Natural History of Duchenne Muscular Dystrophy

NCT ID: NCT03882827

Last Updated: 2022-09-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-12-19

Study Completion Date

2023-06-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Duchenne Muscular Dystrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

5 Years

Maximum Eligible Age

9 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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Genethon

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Francesco MUNTONI, Pr

Role: PRINCIPAL_INVESTIGATOR

GOSH LONDON

Locations

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University Hospital of Bordeaux

Bordeaux, , France

Site Status RECRUITING

Brest University Hospital Centre

Brest, , France

Site Status RECRUITING

Hopital Femme Mere Enfant

Bron, , France

Site Status RECRUITING

CHU Lille

Lille, , France

Site Status RECRUITING

Hopital la Timone Enfants

Marseille, , France

Site Status RECRUITING

Hôpital Armand Trousseau

Paris, , France

Site Status RECRUITING

Hôpital Hautepierre

Strasbourg, , France

Site Status RECRUITING

Great Ormond Street Hospital & University College London Hospital

London, , United Kingdom

Site Status RECRUITING

Institute of Genetic Medicine

Newcastle, , United Kingdom

Site Status RECRUITING

Countries

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France United Kingdom

Central Contacts

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Francesco MUNTONI, Pr

Role: CONTACT

+44 02079052602

Other Identifiers

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GNT-014-MDYF

Identifier Type: -

Identifier Source: org_study_id

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