Brain Involvement in Dystrophinopathies (WP5) Part 1
Research type
Research Study
Full title
Brain Involvement in Dystrophinopathies (BIND): Deep functional phenotyping of Duchenne muscular dystrophy and Becker muscular dystrophy patients (WP5) Part 1.
IRAS ID
287265
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
UCL ICH Great Ormond Street, Joint GOSH/ICH Research & Development Office
Duration of Study in the UK
3 years, 2 months, 31 days
Research summary
Intellectual disability and neurobehavioural comorbidities affect at least 50% of the individuals with Duchenne muscular dystrophy (DMD), which, although a rare genetic disease, is the most common form of muscular dystrophy in childhood. Several studies have documented that 25% of the DMD population has intellectual disability with recent studies suggesting that autism and clinically relevant hyperactivity affects 20% and 25% of DMD boys respectively. A milder allelic variant, named Becker muscular dystrophy (BMD), has similar prevalence in the population and is also associated with variable degrees of central nervous system (CNS) comorbidities, which however have been less well defined.
We will address these deficiencies in a large multicentre study funded by the European Commission (EU H2020) involving 6 countries (Denmark; The Netherlands; France; Spain; Italy and UK) with the largest European neuromuscular centres and advocacy groups. The aim will be to study the neurobehavioural aspects of DMD and BMD as well as their correlation to the genotype.
This study will involve male participants with DMD aged 5-17 years and with BMD aged 5-50 years. It will comprise of online questionnaires that will be completed either by a parent of a participant <17 years or an adult participant. The questionnaires take approximately 70 minutes to complete, however this can be done in multiple sittings.
Currently there is a lack of information to assist the prognosis of CNS comorbidities, as existing databases and registries typically focus on the motor milestones and physical disability of these patients. There is therefore, an urgent need to present the course and outcomes in DMD and BMD patients with a wide range of DMD mutations, to provide information at the point of diagnosis and onwards for families, clinicians and service providers. It will also assist in paving the way to greater biological understanding and personalization of interventions.
REC name
London - Camden & Kings Cross Research Ethics Committee
REC reference
21/LO/0155
Date of REC Opinion
23 Apr 2021
REC opinion
Further Information Favourable Opinion