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Natural History of Duchenne Muscular Dystrophy

key information

study id #: NCT03882827

condition: Duchenne Muscular Dystrophy

status: not yet recruiting


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 6 Years over a period of 6 to 24 months using disease appropriate evaluations.

mechanism of action: No pharmaceutical intervention

results: https://clinicaltrials.gov/ct2/show/results/NCT03882827

last updated: May 31, 2019

study details

start date: June 30, 2019

estimated completion: April 30, 2021

phase of development: N/A

size / enrollment: 30

study description:
Study duration from FPFV: Q1 2019 to LPLV: Q3 2021
Primary Ojectives:
• To assess the natural disease course using standardized and disease appropriate evaluations over a period of 6 to 24 months in a cohort of young male subjects aged from 4 to 6 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.

primary outcomes:

  • NSAA scale [ Time Frame: Screening 24 months ]
    NSAA scale (age appropriate modified North Star Ambulatory Assessment)
  • 10 Meter Walk/ Run test (10MW/RT) [ Time Frame: Screening 24 months ]
    Time function Test
  • 6 Minutes Walk Test (6 MWT) [ Time Frame: Screening 24 months ]
    Motor Function Measurement
  • Myoset : Myo-grip, -pinch [ Time Frame: Inclusion 24 months ]
    Motor Function Measurement
  • ACTIMYO [ Time Frame: Inclusion 24 months ]
    Motor Function Measurement
  • Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI) [ Time Frame: Inclusion 24 months ]
    Muscle Imaging
  • Pulmonary Function Test (PFT) [ Time Frame: Inclusion 24 months ]
    Respiratory Function Assessment
  • ECG - Echocardiography [ Time Frame: Inclusion 24 months ]
    Cardiac Function Assessment
  • ACTIVLIM [ Time Frame: Inclusion 24 months ]
    Patient Reported Outcome

inclusion criteria:
• Male
• 4 to 6 years old inclusive
• Body-Weight the 70th percentile of WHO body-weight scale
• Diagnosis of DMD based upon Gene testing positive with detailed genotyping
• Able to achieve:
- NSAA (North Star Ambulatory Assessment) scale 18 (with a maximum of 2 points difference between inclusion and screening visits) and/or:
- Gowers test 7 sec
- 6 Minute Walk Test (6MWT) 350 meters at screening visit (M1) and at inclusion visit (M0) with the distance being 20% of each other
• Ongoing corticosteroid therapy or initiation of corticosteroid therapy according to standard of care in the previous 3 months
• Signed informed consent by at least one parent(s) in UK and both parents in France or legal guardian representative(s), when applicable
• Affiliated Beneficiary of the National Health Care scheme

exclusion criteria:
• Cardiomyopathy based on physical cardiological examination and echocardiography with Left Ventricular 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
• Nuclear Magnetic Resonance Imaging (NMRI): metal implants in regions of interest for the study
• 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) prior to the screening visit of the study
• Concomitant participation to any other clinical trial

study contacts

sponsor: Genethon

contacts: Francesco Muntoni Pr, +44 02079052602, hinal.patel@ucl.ac.uk

locations: France, United Kingdom