Ryanodine Receptor 1-Related MyopathyNCT06287762
A Natural History Study of RYR1-Related Disorders
An observational study of Ryanodine Receptor 1-Related Myopathy and Ryanodine Receptor 1 Related Disorders, run by National Institutes of Health Clinical Center (CC) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 7 to 100 years
- Conditions the study is for
- Ryanodine Receptor 1-Related Myopathy, Ryanodine Receptor 1 Related Disorders
- How many people
- 150 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Mar 2025to 30 Dec 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: A total of 150 clinically stable adults and children (7 years of age or older) with genetically confirmed RYR1-RD.
Who may be able to join
- 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.
- Male or female, aged >=7 years of age.
- 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.
- Agreement to adhere to Lifestyle Considerations throughout study duration.
- 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.
- Resides in the United States.
Show all 11Show fewer
- 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.
- Male or female, aged > 7 years of age.
- 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.
- 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.
- Resides in the United States
Who cannot join
- Participation in an IND, IDE, or equivalent clinical study in the past six months
- Severe disability or mobility issues (inability to walk 10 meters with or without assistance)
- Requires mechanical ventilation or tracheotomy
- Other neuromuscular diseases resulting in muscle weakness
- 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.
- Participation in an IND, IDE, or equivalent clinical study in the past six months
- Other neuromuscular diseases resulting in muscle weakness
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
Irene Chrismer, 240-856-9808, irene.chrismer@nih.gov
NIH Clinical Center Office of Patient Recruitment (OPR), (800) 411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: A Single-Center Prospective Natural History Study of RYR1-Related Disorders
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.
Read more
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
Read the detailed description
STUDY DESCRIPTION:
This prospective natural history study seeks to characterize the clinical manifestations and course of Ryanodine Receptor 1 -related disorders (RYR1-RD). RYR1-RD include a wide range of rare congenital and adult-onset neuromuscular phenotypes that are typically slowly progressive. The study is observational and comprises a primary data collection phase (Years 1-3) and extended follow-up phase (Years 4-5), stratified into centralized (ambulatory) and decentralized (non-ambulatory) arms. During each phase, there will be one visit per year. The study will enhance the foundational knowledge of RYR1-RD and support clinical trial readiness.
OBJECTIVE:
Primary:
Characterize phenotype and disease course over a three-year period
Secondary:
Characterize phenotype and disease course over an extended (2-year) period (total 5 years)
Exploratory:
- Investigate potential biomarkers of disease status and progression
- Explore clinical meaningfulness thresholds for research assessments
- Extract common data elements from existing medical records (real-world evidence) ENDPOINTS: Primary: Change from baseline to Year 3 in: Motor function and performance
- Motor Function Measure (MFM) sub-domains (percent of maximum score)
- Six-minute walk test (meters travelled with percent predicted)
- Timed functional tests (ascend four stairs, descend four stairs, supine to stand) (seconds)
- Grip and pinch strength (kg and percent predicted)
- Performance of Upper Limb (PUL)
- Accelerometry (wearable sensor)
- Quantitative muscle assessment
- Brooke and Vignos assessment Pulmonary function
- Forced vital capacity (percent reference norm)
- Forced expiratory volume at 1 second (percent reference norm)
- Slow vital capacity (Liters)
- Maximal voluntary ventilation (Liters)
- Maximum inspiratory pressure (MIP)
- Maximum expiratory pressure (MEP) Patient-reported outcomes
- PROMIS-57 Profile (subscale and overall t-scores); adults - depression, anxiety, physical function, pain interference, fatigue, sleep disturbance, and satisfaction with participation in social roles
