Brain study
Brain imaging and Cognition in patients with DMD
Locations:
trialComplete
Newcastle
,
Primary Outcome Measures
Quantitative assessment of progressiveness of pathological changes in brain associated with dystrophin absence and cognitive impairment by:
Comparison upon follow-up of
- cerebral (sub-)volumes
- localization of differences in cerebral volumes
- cortical thickness
- cerebral perfusion
- anatomical connectivity
- functional connectivity
- metabolism as assessed by diffusion weighted spectroscopy (DWS)
Secondary Outcome Measures
To study the relationship between the above mentioned MR parameters and:
- the results from neuropsychological testing and behavioral functioning
- the DMD gene mutation
Can I take part?
Inclusion Criteria
- DMD patients of eight years and older with a known genetic mutation in the dystrophin gene.
- Male disease controls of similar age to the DMD boys with mutations affecting the dystrophin glycoprotein complex, but intact dystrophin.
- Healthy boys of eight years or older form the control group.
Exclusion Criteria
General exclusion criteria are:
- 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
Exclusion criteria for healthy controls
- any muscle disease
- a brain disorder (such as severe brain concussion in past history, congenital brain anomalies, epilepsy)
Age
8 - 8 years
Mutation Specific
Non-mutation Specific Therapies
Muscle Biopsy
Not Required
Ambulation
both