Brain Involvement in Dystrophinopathies Part 1

• Sponsor: University College London Hospitals (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT04583917
• Collaborator: Newcastle-upon-Tyne Hospitals NHS Trust (Other), Leiden University Medical Center (Other), Stichting Kempenhaeghe (Other), Region Hovedstadens Apotek (Other), Institut Necker Enfants Malades (Other), Catholic University of the Sacred Heart (Other), Università degli Studi di Ferrara (Other), Universidad Complutense de Madrid (Other)
• Enrollment: 800
• Locations: 2
• Anticipated Duration (Months): 22.1
• Patients Per Site: 400
• Patients Per Site Per Month: 18.1

Study Details

Study Description

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	Intervention/Treatment	Phase
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.

Study Design

• Study Type: Observational
• Anticipated 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: Mar 30, 2021
• Anticipated Primary Completion Date: Feb 1, 2023
• Anticipated Study Completion Date: Feb 1, 2023

Outcome Measures

Primary Outcome Measures

1. CNS Comorbidity Pheotyping [90 minutes]

   Correlate CNS comorbidity phenotypes with genotype in DMD and BMD patients

Eligibility Criteria

Criteria

• Ages Eligible for Study: 5 Years to 50 Years
• Sexes Eligible for Study: Male
• Accepts Healthy Volunteers: No

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Universidad Complutense de Madrid	Madrid		Spain
2	GOSH/UCL	London		United Kingdom

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

• Principal Investigator: Francesco Muntoni, University College, London

Study Documents (Full-Text)

None provided.

More Information

Additional Information:

• BIND: Brain Involvement in Dstrophinopathies study website

Publications

None provided.

• Responsible Party: Professor Francesco Muntoni, Chair of Paediatric Neurology, University College London Hospitals
• ClinicalTrials.gov Identifier: NCT04583917
• Other Study ID Numbers: 20NM34
• First Posted: Oct 12, 2020
• Last Update Posted: Sep 29, 2021
• Last Verified: Sep 1, 2021

• Individual Participant Data (IPD) Sharing Statement: Undecided
• Plan to Share IPD: Undecided
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Muscular Dystrophies; Muscular Dystrophy, Duchenne

Study Results

No Results Posted as of Sep 29, 2021