Status:
COMPLETED
Brain Involvement in Dystrophinopathies Part 2
Lead Sponsor:
Great Ormond Street Hospital for Children NHS Foundation Trust
Collaborating Sponsors:
Newcastle-upon-Tyne Hospitals NHS Trust
Leiden University Medical Center
Conditions:
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Eligibility:
MALE
5-50 years
Brief Summary
The objective of this study is to understand the relationship between DMD and BMD brain comorbidities, and the location of the gene mutation which causes the disease.
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...
Eligibility Criteria
Inclusion
- 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).
- For MRI controls:
- Male
- age 5-50 years
Exclusion
- For DMD and BMD patients:
- 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
- For MRI controls:
- any muscle disease
- a brain disorder (such as severe brain concussion in past history, congenital brain anomalies, epilepsy)
- General exclusion criteria for MRI:
- Claustrophobia
- Pacemakers and defibrillators
- Nerve stimulators
- Intracranial clips
- Intraorbital or intraocular metallic fragments
- Cochlear implants
- Ferromagnetic implants (e.g. thoracic implant for scoliosis)
- Inability to lie supine during less than 45 minutes
- not having a general practitioner
- severe learning disability which will require a general anaesthetic
Key Trial Info
Start Date :
October 11 2021
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
June 30 2024
Estimated Enrollment :
339 Patients enrolled
Trial Details
Trial ID
NCT04668716
Start Date
October 11 2021
End Date
June 30 2024
Last Update
July 22 2024
Active Locations (7)
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1
Copenhagen Neuromuscular Center
Copenhagen, Denmark
2
Imagine Institut Des Maladies Genetiques Necker Enfants Malades Fondation
Paris, France
3
Universita Cattolica Del Sacro Cuore
Rome, Italy
4
STICHTING KEMPENHAEGHE/Leiden University Medical Center
Heeze, Netherlands