GNT-014-MDYF
Research type
Research Study
Full title
Natural History of Duchenne Muscular Dystrophy, A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 5 to 9 Years
IRAS ID
257202
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
Genethon
Clinicaltrials.gov Identifier
Duration of Study in the UK
2 years, 6 months, 0 days
Research summary
Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive neuromuscular disorder caused by mutations in the dystrophin gene. DMD is affecting around 1/5000 live males, which results in progressive weakness, loss of ambulation and death by the third–fourth decade of life. DMD affected individuals develop muscle weakness in the first years of life. Most patients are diagnosed at before the age of 5 years, when their physical ability diverges markedly from that of their peers. They begin to lose walking distance around age 7, progress to a loss of ambulation in the pre-teenage and early-teenage years. Following cessation of walking, more severe deformities occur, related to habitual posture in the wheelchair. Pain in the muscles is common. Respiratory failure results from restrictive defect. Pulmonary growth is stopped and the vital capacity decreases after the age of ten. Cardiac failure is a major reason for death between twenty and forty years of age.
There is an unmet medical need for the treatment of DMD, as there is no cure and the standard of care is mainly limited to corticosteroids and assistive devices. In recent years, a number of experimental therapeutic approaches have been developed aiming at re-establish the expression of dystrophin to restore the absent dystrophin protein in muscles. Natural History studies, can offer an up-to-date description of the progression of the condition according to concurrent standards of care, and provide baseline data on selected outcomes, prior entry of the patient into a phase I/II first in man study.
The data collected during this study will include clinical examination, muscle timed tests and DMD scales findings, laboratory measurements, muscle imaging, and patient reports of function and feeling. Data will be collected for a sufficient duration (at least 6 months, to two years at a maximum) to capture clinically meaningful outcomes, determine variability in the course of the disease progression and facilitate the assignment of individual patients to individual disease trajectories.
This is a multicentre, international, prospective, longitudinal, non-comparative, interventional, Natural History baseline study. The main design characteristics and objectives of this study is to observe the DMD natural disease course and to generate baseline data that could be used for a future planned gene therapy trial.REC name
West of Scotland REC 1
REC reference
19/WS/0021
Date of REC Opinion
19 Mar 2019
REC opinion
Further Information Favourable Opinion