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Rare Diseases Translational Research - DMD

  • Research type

    Research Study

  • Full title

    Neuromuscular Rare Disease Translational Research in patients with Duchenne Muscular Dystrophy

  • IRAS ID

    151122

  • Contact name

    Emma Pendleton

  • Contact email

    R&DGovernance@gosh.nhs.uk

  • Sponsor organisation

    Great Ormond Street Hospital NHS Foundation Trust

  • Duration of Study in the UK

    2 years, 0 months, 1 days

  • Research summary

    Duchenne Muscular Dystrophy (DMD) is a fatal X-linked inherited muscle disorder, and the second most common single gene disorder, affecting 1 in 3,600 live male births. It classically presents in the first decade with proximal muscle weakness, which leads to progressive loss of ambulation before the age of 13 years. Respiratory, cardiac and orthopaedic complications arise in the second decade and result in premature death. Other multi-systemic features include neuropsychological and cognitive problems.

    DMD occurs as a result of mutations in the dystrophin gene causing the lack of production of the protein. Dystrophin is normally expressed in different tissues and in the skeletal muscles and plays a role as a shock absorber. Despite all cases having virtually absent dystrophin in muscles, the spectrum of clinical presentation can range widely from early loss of ambulation and severe cardiomyopathy in childhood to motor decline in the second decade and mild cardiac impairment.

    Genetic disease modifiers have been recently described in DMD, whilst other have been identified but not validated yet. The expression of these genes in subjects with DMD and the individual genetic profile appears to determine the severity of clinical phenotype and response to treatment with steroids.

    In this study we aim to study a number of genes considered to be modifiers for DMD. To pursue our objective we will identify and obtain DNA samples and clinical information from 400 cases with DMD (300 children and 100 adults) and will stratify them into clinically and genetically defined groups. The participants’ DNA will be analysed by Single Nucleotide Polymorphism (SNP) profiling and correlated to motor performance, age at loss of ambulation, severity of respiratory failure and severity of cardiac impairment.

  • REC name

    London - Bromley Research Ethics Committee

  • REC reference

    14/LO/2229

  • Date of REC Opinion

    7 Jan 2015

  • REC opinion

    Further Information Favourable Opinion