Disease · MONDO_0100150

RYR1-related myopathy

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. RYR1-related myopathy. Diseases, record MONDO_0100150. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0100150

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: RYR1-related myopathy; Open Targets
Open Targets ID: MONDO_0100150; Open Targets
Other names: neurological muscular channelopathy due to a genetic ryanodine receptor defect; Open Targets
Orphanet: ORPHA:98742; Orphanet
Highest stage of its drugs: Phase 1/2, for 1 of its 2 drugs, from ClinicalTrials.gov; Open Targets

Drugs2

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
ACETYLCYSTEINE	CHEMBL600	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets
SURLORIAN	CHEMBL4594418	Small molecule	Phase 1	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets0

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

None in this release.

Trials2

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT02362425	Antioxidant Therapy in RYR1-Related Congenital Myopathy	Phase 1/2	63	2019-12-24	Neuromuscular Disease	ACETYLCYSTEINE	Its record names the disease	ClinicalTrials.gov
NCT04141670	S 48168 (ARM 210) for the Treatment of RYR1-related Myopathies (RYR1-RM)	Phase 1	7	2024-04-19	RYR-1 Myopathy	SURLORIAN	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials2

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Low Dose Group vs High Dose Group: deaths from any cause	0 of 3	0 of 4	7	NCT04141670	Trial comparisons
Low Dose Group vs High Dose Group: serious adverse events	0 of 3	0 of 4	7	NCT04141670	Trial comparisons

Papers from its trials5

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
40993798	DERIVED	1	PubMed
38318125	DERIVED	1	PubMed
35698232	DERIVED	1	PubMed
31941795	DERIVED	1	PubMed
29970108	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0100150

GET https://conductscience.org/api/diseases/v1/MONDO_0100150/drugs

API reference For AI assistants