Eligibility Module
The Eligibility Module contains detailed information about who can participate in the clinical trial. This includes eligibility criteria, age restrictions, gender requirements, healthy volunteer status, and study population descriptions, helping researchers understand who is eligible to participate in the study.
Eligibility Module path is as follows:
Study -> Protocol Section -> Eligibility Module
Eligibility Module
Ignite Creation Date:
2025-12-24 @ 10:48 PM
Ignite Modification Date:
2025-12-24 @ 10:48 PM
NCT ID:
NCT06791369
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.
Healthy Volunteers:
False
Sex:
ALL
Study:
NCT06791369
Study Brief:
Protocol Section:
NCT06791369