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MinorEligibility criteria expanded, about 20 words
Study description expanded, about 73 words
Site contact updated
Minor3 versionsRe-verified since Dec 3, 2025, no change to tracked fieldsv209-v211
MinorEligibility criteria revisedv208
MinorStudy description expanded, about 245 wordsv207
MinorRe-verified, no change to tracked fieldsv206
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MinorStart date changed from estimate of Mar 18, 2025 to Mar 11, 2025v205
MinorStart date: Mar 17, 2025 to Mar 18, 2025v204
MinorStart date: Mar 16, 2025 to Mar 17, 2025v203
MinorStart date: Mar 13, 2025 to Mar 16, 2025v202
MinorStart date: Mar 12, 2025 to Mar 13, 2025v201
MinorStart date: Mar 11, 2025 to Mar 12, 2025v200
MinorStart date: Mar 10, 2025 to Mar 11, 2025v199
MinorStart date: Mar 9, 2025 to Mar 10, 2025v198
MinorStart date: Mar 6, 2025 to Mar 9, 2025v197
MinorStart date: Mar 5, 2025 to Mar 6, 2025v196
MinorStart date: Mar 4, 2025 to Mar 5, 2025v195
NotableLead sponsor: National Institute of Nursing Research (NINR) to National Institutes of Health Clinical Center (CC)
Start date: Mar 3, 2025 to Mar 4, 2025
v194
MinorStart date: Mar 2, 2025 to Mar 3, 2025v193
MinorStart date: Feb 27, 2025 to Mar 2, 2025v192
MinorStart date: Feb 26, 2025 to Feb 27, 2025v191
MinorStart date: Feb 25, 2025 to Feb 26, 2025v190
MinorStart date: Feb 24, 2025 to Feb 25, 2025v189
MinorStart date: Feb 23, 2025 to Feb 24, 2025v188
NotableTrial status: Not Yet Recruiting to Recruiting
Start date: Feb 20, 2025 to Feb 23, 2025
Site details revised
v187
MinorStart date: Feb 19, 2025 to Feb 20, 2025v186
MinorStart date: Feb 18, 2025 to Feb 19, 2025v185
MinorStart date: Feb 17, 2025 to Feb 18, 2025v184
MinorStart date: Feb 16, 2025 to Feb 17, 2025v183
MinorStart date: Feb 13, 2025 to Feb 16, 2025
Study description expanded, about 6 words
v182
MinorStart date: Feb 12, 2025 to Feb 13, 2025v181
MinorStart date: Feb 11, 2025 to Feb 12, 2025v180
MinorStart date: Feb 10, 2025 to Feb 11, 2025v179
MinorStart date: Feb 9, 2025 to Feb 10, 2025v178
MinorStart date: Feb 6, 2025 to Feb 9, 2025v177
MinorStart date: Feb 5, 2025 to Feb 6, 2025v176
MinorStart date: Feb 4, 2025 to Feb 5, 2025v175
MinorStart date: Feb 3, 2025 to Feb 4, 2025v174
MinorStart date: Feb 2, 2025 to Feb 3, 2025v173
MinorStart date: Jan 30, 2025 to Feb 2, 2025v172
MinorStart date: Jan 29, 2025 to Jan 30, 2025v171
MinorStart date: Jan 28, 2025 to Jan 29, 2025v170
MinorStart date: Jan 27, 2025 to Jan 28, 2025v169
MinorStart date: Jan 22, 2025 to Jan 27, 2025v168
MinorStart date: Jan 21, 2025 to Jan 22, 2025v167
MinorStart date: Jan 20, 2025 to Jan 21, 2025v166
MinorStart date: Jan 19, 2025 to Jan 20, 2025v165
MinorStart date: Jan 16, 2025 to Jan 19, 2025v164
MinorStart date: Jan 15, 2025 to Jan 16, 2025v163
Stopped: an ongoing trial was terminated, suspended or withdrawn.
Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
Minor: routine progress and housekeeping, such as sites added or enrollment closed.
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 activity.
Questionnaires. Participants will answer questions about their health, pain, fatigue, stress, quality of life, and other topics.
Participants who visit the Clinical Center will also undergo:
Tests of heart and lung function.
Motor skills and strength tests. Participants will walk, climb stairs, kneel, crawl, stand up, and perform other movements to test their strength and abilities. They will squeeze and pinch a handheld device to test their grip.
Imaging scans.
Skin biopsy. Adult participants may opt to have a sample of skin taken (one time only).
Eye exam