- PROMIS Ped-25 Profile (subscale and overall t-scores); 8 - 17 y
- PROMIS Parent Proxy 25 Profile - Fatigue, physical stress experiences, positive affect and wellbeing, psychological stress experiences, anxiety/fear, physical function, pain; 5 - 7 y
- PROMIS Upper Extremity - Short Form 7a
- PROMIS Pediatric Upper Extremity - Short Form 8a
- PROMIS Parent Proxy Upper Extremity - Short Form 8a
- Physical Activity Questionnaire for Children (PAQ-C); 8 - 13 y
- Physical Activity Questionnaire for Adolescents (PAQ-A); 14 - 17 y
- International physical activity questionnaire (IPAQ); adults Ophthalmology
- Visual acuity
- Dilated ophthalmology exam at baseline only
- Extraocular motility assessment
- Marginal reflex distance (Ptosis)
- Optical Coherence Tomography
- Ancillary testing, imaging, and repeat dilated exams as indicated, based on assessment and discretion of clinician Secondary: Change from baseline to Year 5 in: Motor function and performance
- Motor Function Measure (MFM) sub-domains (percent of maximum score)
- Six-minute walk test (meters travelled with percent predicted)
- Timed functional tests (ascend four stairs, descend four stairs, supine to stand) (seconds)
- Grip and pinch strength (kg and percent predicted)
- Performance of Upper Limb (PUL)
- Accelerometry (wearable sensor)
- Quantitative muscle assessment
- Brooke and Vignos assessment Pulmonary function
- Forced vital capacity (percent reference norm)
- Forced expiratory volume at 1 second (percent reference norm)
- Slow vital capacity (Liters)
- Maximal voluntary ventilation (Liters)
- Maximum inspiratory pressure (MIP)
- Maximum expiratory pressure (MEP) Patient-reported outcomes
- PROMIS-57 Profile (subscale and overall t-scores); adults - depression, anxiety, physical function, pain interference, fatigue, sleep disturbance, and satisfaction with participation in social roles
- PROMIS Ped-25 Profile (subscale and overall t-scores); 8 - 17 y
- PROMIS Parent Proxy -25 Profile Fatigue, physical stress experiences, positive affect and wellbeing, psychological stress experiences, anxiety/fear, physical function, pain; 5 - 7 y
- PROMIS Upper Extremity - Short Form 7a
- PROMIS Pediatric Upper Extremity - Short Form 8a
- PROMIS Parent Proxy Upper Extremity - Short Form 8a
- Physical Activity Questionnaire for Children (PAQ-C); 8 - 13 y
- Physical Activity Questionnaire for Adolescents (PAQ-A); 14 - 17 y
- International physical activity questionnaire (IPAQ); adults Ophthalmology
- Visual acuity
- Dilated ophthalmology exam at baseline only
- Extraocular motility assessment
- Marginal reflex distance (Ptosis)
- Optical Coherence Tomography
- Ancillary testing, imaging, and repeat dilated exams as indicated, based on assessment and discretion of clinician Exploratory: Biomarkers Including but not limited to:
- Plasma NAD plus, NADH
- Plasma GSH, GSSG
- Plasma cytokines
- Serum creatine phosphokinase
- Urine and plasma 15-F2t isoprostane
- Urine 8OHdG
- PBMC (Peripheral Blood Mononuclear Cell)
- Near infrared spectroscopy (muscle tissue oxygenation)
- Dixon MRI of lower extremity
- Optional skin punch biopsy (fibroblast culture)
- Muscle ultrasound
- Electrical impedance myography (EIM)
- Keywords
- RYR1, Muscle Disease, Natural History, Congenital Myopathy
- Medical subject headings
- Muscular Diseases, Myotonia Congenita
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Centralized | Visits are conducted at the NIH clinical center. All participants are ambulatory. | |
| Decentralized | Visits are conducted via telehealth. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Adverse and disease-related events
Serious (21CFR312.32) adverse events:- Narrative description (clinician)- Causality assessment (related or unrelated to disease)- CTCAE system organ class- CTCAE lower-level term- Falls questionnaire; adults
Measured: 3 years
Medical data review
- Demographics- Developmental history- Medical history- Social determinants of health (environmental conditions such as economic stability, health care and education access and quality, neighborhood and built environment, and social and community context.- Full physical exam- Review of genetic diagnostic report/results- Prior medical records
