Becker muscular dystrophy Duchenne muscular dystrophy
Conditions
Interventions
None listed
Sponsors
University college London
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
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) - corticosteroid use either 10 days on/10 days off prednisolone or Vamorolone 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
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary outcome measure for this study is the measure of intelligence as estimated by the Wechsler Intelligence test. As the sample includes participants from a range of age groups the most appropriate version will be used accordingly* | — |
Secondary
| Measure | Time frame |
|---|---|
| - Intelligence assessment: o Raven 2 nonverbal concept formation - Cognitive function assessments: o Rey auditory learning task o NEPSY-II comprehension of instruction o NEPSY-II speeded naming o NEPSY-II phonological processing o NEPSY-II theory of mind (social cognition) - Attention assessment: o Fepsy simple reaction times - Executive function assessment: o BADS-C key search - Academic attainment assessments: o Speeded reading (WIAT-III, word reading subtest) o Speeded arithmetic (WIAT-III, maths fluency subtest) - MRI o brain (sub-)volumes, cortical thickness, a voxel wise comparison of the local distributions of grey and white matter. Possible changes in volume of specific structures like the hippocampus or the amygdale should also follow from this analysis. o anatomical connectivity( mean diffusivity (MD) and fractional anisotropy (FA). o Resting state and task-based analysis of functional connectivity (ICA and Seed based) o cerebral perfusion by ASL o Analyses of MR spectroscopy with editing for GABA | — |
Countries
Netherlands
Outcome results
None listed