CARE CDM
Research type
Research Study
Full title
CArdio-REspiratory function in adult patients with Congenital Myotonic Dystrophy
IRAS ID
321306
Contact name
Chris Turner
Contact email
Sponsor organisation
University College London (UCL)
Duration of Study in the UK
0 years, 11 months, 31 days
Research summary
Myotonic Dystrophy type 1 (DM1) is the most common form of adult onset muscular dystrophy or "muscle wasting disease". DM1 affects 8,000 people in the UK. It is an autosomal dominant disorder which means that there is a 50% chance of passing on the condition with each pregnancy.
Congenital myotonic dystrophy (CDM) is the most severe form of DM1 which is apparent from birth with breathing problems, feeding difficulties, poor muscle tone, foot abnormalities. It is usually passed down from a more mildly affected mother. CDM is similar to adult onset DM1 and affects many parts of the body including the muscles, brain, heart, lungs, hormone glands such as the thyroid, eyes and bowels. People with CDM unfortunately are at increased risk of dying at a young age and often below the age of 30 years. There are often several decades of poor quality life before this and patients often need significant support from families and other carers, including their mother who is struggling with her own medical problems of adult onset DM1.
CDM and DM1 are caused by a "CTG repeat expansion" in the DMPK gene. This is a small piece of DNA which in people without DM1 can repeat itself up to 50 times. In DM1 the repeats are increased up to several hundreds of times and in CDM up to several thousands of times. This "CTG repeat expansion" affects molecules called "RNA" which causes proteins to be made which are damaging to cells.
The overall goal of this study is to improve how we currently provide care for CDM patients by being able to predict who needs support for their heart function, breathing, sleepiness and walking so that we can treat these problems before they become a major health concern.REC name
Yorkshire & The Humber - Bradford Leeds Research Ethics Committee
REC reference
23/YH/0291
Date of REC Opinion
4 Jan 2024
REC opinion
Further Information Favourable Opinion