Brain Involvement in Dystrophinopathies Part 1

Duchenne Muscular Dystrophy Clinical Trial

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04583917
• Other study ID #: 20NM34
• Status: Recruiting
• Start date: March 30, 2021
• Est. completion date: December 2023

Study information

• Verified date: October 2022
• Source: Great Ormond Street Hospital for Children NHS Foundation Trust
• Contact: Francesco Muntoni
• Phone: 020 7905 2869
• Email: f.muntoni[@]ucl.ac.uk
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 800
• Est. completion date: December 2023
• Est. primary completion date: December 2023
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 5 Years to 50 Years

Eligibility

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

Related Conditions & MeSH terms

• Becker Muscular Dystrophy
• Duchenne Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne

Locations

Country	Name	City	State
Denmark	Copenhagen Neuromuscular Center	Copenhagen
France	Imagine Institut Des Maladies Genetiques Necker Enfants Malades Fondation	Paris
Italy	Universita Cattolica Del Sacro Cuore	Rome
Netherlands	Stichting Kempenhaeghe	Heeze
Spain	Universidad Complutense de Madrid	Madrid
United Kingdom	GOSH/UCL	London
United Kingdom	University of Newcastle Upon Tyne	Newcastle

Sponsors (9)

Lead Sponsor	Collaborator
Great Ormond Street Hospital for Children NHS Foundation Trust	Catholic University of the Sacred Heart, Institut Necker Enfants Malades, Leiden University Medical Center, Newcastle-upon-Tyne Hospitals NHS Trust, Region Hovedstadens Apotek, Stichting Kempenhaeghe, Universidad Complutense de Madrid, Università degli Studi di Ferrara

Countries where clinical trial is conducted

Denmark,  France,  Italy,  Netherlands,  Spain,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	CNS Comorbidity Pheotyping	Correlate CNS comorbidity phenotypes with genotype in DMD and BMD patients	90 minutes

External Links

•   BIND: Brain Involvement in Dstrophinopathies study website