ORPHA:730618
RYR2-related catecholaminergic polymorphic ventricular tachycardia
Also known as: RYR2-related CPVT · RYR2-related malignant paroxysmal ventricular tachycardia · RYR2-related polymorphic ventricular tachycardia induced by catecholamines · CPVT1 · RYR2-related bidirectional ventricular tachycardia induced by catecholamine
Publications
285
Trials
1
Interventional, condition-specific
Researchers
1,089
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
285 matched papers (181 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
285
285 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
285 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
181 in the last 10 years · low confidence
Phrase hits: 285 · MeSH hits: 0
Who's working on it?
1,089
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Ackerman MJ21 papers · 2026
Long QT Syndrome Clinic, Genomics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA. ackerman.michael@mayo.edu
Papers in Europe PMC - 02Tester DJ14 papers · 2026
Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, Rochester, Minnesota 55901, USA.
Papers in Europe PMC - 03Morad M10 papers · 2025
Cardiac Signaling Center of University of South Carolina, Medical University of South Carolina and Clemson University, 68 President Street, Bioengineering building Rm 306, Charleston, SC 29425, USA.
Papers in Europe PMC - 04Zhang XH8 papers · 2025
Cardiac Signaling Center of University of South Carolina, Medical University of South Carolina and Clemson University, 68 President Street, Bioengineering building Rm 306, Charleston, SC 29425, USA.
Papers in Europe PMC - 05Arad M5 papers · 2019
Leviev Heart Center, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: michael.arad@sheba.health.gov.il.
Papers in Europe PMC - 06Giudicessi JR5 papers · 2026
Mayo Medical School and Mayo Graduate School, Mayo Clinic, Rochester, Minnesota 55905, USA.
Papers in Europe PMC - 07Lai FA5 papers · 2026
Department of Cardiology, Wales Heart Research Institute, Cardiff University School of Medicine, Cardiff CF14 4XN, Wales.
Papers in Europe PMC - 08Roston TM5 papers · 2025
British Columbia Children's Hospital Heart Center, 1F9-4480 Oak St., Vancouver, BC V6H 3V4, Canada.
Papers in Europe PMC - 09Sanatani S5 papers · 2023
Division of Cardiology, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.
Papers in Europe PMC - 10Sjaastad I5 papers · 2021
Institute for Experimental Medical Research, Oslo University Hospital and University of Oslo, Oslo, Norway; KG Jebsen Cardiac Research Center and Center for Heart Failure Research, University of Oslo, Oslo, Norway.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"RYR2-related catecholaminergic polymorphic ventricular tachycardia" OR "RYR2-related CPVT" OR "RYR2-related malignant paroxysmal ventricular tachycardia" OR "RYR2-related polymorphic ventricular tachycardia induced by catecholamines" OR "CPVT1" OR "RYR2-related bidirectional ventricular tachycardia induced by catecholamine"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"RYR2-related catecholaminergic polymorphic ventricular tachycardia" OR "RYR2-related CPVT" OR "RYR2-related malignant paroxysmal ventricular tachycardia" OR "RYR2-related polymorphic ventricular tachycardia induced by catecholamines" OR "CPVT1" OR "RYR2-related bidirectional ventricular tachycardia induced by catecholamine"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T21:36:32.407Z