Understanding RYR1-related muscle disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.