Brain INvolvement in Dystrophinopathies: BIND: Deep functional phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy patients (WP5) Part 2

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 110

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:
- Male
- age 18-50 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 that eliminates
expression of Dp140 while preserving expression of Dp427 albeit at reduced
levels (assigned to BMD Group 3) or of all the isoforms (assigned to BMD Group
4).

For MRI healthy controls:
- Male
- age 5-50 years

Exclusion Criteria

For DMD and BMD patients:
- Lack of a molecular diagnosis of DMD or BMD
- Mutation falls outside the regions of interest
- Any other severe co-morbidity or planned surgical intervention within 6
months from the study
- Inability to consent (for parents/guardians and adults) or assent. This will
exclude the rare individuals with extremely severe learning disability, as the
assent in these patients is impossible (or the consent in the adults); in
addition it will not be feasible to perform MRI in this group of patients as we
will not administer general anaesthetic. We anticipate this group will be
enriched in the genotype lacking all dystrophin isoforms, and it is because of
this that we have not indicated what is the precise number of individuals with
this genotype to be recruited.
- Non-Dutch speakers.

For MRI healthy controls:
- any muscle disease
- a brain disorder (such as severe brain concussion in past history, congenital
brain anomalies, epilepsy)
- Non-Dutch speakers

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 for 45 minutes
- not having a general practitioner
- severe learning disability which will require a general anaesthetic

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The primary outcome measure for this study is the measure of intelligence as<br /><br>estimated by the Wechsler Intelligence test. As the sample includes<br /><br>participants from a range of age groups the most appropriate version will be<br /><br>used accordingly*</p><br>

Secondary Outcome Measures