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Natural History of Duchenne Muscular Dystrophy

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ClinicalTrials.gov Identifier: NCT03882827
Recruitment Status : Not yet recruiting
First Posted : March 20, 2019
Last Update Posted : August 21, 2019
Sponsor:
Information provided by (Responsible Party):
Genethon

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

Condition or disease
Duchenne Muscular Dystrophy

Detailed 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.

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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 4 to 6 Years
Estimated Study Start Date : September 15, 2019
Estimated Primary Completion Date : April 30, 2021
Estimated Study Completion Date : October 30, 2021





Primary Outcome Measures :
  1. NSAA scale [ Time Frame: Screening 24 months ]
    NSAA scale (age appropriate modified North Star Ambulatory Assessment)

  2. 10 Meter Walk/ Run test (10MW/RT) [ Time Frame: Screening 24 months ]
    Time function Test

  3. 6 Minutes Walk Test (6 MWT) [ Time Frame: Screening 24 months ]
    Motor Function Measurement

  4. Myoset : Myo-grip, -pinch [ Time Frame: Inclusion 24 months ]
    Motor Function Measurement

  5. ACTIMYO [ Time Frame: Inclusion 24 months ]
    Motor Function Measurement

  6. Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI) [ Time Frame: Inclusion 24 months ]
    Muscle Imaging

  7. Pulmonary Function Test (PFT) [ Time Frame: Inclusion 24 months ]
    Respiratory Function Assessment

  8. ECG - Echocardiography [ Time Frame: Inclusion 24 months ]
    Cardiac Function Assessment

  9. ACTIVLIM [ Time Frame: Inclusion 24 months ]
    Patient Reported Outcome


Biospecimen Retention:   Samples With DNA
Blood and urine


Information from the National Library of Medicine

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Ages Eligible for Study:   4 Years to 6 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Male 4 to 6 years old inclusive Body-Weight the 70th percentile of WHO body-weight scale
Criteria

Inclusion Criteria:

  1. Male
  2. 4 to 6 years old inclusive
  3. Body-Weight the 70th percentile of WHO body-weight scale
  4. Diagnosis of DMD based upon Gene testing positive with detailed genotyping
  5. 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
  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) in UK and both parents in France or legal guardian representative(s), when applicable
  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


Contacts
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Contact: Francesco MUNTONI, Pr +44 02079052602 hinal.patel@ucl.ac.uk

Locations
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France
Hôpital Armand Trousseau Not yet recruiting
Paris, France, 75011
United Kingdom
Great Ormond Street Hospital & University College London Hospital Not yet recruiting
London, United Kingdom, WC1N 1EH
Institute of Genetic Medicine Not yet recruiting
Newcastle, United Kingdom
Sponsors and Collaborators
Genethon

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Responsible Party: Genethon
ClinicalTrials.gov Identifier: NCT03882827     History of Changes
Other Study ID Numbers: GNT-014-MDYF
First Posted: March 20, 2019    Key Record Dates
Last Update Posted: August 21, 2019
Last Verified: August 2019

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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