Measured: 3 years
Ophthalmology
- Marginal reflex distance (Ptosis)- Binocular horizontal visual field test- Optical Coherence Tomography- Goldmann Perimetry Degrees: lateral rectus, superior rectus, inferior oblique, medial rectus, superior oblique, inferior rectus
Measured: 3 years
Patient-reported outcomes
- PROMIS-57 Profile (subscale and overall t-scores); adults - depression, anxiety, physical function, pain interference, fatigue, sleep disturbance, and satisfaction with participation in social roles- PROMIS Ped-25 Profile (subscale and overall t-scores); 8 - 17 y- PROMIS Parent Proxy 25 Profile - Fatigue, physical stress experiences, positive affect and wellbeing, psychological stress experiences, anxiety/fear, physical function, pain; 5 - 7 y- PROMIS Upper Extremity - Short Form 7a- PROMIS Pediatric Upper Extremity - Short Form 8a- PROMIS Parent Proxy Upper Extremity - Short Form 8a- Physical Activity Questionnaire for Children (PAQ-C); 8 - 13 y- Physical Activity Questionnaire for Adolescents (PAQ-A); 14 - 17 y- International physical activity questionnaire (IPAQ); adults
Measured: 3 years
Pulmonary function
- Forced vital capacity (% reference norm)- Forced expiratory volume at 1 second (% reference norm) - Slow vital capacity (Liters)- Maximal voluntary ventilation (Liters)- Maximum inspiratory pressure (MIP)- Maximum expiratory pressure (MEP)
Measured: 3 years
Motor function and performance
- Motor Function Measure (MFM) sub-domains (percent of maximum score)- Six-minute walk test (meters travelled with percent predicted)- Timed functional tests (ascend four stairs, descend four stairs, supine to stand) (seconds)- Grip and pinch strength (kg and percent predicted)- Performance of Upper Limb (PUL)- Accelerometry (wearable sensor)- Quantitative muscle assessment- Brooke and Vignos assessment
Measured: 3 years
Secondary outcomes (1)
Characterize phenotype and disease course over an extended (2-year) period (total 5 years).Collect exploratory biomarker data.
(1) Investigate potential biomarkers of disease status and progression(2) Explore clinical meaningfulness thresholds for research assessments(3) Extract common data elements from existing medical records (real-world evidence)
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Mar 2024
- Study start11 Mar 2025
- Primary completion30 Apr 2031 (estimated)
- Study completion30 Dec 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ryanodine Receptor 1-Related MyopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Institutes of Health Clinical Center (CC)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Tokunbor A Lawal, C.R.N.P., Principal investigator, National Institutes of Health Clinical Center (CC)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06287762
- Sponsor's protocol ID
- 10001737
- Other IDs
- 001737-CC
- Status last verified
- 13 Oct 2026
- First submitted
- 29 Feb 2024
- Last updated
- 15 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Single-Center Prospective Natural History Study of RYR1-Related Disorders
- ClinicalTrials.gov ID
- NCT06287762
- Acronym / sponsor ID
- 10001737
- Keywords
- RYR1, Muscle Disease, Natural History, Congenital Myopathy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- National Institutes of Health Clinical Center (CC)US National Institutes of Health
- Study start
- 11 Mar 2025 (actual)
- Primary completion
- 30 Apr 2031 (estimated)
- Study completion
- 30 Dec 2031 (estimated)
- First posted
- 1 Mar 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed description
STUDY DESCRIPTION:
This prospective natural history study seeks to characterize the clinical manifestations and course of Ryanodine Receptor 1 -related disorders (RYR1-RD). RYR1-RD include a wide range of rare congenital and adult-onset neuromuscular phenotypes that are typically slowly progressive. The study is observational and comprises a primary data collection phase (Years 1-3) and extended follow-up phase (Years 4-5), stratified into centralized (ambulatory) and decentralized (non-ambulatory) arms. During each phase, there will be one visit per year. The study will enhance the foundational knowledge of RYR1-RD and support clinical trial readiness.
