Understanding RYR1-related muscle disorders
A Single-Center Prospective Natural History Study of RYR1-Related Disorders
This study is looking to learn more about RYR1-related muscle disorders by tracking the health and progress of participants aged 7 and older over several years.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Ages | 7 Years to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT06287762 on ClinicalTrials.gov |
What this trial studies
This observational study aims to gather comprehensive data on the clinical manifestations and progression of Ryanodine Receptor 1-related disorders (RYR1-RD), which include various congenital myopathies. Participants aged 7 and older will be monitored over a period of 3 to 5 years, with annual visits for assessments that include physical tests, activity tracking, and questionnaires. The study will enhance knowledge about these rare disorders and prepare for future clinical trials by identifying potential biomarkers and disease progression indicators.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 7 years and older with a genetically confirmed RYR1-related disorder.
Not a fit: Patients without a confirmed RYR1-related disorder or those under 7 years old may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of RYR1-related disorders, ultimately benefiting patients through better-targeted therapies.
How similar studies have performed: While this study focuses on a specific genetic disorder, similar observational studies have successfully characterized other rare diseases, suggesting a potential for valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA (CENTRALIZED ARM) 1. Stated willingness to comply with all study procedures, availability for the duration of the study, and submission of medical records to research team prior to screening. 2. Male or female, aged \>=7 years of age. 3. Genetically confirmed RYR1-related disorder, evidenced by pathogenic or likely pathogenic variants identified by CLIA testing (whole genome, exome, targeted, partial or full RYR1 sequencing) OR variant of uncertain significance with supporting clinical phenotype. 4. Agreement to adhere to Lifestyle Considerations throughout study duration. 5. Ability of subject to communicate their understanding of the purpose of the study, and willingness to provide assent and/or to sign a written informed consent document. 6. Resides in the United States. EXCLUSION CRITERIA (CENTRALIZED ARM) 1. Participation in an IND, IDE, or equivalent clinical study in the past six months 2. Severe disability or mobility issues (inability to walk 10 meters with or without assistance) 3. Requires mechanical ventilation or tracheotomy 4. Other neuromuscular diseases resulting in muscle weakness 5. Ongoing medical condition that is deemed by the Principal Investigator to interfere with the conduct or assessments of the study (e.g. active infection) or safety of the subject. INCLUSION CRITERIA (DE-CENTRALIZED ARM) 1. Stated willingness to comply with all study procedures, availability for the duration of the study, and submission of medical records to research team prior to screening. 2. Male or female, aged \> 7 years of age. 3. Genetically confirmed RYR1-related disorder, evidenced by pathogenic or likely pathogenic variants identified by CLIA testing (whole genome, exome, targeted, partial or full RYR1 sequencing) OR variant of uncertain significance with supporting clinical phenotype. 4. Ability of subject to communicate their understanding of the purpose of the study, and willingness to provide assent and/or sign a written informed consent document. 5. Resides in the United States EXCLUSION CRITERIA (DE-CENTRALIZED ARM) 1. Participation in an IND, IDE, or equivalent clinical study in the past six months 2. Other neuromuscular diseases resulting in muscle weakness 3. Ongoing medical condition that is deemed by the Principal Investigator to interfere with the conduct or assessments of the study (e.g. active infection) or safety of the subject
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Tokunbor A Lawal, C.R.N.P. — National Institutes of Health Clinical Center (CC)
- Study coordinator: Irene C Chrismer, R.N.
- Email: irene.chrismer@nih.gov
- Phone: (240) 856-9808
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.