Brain Involvement in Dystrophinopathies Part 1
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|ClinicalTrials.gov Identifier: NCT04583917|
Recruitment Status : Recruiting
First Posted : October 12, 2020
Last Update Posted : May 13, 2021
|Condition or disease|
|Duchenne Muscular Dystrophy Becker Muscular Dystrophy|
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.
The investigators 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.
|Study Type :||Observational|
|Estimated Enrollment :||800 participants|
|Official Title:||Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5) Part 1: a Multicentre Online Phenotyping and Neurobehavioural Data Collection Study|
|Actual Study Start Date :||March 30, 2021|
|Estimated Primary Completion Date :||February 2023|
|Estimated Study Completion Date :||February 2023|
- CNS Comorbidity Pheotyping [ Time Frame: 90 minutes ]Correlate CNS comorbidity phenotypes with genotype in DMD and BMD patients
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04583917
|Contact: Francesco Muntoni||020 7905 firstname.lastname@example.org|
|Universidad Complutense de Madrid||Recruiting|
|Contact: Mr Miranda (+34) 91 394 6138 email@example.com|
|Principal Investigator:||Francesco Muntoni||University College, London|