OBJECTIVE:
Primary:
Characterize phenotype and disease course over a three-year period
Secondary:
Characterize phenotype and disease course over an extended (2-year) period (total 5 years)
Exploratory:
- Investigate potential biomarkers of disease status and progression
- Explore clinical meaningfulness thresholds for research assessments
- Extract common data elements from existing medical records (real-world evidence) ENDPOINTS: Primary: Change from baseline to Year 3 in: Motor function and performance
- Motor Function Measure (MFM) sub-domains (percent of maximum score)
- Six-minute walk test (meters travelled with percent predicted)
- Timed functional tests (ascend four stairs, descend four stairs, supine to stand) (seconds)
- Grip and pinch strength (kg and percent predicted)
- Performance of Upper Limb (PUL)
- Accelerometry (wearable sensor)
- Quantitative muscle assessment
- Brooke and Vignos assessment Pulmonary function
- Forced vital capacity (percent reference norm)
- Forced expiratory volume at 1 second (percent reference norm)
- Slow vital capacity (Liters)
- Maximal voluntary ventilation (Liters)
- Maximum inspiratory pressure (MIP)
- Maximum expiratory pressure (MEP) Patient-reported outcomes
- PROMIS-57 Profile (subscale and overall t-scores); adults - depression, anxiety, physical function, pain interference, fatigue, sleep disturbance, and satisfaction with participation in social roles
- PROMIS Ped-25 Profile (subscale and overall t-scores); 8 - 17 y
- PROMIS Parent Proxy 25 Profile - Fatigue, physical stress experiences, positive affect and wellbeing, psychological stress experiences, anxiety/fear, physical function, pain; 5 - 7 y
- PROMIS Upper Extremity - Short Form 7a
- PROMIS Pediatric Upper Extremity - Short Form 8a
- PROMIS Parent Proxy Upper Extremity - Short Form 8a
- Physical Activity Questionnaire for Children (PAQ-C); 8 - 13 y
- Physical Activity Questionnaire for Adolescents (PAQ-A); 14 - 17 y
- International physical activity questionnaire (IPAQ); adults Ophthalmology
- Visual acuity
- Dilated ophthalmology exam at baseline only
- Extraocular motility assessment
- Marginal reflex distance (Ptosis)
- Optical Coherence Tomography
- Ancillary testing, imaging, and repeat dilated exams as indicated, based on assessment and discretion of clinician Secondary: Change from baseline to Year 5 in: Motor function and performance
- Motor Function Measure (MFM) sub-domains (percent of maximum score)
- Six-minute walk test (meters travelled with percent predicted)
- Timed functional tests (ascend four stairs, descend four stairs, supine to stand) (seconds)
- Grip and pinch strength (kg and percent predicted)
- Performance of Upper Limb (PUL)
- Accelerometry (wearable sensor)
- Quantitative muscle assessment
- Brooke and Vignos assessment Pulmonary function
- Forced vital capacity (percent reference norm)
- Forced expiratory volume at 1 second (percent reference norm)
- Slow vital capacity (Liters)
- Maximal voluntary ventilation (Liters)
- Maximum inspiratory pressure (MIP)
- Maximum expiratory pressure (MEP) Patient-reported outcomes
- PROMIS-57 Profile (subscale and overall t-scores); adults - depression, anxiety, physical function, pain interference, fatigue, sleep disturbance, and satisfaction with participation in social roles
- PROMIS Ped-25 Profile (subscale and overall t-scores); 8 - 17 y
- PROMIS Parent Proxy -25 Profile Fatigue, physical stress experiences, positive affect and wellbeing, psychological stress experiences, anxiety/fear, physical function, pain; 5 - 7 y
- PROMIS Upper Extremity - Short Form 7a
- PROMIS Pediatric Upper Extremity - Short Form 8a
- PROMIS Parent Proxy Upper Extremity - Short Form 8a
- Physical Activity Questionnaire for Children (PAQ-C); 8 - 13 y
- Physical Activity Questionnaire for Adolescents (PAQ-A); 14 - 17 y
- International physical activity questionnaire (IPAQ); adults Ophthalmology
- Visual acuity
- Dilated ophthalmology exam at baseline only
- Extraocular motility assessment
- Marginal reflex distance (Ptosis)
- Optical Coherence Tomography
- Ancillary testing, imaging, and repeat dilated exams as indicated, based on assessment and discretion of clinician Exploratory: Biomarkers Including but not limited to:
- Plasma NAD plus, NADH
- Plasma GSH, GSSG
- Plasma cytokines
- Serum creatine phosphokinase
- Urine and plasma 15-F2t isoprostane
- Urine 8OHdG
- PBMC (Peripheral Blood Mononuclear Cell)
- Near infrared spectroscopy (muscle tissue oxygenation)
- Dixon MRI of lower extremity
- Optional skin punch biopsy (fibroblast culture)
- Muscle ultrasound
- Electrical impedance myography (EIM)
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Centralized | – | –Visits are conducted at the NIH clinical center. All participants are ambulatory. |
| Decentralized | – | –Visits are conducted via telehealth. |
Who may qualify
- Ages
- 7 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- A total of 150 clinically stable adults and children (7 years of age or older) with genetically confirmed RYR1-RD.
