PhenoDM1
Research type
Research Study
Full title
Myotonic Dystrophy type 1 (DM1) deep phenotyping to improve delivery of personalised medicine and assist in the planning, design and recruitment of clinical trials.
IRAS ID
180510
Contact name
Grainne Gorman
Contact email
Sponsor organisation
Newcastle Joint Research Office
Duration of Study in the UK
1 years, 10 months, 28 days
Research summary
Myotonic Dystrophy type 1 (DM1) is the most common adult muscular dystrophy affecting an estimated 8,000 people in the UK. It is an autosomal dominant disorder associated with a progressive multisystemic disease and there is no cure or disease modifying treatment. The average age of death is 53 years from cardiac and respiratory complications that are usually preceded by decades of morbidity and reduced quality of life. The multisystemic phenotype may be highly variable between patients and therefore the selection of appropriate endpoints for therapeutic trials is of great importance for trial readiness. We therefore intend to deep-phenotype 400 DM1 patients and investigate potential biomarkers over 12 months, which can be used to assess treatment efficacy.
REC name
North East - Newcastle & North Tyneside 1 Research Ethics Committee
REC reference
15/NE/0178
Date of REC Opinion
17 Jul 2015
REC opinion
Further Information Favourable Opinion