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Natural History of Duchenne Muscular Dystrophy

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ClinicalTrials.gov Identifier: NCT03882827
Recruitment Status : Recruiting
First Posted : March 20, 2019
Last Update Posted : September 7, 2022
Information provided by (Responsible Party):

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.

Condition or disease
Duchenne Muscular Dystrophy

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.

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 5 to 9 Years
Actual Study Start Date : December 19, 2019
Estimated Primary Completion Date : June 30, 2023
Estimated Study Completion Date : June 30, 2023

Primary Outcome Measures :
  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. 6 Minutes Walk Test (6 MWT) [ Time Frame: Screening 36 months ]
    Motor Function Measurement

  4. Myoset : Myo-grip, -pinch [ Time Frame: Inclusion 36 months ]
    Motor Function Measurement

  5. ACTIMYO [ Time Frame: Inclusion 36 months ]
    Motor Function Measurement

  6. Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI) [ Time Frame: Inclusion 36 months ]
    Muscle Imaging

  7. Pulmonary Function Test (PFT) [ Time Frame: Inclusion 36 months ]
    Respiratory Function Assessment

  8. ECG - Echocardiography [ Time Frame: Inclusion 36 months ]
    Cardiac Function Assessment

  9. ACTIVLIM [ Time Frame: Inclusion 36 months ]
    Patient Reported Outcome

  10. EQ-5D [ Time Frame: Inclusion 36 months ]
    Questionnaire of Life

Biospecimen Retention:   Samples With DNA
Blood and urine

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 9 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
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

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03882827

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Contact: Francesco MUNTONI, Pr +44 02079052602 c.griffith@ucl.ac.uk

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University Hospital of Bordeaux Recruiting
Bordeaux, France, 33076
Brest University Hospital Centre Recruiting
Brest, France, 29609
Hopital Femme Mere Enfant Recruiting
Bron, France, 69677
CHU Lille Recruiting
Lille, France, 59000
Hopital la Timone Enfants Recruiting
Marseille, France, 13385
Hôpital Armand Trousseau Recruiting
Paris, France, 75011
Hôpital Hautepierre Recruiting
Strasbourg, France, 67000
United Kingdom
Great Ormond Street Hospital & University College London Hospital Recruiting
London, United Kingdom, WC1N 1EH
Institute of Genetic Medicine Recruiting
Newcastle, United Kingdom
Sponsors and Collaborators
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Principal Investigator: Francesco MUNTONI, Pr GOSH LONDON
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Responsible Party: Genethon
ClinicalTrials.gov Identifier: NCT03882827    
Other Study ID Numbers: GNT-014-MDYF
First Posted: March 20, 2019    Key Record Dates
Last Update Posted: September 7, 2022
Last Verified: September 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked