inclusion 36 months

    Patient Reported Outcome

  11. EQ-5D

    Time frame: Inclusion 36 months

    Questionnaire of Life

Study contacts

Contact information is provided by the study sponsor or research team.

Francesco MUNTONI, Pr

CONTACT

[email protected]

+44 02079052602

Sponsors and collaborators

Lead sponsor

Genethon

Other

Registry information

Official study title

A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 4 to 9 Years

Important dates

Study start
2019
Primary completion
2029
Study completion
2029
First posted
Mar 20, 2019
Registry last updated
Feb 12, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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