Natural History of Duchenne Muscular Dystrophy

Официальное название

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

Обзор

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.

Подробное описание

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.

Первичные конечные точки

• NSAA scale [Срок оценки: Screening 36 months]
• 10 Meter Walk/ Run test (10MW/RT) [Срок оценки: Screening 36 months]
• Raise from floor (RFF) [Срок оценки: Screening - 36 months]
• 6 Minutes Walk Test (6 MWT) [Срок оценки: Inclusion 36 months]
• Myoset : Myo-grip, -pinch [Срок оценки: Inclusion 36 months]
• Stride velocity 95th centile (SV95c) [Срок оценки: Inclusion 36 months]
• Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI) [Срок оценки: Inclusion 36 months]
• Pulmonary Function Test (PFT) [Срок оценки: Inclusion 36 months]
• ECG - Echocardiography [Срок оценки: Inclusion 36 months]
• ACTIVLIM [Срок оценки: Inclusion 36 months]

Критерии участия

Критерии включения

• 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)

Критерии исключения

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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Франция · 8 центров

• University Hospital of Bordeaux — Bordeaux
• Brest University Hospital Centre — Brest
• Hopital Femme Mere Enfant — Bron
• CHU Lille — Lille
• Hopital la Timone Enfants — Marseille
• Centre Hospitalier Universitaire - Hôpital Gui de Chauliac — Montpellier
• Hôpital Armand Trousseau — Paris
• Hôpital Hautepierre — Strasbourg

Бельгия · 3 центра

• Centre Hospitalier Universitaire Brugmann — Brussels
• UZ Leuven — Leuven
• CHR Hôpital de la Citadelle — Liège

Испания · 2 центра

• Hospital Sant Joan de Deu Esplugues de Llobregat — Esplugues de Llobregat
• Hospital La Fe de Valencia — Valencia

Великобритания · 2 центра

• Great Ormond Street Hospital & University College London Hospital — London
• Institute of Genetic Medicine — Newcastle

Идентификаторы

NCT: NCT03882827 · GNT-014-MDYF

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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