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

niversity college London0 个研究点目标入组 110 人开始时间: 待定最近更新: 2024年4月15日

适应症

试验速览

暂无简介。

•For DMD patients:
•- 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 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
•For MRI healthy controls:
•- age 5-50 years

•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

发起方

niversity college London