Evidence map›Paper›PMID 40993798›Full record

Trial reportOrphanet journal of rare diseases2025

Exercise capacity in RYR1-related myopathies.

Lisa M K Chin, Joshua J Todd, Irene C Chrismer, Jessica W Witherspoon, Minal Jain, Melissa Waite, Katherine G Meilleur, Bart Drinkard, Tokunbor A Lawal

Registry-linked trialAbstract readRandomized Controlled Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02362425 (Antioxidant Therapy in RYR1-Related Congenital Myopathy), which is not on this map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT02362425 phase1 / phase2completednot on this map

Antioxidant Therapy in RYR1-Related Congenital Myopathy

TypeinterventionalSponsorNational Institute of Nursing Research (NINR)Ran2015 to 2018Enrolled63ConditionsNeuromuscular DiseaseArmsN-acetylcysteine, Placebo
3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Lisa M K ChinRehabilitation Medicine Department, National Institutes of Health (NIH) Clinical Center, Bethesda, Maryland, USA.
Joshua J ToddNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
Irene C ChrismerSkeletal Myopathies Unit, Translational Biobehavioral and Health Promotion Branch, NIH Clinical Center, Bethesda, Maryland, USA.
Jessica W WitherspoonNational Institute of Nursing Research, NIH, Bethesda, Maryland, USA.
Minal JainRehabilitation Medicine Department, National Institutes of Health (NIH) Clinical Center, Bethesda, Maryland, USA.
Melissa WaiteRehabilitation Medicine Department, National Institutes of Health (NIH) Clinical Center, Bethesda, Maryland, USA.
Katherine G MeilleurNational Institute of Nursing Research, NIH, Bethesda, Maryland, USA.
Bart DrinkardRehabilitation Medicine Department, National Institutes of Health (NIH) Clinical Center, Bethesda, Maryland, USA.
Tokunbor A LawalSkeletal Myopathies Unit, Translational Biobehavioral and Health Promotion Branch, NIH Clinical Center, Bethesda, Maryland, USA. Tokunbor.lawal@nih.gov.ORCID 0000-0002-3007-820X

Funding

National Institute of Nursing Research, National Institute of Neurological Disorders and Stroke INTRAMURAL
6 · The paper itself

Abstract

backgroundPathogenic variations affecting the ryanodine receptor 1 (RYR1) gene may result in a variety of neuromuscular disorders, collectively known as RYR1-related myopathies. Considered the most common form of congenital myopathy, individuals with RYR1-related myopathies may experience skeletal muscle weakness and fatigue, as well as reduced functional capacity. This study examined the exercise capacity in individuals with RYR1-related myopathies during a cardiopulmonary exercise test.

methodsAmbulatory individuals (32 adults, 16 children) with genetically confirmed RYR1-related myopathies performed exercise testing on a cycle ergometer and a six-minute walk test at baseline and month six (pre-intervention phase) of a randomized controlled trial (NCT02362425). Outcomes at peak exercise were compared to expected values among the adult and pediatric populations, while longitudinal changes were assessed after six months. Correlations between peak exercise outcomes and the six-minute walk test distance were also examined.

resultsThe peak outcomes of oxygen uptake, work rate and heart rate at baseline were lower (all p < 0.001) than expected in both adults and children. Peak oxygen uptake expressed as percent predicted was 62 ± 20% and 49 ± 24% in adults and children, respectively. No changes were observed across six months for peak exercise outcomes in either group. A moderately strong positive correlation was observed for peak work rate and six-minute walk test distance among adults (r

conclusionExercise capacity is diminished in adults and children with RYR1-related myopathies yet remains stable over six months. The six-minute walk test distance had a direct relationship to peak exercise work rate in adults and children. Exercise capacity testing may be informative for individualizing exercise regimens for persons with RYR1-related myopathies. This study was registered with www. CLINICALTRIALS: gov (NCT02362425) on February 12, 2015.

Indexed as

ExerciseExercise ToleranceMuscular DiseasesRyanodine Receptor Calcium Release ChannelAdolescentAdultChildExercise TestFemaleHumansMaleMiddle AgedYoung AdultRyanodine Receptor Calcium Release ChannelRYR1 protein, humanExercise testMuscular diseasesOxygen consumptionWalk test

Identifiers

PMID40993798
PMCPMC12461967

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.