💬In plain words
What the trial is, and whether it could suit you
Background:
Congenital myopathies (CM) are genetic disorders that can cause decreased muscle tone and muscle weakness. Most CMs in the United States are related to the ryanodine receptor 1 (RYR1) gene. Researchers need more natural history data to learn about these CMs in children and adults.
Objective:
To learn more about the signs, symptoms, and course of RYR1-related disorders.
Eligibility:
People aged 7 years and older with an RYR1-related disorder.
Design:
Ambulatory participants will come to the Clinical Center and non-ambulatory participants will visit via telehealth.
Visits will be once a year for 3 or 5 years. Clinical Center visits will take 2 to 3 days.
All participants will undergo tests including:
Photos and videos. These will be taken to document the participant s condition.
Blood and urine tests.
Activity Tracker. Participants will wear a device to record their
Sign in to get the eligibility rules as simple questions to take to your doctor.
📋 Eligibility rules (as published)
* 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
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