Brain involvement in dystrophinopathies
Research type
Research Study
Full title
Brain involvement in dystrophinopathies (WP2)
IRAS ID
280710
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
Joint R&D Office GOSH/ICH
Duration of Study in the UK
4 years, 11 months, 30 days
Research summary
The primary aim of this project is to fill gaps in our current knowledge regarding the expression of dystrophin in the pre- and post-natal human brain. This information is needed to:
• understand brain co-morbidities (such as autism-spectrum disorders, epilepsy, cognitive deficits) in patients with Duchenne or Becker muscular dystrophies (DMD/BMD).
• improve clinical management of brain involvement for DMD/BMD patients.
• guide the development of brain-targeted treatment approaches.
We will request brain samples of control and DMD/BMD patients from tissue banks in the UK and EU that have been already collected and consented for research. This study involves no recruitment. We will use these brain samples to:
• Determine which regions and cells in the brain express dystrophin and when.
• Co-localise dystrophin with a set of proteins that directly associate with dystrophin in different brain areas.
• If brains from DMD/BMD patients are available, we will determine how the lack of dystrophin affects the proteins that associate with it.This laboratory-based research is funded by two peer-reviewed grants: an international grant from EU Horizon 2020 Research and Innovation framework programme and a grant from Sarepta Therapeutics. University College London is the coordinating centre for the international EU grant that includes collaborating centres in Italy and the Netherlands, which will also process human brain samples as part of this project.
REC name
London - Camden & Kings Cross Research Ethics Committee
REC reference
20/PR/0582
Date of REC Opinion
15 Oct 2020
REC opinion
Favourable Opinion