Serpins DMD 2
Research type
Research Study
Full title
SERINE PROTEASES, AND THEIR INHIBITORS AND SUBSTRATES, AS BIOMARKERS FOR DUCHENNE MUSCULAR DYSTROPHY
IRAS ID
248062
Contact name
Addolorata Pisconti
Contact email
Sponsor organisation
Alder Hey Children's NHS Trust
Clinicaltrials.gov Identifier
3, Protocol, internal version number
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
DMD is an X-linked genetic disorder caused by mutations in the dystrophin gene leading to progressive muscle weakness and reduced life expectancy as a result of muscle destruction, fibrosis and chronic inflammation. There is no effective treatment or cure for DMD. Biochemical markers currently used for diagnosis (such as Creatine Kinase) rapidly become unreliable as the patient loses muscle mass, and the only accurate way to monitor disease progression is through invasive muscle histological analysis. Consequently, there is an urgent need for noninvasive biomarkers to monitor disease activity in the muscle, both to inform treatment decisions and to provide a platform for future research.
We aim to understand whether: (i) there is a correlation between the levels of specific Serpins and their cognate enzymes in the muscle and the levels of the same quantities in the blood of children affected by DMD; (ii) protein levels and enzymatic activity of specific serine proteases can serve as blood biomarkers for DMD.REC name
HSC REC B
REC reference
18/NI/0103
Date of REC Opinion
22 May 2018
REC opinion
Favourable Opinion