Investigation of bleeding abnormalities in RYR1-related myopathies
Research type
Research Study
Full title
An observational, cross-sectional, non-randomized, questionnaire-based, controlled study of bleeding abnormalities in patients with RYR1-related myopathies.
IRAS ID
187924
Contact name
Heinz Jungbluth
Contact email
Sponsor organisation
King's College London, Guy's Campus
Duration of Study in the UK
2 years, 11 months, 30 days
Research summary
Changes in the skeletal muscle ryanodine receptor (RYR1) gene are one of the most common causes of muscle conditions in humans. RYR1 plays a very important role in muscle function and is crucial for normal muscle contraction. Changes in RYR1 mainly cause muscle weakness, but some individuals carrying RYR1 changes are also at increased risk of having other medical problems, for example suffering adverse reactions to certain general anaesthetics. Individuals carrying RYR1 changes have also recently been found to bleed more easily, but the frequency and severity of the bleeding disorder in individuals with RYR1 changes is currently uncertain.
The aim of the present study is to characterize the bleeding disorder in families affected by changes in the RYR1 gene. To achieve this aim, we will ask patients carrying RYR1 changes and their relatives to complete a short questionnaire commonly used in bleeding clinics to assess the frequency and severity of bleeding in patients with bleeding disorders. The bleeding questionnaire has 6 pages and will take between 5 and 10 minutes to complete.
This project will provide important information concerning a currently not well-recognized manifestation of a common inherited muscle condition. The project will help to improve management and care of patients with RYR1-related muscle disorders and their relatives.REC name
West of Scotland REC 5
REC reference
15/WS/0204
Date of REC Opinion
7 Oct 2015
REC opinion
Further Information Favourable Opinion