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

 
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)
 
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Trial Status
Ongoing (fully recruited)
UK Locations
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
32
Ambulatory
Ambulant and non-ambulant, Not specified
Therapeutic Category
Observational study