Key inclusion criteria (11 listed)
- 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.
- Male or female, aged > 7 years of age.
- 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.
- 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.
- Resides in the United States
Key exclusion criteria (8 listed)
- Participation in an IND, IDE, or equivalent clinical study in the past six months
- Severe disability or mobility issues (inability to walk 10 meters with or without assistance)
- Requires mechanical ventilation or tracheotomy
- Other neuromuscular diseases resulting in muscle weakness
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Adverse and disease-related events
Time frame: 3 years
Serious (21CFR312.32) adverse events:- Narrative description (clinician)- Causality assessment (related or unrelated to disease)- CTCAE system organ class- CTCAE lower-level term- Falls questionnaire; adults
Medical data review
Time frame: 3 years
- Demographics- Developmental history- Medical history- Social determinants of health (environmental conditions such as economic stability, health care and education access and quality, neighborhood and built environment, and social and community context.- Full physical exam- Review of genetic diagnostic report/results- Prior medical records
Ophthalmology
Time frame: 3 years
- Marginal reflex distance (Ptosis)- Binocular horizontal visual field test- Optical Coherence Tomography- Goldmann Perimetry Degrees: lateral rectus, superior rectus, inferior oblique, medial rectus, superior oblique, inferior rectus
Patient-reported outcomes
Time frame: 3 years
- PROMIS-57 Profile (subscale and overall t-scores); adults - depression, anxiety, physical function, pain interference, fatigue, sleep disturbance, and satisfaction with participation in social roles- PROMIS Ped-25 Profile (subscale and overall t-scores); 8 - 17 y- PROMIS Parent Proxy 25 Profile - Fatigue, physical stress experiences, positive affect and wellbeing, psychological stress experiences, anxiety/fear, physical function, pain; 5 - 7 y- PROMIS Upper Extremity - Short Form 7a- PROMIS Pediatric Upper Extremity - Short Form 8a- PROMIS Parent Proxy Upper Extremity - Short Form 8a- Physical Activity Questionnaire for Children (PAQ-C); 8 - 13 y- Physical Activity Questionnaire for Adolescents (PAQ-A); 14 - 17 y- International physical activity questionnaire (IPAQ); adults
Pulmonary function
Time frame: 3 years
- Forced vital capacity (% reference norm)- Forced expiratory volume at 1 second (% reference norm) - Slow vital capacity (Liters)- Maximal voluntary ventilation (Liters)- Maximum inspiratory pressure (MIP)- Maximum expiratory pressure (MEP)
Motor function and performance
Time frame: 3 years
- Motor Function Measure (MFM) sub-domains (percent of maximum score)- Six-minute walk test (meters travelled with percent predicted)- Timed functional tests (ascend four stairs, descend four stairs, supine to stand) (seconds)- Grip and pinch strength (kg and percent predicted)- Performance of Upper Limb (PUL)- Accelerometry (wearable sensor)- Quantitative muscle assessment- Brooke and Vignos assessment
1 secondary outcome
Characterize phenotype and disease course over an extended (2-year) period (total 5 years).Collect exploratory biomarker data.
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
Related trials for Ryanodine Receptor 1-Related Myopathy
Not yet recruitingObservational study
The Prevalence of RYR1-related Disease
Neuromuscular Disease, Malignant Hyperthermia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Tokunbor A Lawal, C.R.N.P. principal investigator
National Institutes of Health Clinical Center (CC)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Ryanodine Receptor 1-Related Myopathy and Ryanodine Receptor 1 Related Disorders, run by National Institutes of Health Clinical Center (CC) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Irene C Chrismer, R.N. ((240) 856-9808, irene.chrismer@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Adverse and disease-related events (time frame: 3 years). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Oct 2026.