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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
Sponsor:
Collaborators:
Newcastle-upon-Tyne Hospitals NHS Trust
Leiden University Medical Center
Stichting Kempenhaeghe
Region Hovedstadens Apotek
Institut Necker Enfants Malades
Catholic University of the Sacred Heart
Università degli Studi di Ferrara
Universidad Complutense de Madrid
Information provided by (Responsible Party):
Professor Francesco Muntoni, University College London Hospitals

Brief Summary:
The objective of this study is to collect data from a large cohort of individuals with DMD and BMD focusing on the neurobehavioural aspects of these conditions and their correlation to the location of the DMD gene mutation.

Condition or disease
Duchenne Muscular Dystrophy Becker Muscular Dystrophy

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 800 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
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





Primary Outcome Measures :
  1. CNS Comorbidity Pheotyping [ Time Frame: 90 minutes ]
    Correlate CNS comorbidity phenotypes with genotype in DMD and BMD patients



Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 50 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Gender Eligibility Description:   DMD and BMD are sex-linked conditions, which occur predominantly in males.
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients will be those followed in the two neuromuscular centres located in London and Newcastle; via the UK Clinical North Star network, the BIND website and the UK advocacy groups MDUK, Action Duchenne and Duchenne UK. A similar recruitment process will take place in the other EU countries, according to local regulations and after having obtained the relevant local ethical approval.
Criteria

Inclusion Criteria:

For DMD patients:

  • Male
  • age 5-17 years
  • genetically-proven diagnosis of DMD
  • genetic mutation that abrogates expression of Dp427 alone (assigned in DMD Group 1: Dp427-/Dp140+) or both Dp427 and Dp140 (assigned to DMD Group 2: Dp427-/Dp140-); or all isoforms (assigned to DMD group 3)

For BMD patients:

  • age 5-50 years
  • genetically-proven diagnosis of BMD
  • genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2), or of all the isoforms (assigned to BMD group 3).

Exclusion Criteria:

  • Lack of a molecular diagnosis of DMD or BMD
  • Mutation falls outside the regions of interest
  • A severe co-morbidity or planned surgical intervention within 6 months from the study which could interfere with the well-being of the participant

Information from the National Library of Medicine

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


Contacts
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Contact: Francesco Muntoni 020 7905 2869 f.muntoni@ucl.ac.uk

Locations
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Spain
Universidad Complutense de Madrid Recruiting
Madrid, Spain
Contact: Mr Miranda    (+34) 91 394 6138    ruben.miranda@pdi.ucm.es   
Sponsors and Collaborators
University College London Hospitals
Newcastle-upon-Tyne Hospitals NHS Trust
Leiden University Medical Center
Stichting Kempenhaeghe
Region Hovedstadens Apotek
Institut Necker Enfants Malades
Catholic University of the Sacred Heart
Università degli Studi di Ferrara
Universidad Complutense de Madrid
Investigators
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Principal Investigator: Francesco Muntoni University College, London
Additional Information:
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Responsible Party: Professor Francesco Muntoni, Chair of Paediatric Neurology, University College London Hospitals
ClinicalTrials.gov Identifier: NCT04583917    
Other Study ID Numbers: 20NM34
First Posted: October 12, 2020    Key Record Dates
Last Update Posted: May 13, 2021
Last Verified: May 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: Pseudonymised data will be shared amongst collaborating partners in the project, but details on data sharing are still under discussion.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked