RYR1-RM Endpoints Study V2.0
Research type
Research Study
Full title
An Observational Study in Participants with Ryanodine Receptor 1-Related Myopathies (RYR1-RM) to Determine Optimal Endpoint Measurements.
IRAS ID
332878
Contact name
Rosaline Quinlivan
Contact email
Sponsor organisation
ARMGO Pharma
Duration of Study in the UK
0 years, 5 months, 0 days
Research summary
Ryanodine receptor 1-related myopathies (RYR1-RM) are rare diseases that result in a wide range of symptoms including muscle weakness, pain and fatigue. Individuals are born with RYR1-RM, inheriting either a gene mutation from one or both parents (which effects the severity of disease) or through spontaneous mutation within the DNA of the gene. There is no current treatment available.
ARM210 is a new medication that is being tested as a treatment for these patients. The treatment has been shown to be safe in healthy volunteers thus far and is progressing through clinical trials and soon to be tested in patients with RYR1-RM.
The aim of this study is to test the strength of muscles in patients with RYR1-RM so that researchers can understand how much these muscles are affected by the disease, and how to measure a consistent result of muscle strength (baseline strength) to inform the design of future clinical trials.
Adult RYR1-RM patients will be invited to take part in this study which will involve up to 4 visits to a specialist treatment centre over a 3 month period to undergo study assessments. This will include muscle strength measurements conducted by trained medical staff, the use of a wearable device to track activity and movements for 1 month during the study and answering questions about symptoms caused by the disease including tiredness and pain. There will be no treatment provided as part of this study.
The results from this study will be used to inform further studies, including the clinical trial to test new treatments for patients with RYR1-RM.
REC name
North West - Preston Research Ethics Committee
REC reference
24/NW/0022
Date of REC Opinion
31 Jan 2024
REC opinion
Favourable Opinion