ORPHA:730631
CASQ2-related catecholaminergic polymorphic ventricular tachycardia
Also known as: CASQ2-related CPVT · CASQ2-related malignant paroxysmal ventricular tachycardia · CASQ2-related polymorphic ventricular tachycardia induced by catecholamines · CASQ2-related bidirectional ventricular tachycardia induced by catecholamine · CPVT2
Publications
2,682
Trials
0
Interventional, condition-specific
Researchers
1,068
Distinct authors in sample
Gene link
—
Readiness
1/6
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,682 matched papers (1,737 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2,682
2,682 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,682 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1,737 in the last 10 years · low confidence
Phrase hits: 208 · MeSH hits: 0
Who's working on it?
1,068
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Ackerman MJ11 papers · 2022
Departments of Cardiovascular Medicine, Pediatric and Adolescent Medicine, and Molecular Pharmacology & Experimental Therapeutics; Divisions of Heart Rhythm Services and Pediatric Cardiology; Windland Smith Rice Genetic Heart Rhythm Clinic and Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic Rochester MN USA.
Papers in Europe PMC - 02Arad M10 papers · 2019
Heart Failure Institute and Leviev Heart Center, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Papers in Europe PMC - 03Antzelevitch C8 papers · 2011
Masonic Medical Research Laboratory, 2150 Bleecker Street, Utica, NY 13501, USA.
Papers in Europe PMC - 04Eldar M8 papers · 2017
Leviev Heart Center, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Papers in Europe PMC - 05Hochhauser E7 papers · 2019
Cardiac Research Lab, Felsenstein Medical Research Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Papers in Europe PMC - 06Priori SG7 papers · 2023
Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri, Via Maugeri 10/10A, Pavia, Italy. silvia.priori@fsm.it
Papers in Europe PMC - 07Binah O6 papers · 2020
Department of Physiology, Biophysics and Systems Biology, Technion, Haifa, Israel.
Papers in Europe PMC - 08Knollmann BC6 papers · 2022
Department of Medicine, Division of Clinical Pharmacology, Vanderbilt University Medical School, Nashville, TN 37232-0575, USA. bjorn.knollmann@vanderbilt.edu
Papers in Europe PMC - 09Napolitano C6 papers · 2025
Molecular Cardiology, Istituti Clinici Scientifici Maugeri, IRCCS Pavia Italy.
Papers in Europe PMC - 10Behr ER5 papers · 2025
Cardiovascular Clinical Academic Group, Institute of Molecular and Clinical Sciences, St. George's University of London; St. George's University Hospitals NHS Foundation Trust London UKMayo Clinic HealthcareLondon.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for CASQ2-related catecholaminergic polymorphic ventricular tachycardia — check Associations / patient organisations on that page.
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.
("CASQ2-related catecholaminergic polymorphic ventricular tachycardia" OR "CASQ2-related CPVT" OR "CASQ2-related malignant paroxysmal ventricular tachycardia" OR "CASQ2-related polymorphic ventricular tachycardia induced by catecholamines" OR "CASQ2-related bidirectional ventricular tachycardia induced by catecholamine" OR "CPVT2") OR ("CASQ2" OR "CASQ2 syndrome" OR "CASQ2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CASQ2-related catecholaminergic polymorphic ventricular tachycardia" OR "CASQ2-related CPVT" OR "CASQ2-related malignant paroxysmal ventricular tachycardia" OR "CASQ2-related polymorphic ventricular tachycardia induced by catecholamines" OR "CASQ2-related bidirectional ventricular tachycardia induced by catecholamine" OR "CPVT2"
Study-type breakdown: 0 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 2026-07-27T21:36:48.709Z