DM1-Neuro
Research type
Research Study
Full title
Structural CNS changes, neuropsychological impairment and sleep disorder in myotonic dystrophy type 1: a genotype-phenotype study.
IRAS ID
126143
Contact name
Mark J Hamilton
Contact email
Sponsor organisation
NHS Greater Glasgow and Clyde
Duration of Study in the UK
3 years, 0 months, 4 days
Research summary
Myotonic dystrophy type 1 (DM1) is the commonest inherited muscle disorder in adults. DM1 affects the body in many ways, but patients report that among the most debilitating symptoms are those relating to its effects on the brain such as slow thinking, apathy and sleepiness.
DM1 results from the expansion of a sequence of DNA within the DMPK gene. This expansion is unstable, with a tendency to increase in size over successive generations. In general, larger DNA expansions are associated with an earlier onset and more severe symptoms. Critically, the traditional blood test only measures the size of this expansion very approximately, failing to take account of further expansion which occurs over the lifetime of the patient. As a result, patients at present cannot be offered individual-specific prognostic information based on their result.
The Genetic Variation in Myotonic Dystrophy study (DMGV), based at the University of Glasgow, has developed a more accurate method of measuring changes in the DNA expansion over time. We hope to build on this work by investigating how these genetic measures compare to the severity of brain-related symptoms in 40 DM1 patients using MRI scans, sleep studies and tests of memory and thinking. We will also recruit 20 healthy controls for MRI and thinking tests.
Improved understanding of the relationships between the genetic change and symptoms has many potential patient benefits, including more prognostic information being available from a diagnostic test and guiding work to discover new drugs to treat DM1. In addition, data from this study will help improve the design of clinical trials of new treatments for myotonic dystrophy by helping stratify patients into more comparable subgroups, as well as identifying the most meaningful measurements to demonstrate changes in brain-related symptoms.REC name
West of Scotland REC 4
REC reference
15/WS/0189
Date of REC Opinion
24 Sep 2015
REC opinion
Further Information Favourable Opinion