- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04583917
Brain Involvement in Dystrophinopathies Part 1
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
Study Overview
Status
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 Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Francesco Muntoni
- Phone Number: 020 7905 2869
- Email: f.muntoni@ucl.ac.uk
Study Locations
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Copenhagen, Denmark
- Recruiting
- Copenhagen Neuromuscular Center
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Contact:
- Mads Stemmerik
- Email: mads.peter.godtfeldt.stemmerik@regionh.dk
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Paris, France
- Recruiting
- Imagine Institut Des Maladies Genetiques Necker Enfants Malades Fondation
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Contact:
- Isabelle Desguerre, Prof
- Email: isabelle.desguerre@aphp.fr
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Rome, Italy
- Recruiting
- Universita Cattolica del Sacro Cuore
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Contact:
- Daniela Chieffo, PhD
- Email: danielapiarosaria.chieffo@unicatt.it
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Heeze, Netherlands
- Recruiting
- Stichting Kempenhaeghe
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Contact:
- Jos Hendriksen, Dr
- Email: hendriksenj@kempenhaeghe.nl
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Contact:
- Pien Weerkamp
- Email: WeerkampP@kempenhaeghe.nl
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Madrid, Spain
- Recruiting
- Universidad Complutense de Madrid
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Contact:
- Mr Miranda
- Phone Number: (+34) 91 394 6138
- Email: ruben.miranda@pdi.ucm.es
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London, United Kingdom
- Recruiting
- GOSH/UCL
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Contact:
- Andria Papageorgiou
- Phone Number: +44 (0)20 3987 2199
- Email: andriani.papageorgiou.14@ucl.ac.uk
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Newcastle, United Kingdom
- Recruiting
- University of Newcastle upon Tyne
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Contact:
- Volker Straub, Prof
- Email: volker.straub@newcastle.ac.uk
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Contact:
- Ellie Drummond
- Email: Ellie.Drummond@newcastle.ac.uk
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Cross-Sectional
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
CNS Comorbidity Pheotyping
Time Frame: 90 minutes
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Correlate CNS comorbidity phenotypes with genotype in DMD and BMD patients
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90 minutes
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Collaborators and Investigators
Collaborators
Investigators
- Principal Investigator: Francesco Muntoni, University College, London
Publications and helpful links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 20NM34
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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