The Prevalence of RYR1-related Disease

Launched by KING'S COLLEGE LONDON · Jan 22, 2025

Keywords

ClinConnect Summary

This clinical trial is studying the prevalence of RYR1-related diseases, which are genetic conditions affecting muscle function. These diseases can lead to various problems, including muscle weakness from birth (congenital myopathies) and a serious reaction to anesthesia known as Malignant Hyperthermia (MH). Researchers want to better understand how common these conditions are and which specific types are most frequent. This information will help improve care for those affected and guide future research for treatments.

To participate in the study, individuals must have a confirmed RYR1 mutation and show signs of a related condition. They should also have had a review by a specialist at a designated center in the UK or the Netherlands. Participants will be identified through national health databases, and their information will be analyzed to give a clearer picture of how many people are affected by these disorders. This study, funded by the RYR1-Foundation, aims to gather crucial data that can lead to better support and resources for patients with RYR1-related diseases.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • the presence of (an) unequivocally pathogenic RYR1 mutation(s)
• • clinical features of a recognized RYR1-related disorder (i.e. a congenital myopathy, MH or related phenotypes)
• • at least one specialist review at one of the national expertise centres
• • being resident in one of the participating countries.
• • Criteria for the diagnosis of a congenital myopathy are the presence of suggestive clinical features and supportive muscle biopsy findings, or the presence of supportive histopathological findings in a first degree relative with similar clinical features and the same RYR1 genotype. Criteria for the diagnosis of MH susceptibility are clinical features suggestive of malignant hyperthermia (as defined by a diagnostic Larach score) and/or a positive IVCT/CHCT test, or a relative with a history of MH and the same RYR1 genotype. Exclusion criteria will be a clinical diagnosis of a congenital myopathy or malignant hyperthermia without any of the supportive evidence as outlined above, or not being resident in one of the participating countries.
• Exclusion Criteria:
• • a clinical diagnosis of a congenital myopathy or malignant hyperthermia without any of the supportive evidence as outlined above
• • not being resident in one of the participating countries.