Brain study

Brain imaging and Cognition in patients with DMD

Hub Summary

This 2-year natural history study is designed to study the progression of pathological changes in the brain associated with the absence of dystrophin. The study will focus on cognitive impairment as well as looking at the relationship between the outcome measures and behavioural functioning.

Study Number: NOT ON clinicaltrials.gov

Description by Newcastle-upon-Tyne Hospitals NHS trust

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

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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)

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UK Locations

Newcastle

Trial Sponsor
Newcastle-upon-Tyne Hospitals NHS trust

Age

8 and over

Mutation Specific

All treatment types

Muscle Biopsy

No Muscle Biopsy Required

MRI

Yes

Phase

Observational

Length Of Participation

2 years

Recruitment Target

Ambulatory

Ambulant and non-ambulant, Not specified

Therapeutic Category

Observational study