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ORPHA:293888

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

medium confidenceSubtype of disorder

Also known as: ALVC · Arrhythmogenic cardiomyopathy dominant-left variant · Arrhythmogenic cardiomyopathy with left ventricular involvement · Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form

Publications

8

25.8th percentile

Trials

0

Interventional, condition-specific

Researchers

97

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    8 matched papers (8 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

8

8 papers have ever been indexed 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=3967) is 59.

8 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).

8 in the last 10 years · medium confidence · 25.8th percentile (publications denominator)

Phrase hits: 8 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

97

Distinct author names in 8 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.

  1. 01
    Sanz-Sánchez J3 papers · 2020

    Unidad de Valoración del Riesgo de Muerte Súbita Familiar and Unidad de Cardiopatías Familiares, Muerte Súbita y Mecanismos de Enfermedad (CaFaMuSMe), Instituto de Investigación Sanitaria La Fe, Valencia, España.

    Papers in Europe PMC
  2. 02
    Zorio E3 papers · 2020

    Unidad de Valoración del Riesgo de Muerte Súbita Familiar and Unidad de Cardiopatías Familiares, Muerte Súbita y Mecanismos de Enfermedad (CaFaMuSMe), Instituto de Investigación Sanitaria La Fe, Valencia, España.

    Papers in Europe PMC
  3. 03
    Calvillo-Batllés P2 papers · 2020

    Servicio de Radiología, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

    Papers in Europe PMC
  4. 04
    Castells F2 papers · 2020

    Instituto ITACA, Universitat Politècnica de València, Valencia, Spain. Electronic address: fcastells@eln.upv.es.

    Papers in Europe PMC
  5. 05
    Millet J2 papers · 2020

    Instituto ITACA, Universitat Politècnica de València, Valencia, Spain.

    Papers in Europe PMC
  6. 06
    Molina P2 papers · 2019

    Servicio de Patología, Instituto de Medicina Legal y Ciencias Forenses de Valencia, Valencia, España.

    Papers in Europe PMC
  7. 07
    Vives-Gilabert Y2 papers · 2020

    Instituto ITACA, Universitat Politècnica de València, Valencia, Spain.

    Papers in Europe PMC
  8. 08
    Acquaro M1 paper · 2023

    Department of Molecular Medicine, University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  9. 09
    Ambrosini E1 paper · 2025

    Medical Genetics Unit, University Hospital of Parma, 43126 Parma, Italy.

    Papers in Europe PMC
  10. 10
    Baritussio A1 paper · 2022

    Department of Cardiac, Thoracic, Vascular Sciences, and Public Health, University of Padua, Padua, Italy.

    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.

medium 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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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).

Uncertain / not reviewed (4)

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 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant" OR "Arrhythmogenic cardiomyopathy dominant-left variant" OR "Arrhythmogenic cardiomyopathy with left ventricular involvement" OR "Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form" OR "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant" OR "Arrhythmogenic cardiomyopathy dominant-left variant" OR "Arrhythmogenic cardiomyopathy with left ventricular involvement" OR "Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form" OR "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form"

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

Synonyms dropped by stoplist: ALVC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T12:24:04.155Z