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ORPHA:130

Brugada syndrome

medium confidenceDisorder

Also known as: Ventricular fibrillation, Brugada type

Publications

13,238

98.1th percentile

Trials

26

Interventional, condition-specific

Researchers

1,171

Distinct authors in sample

Gene link

ABCC9, ANK2, CACNA1C

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Brugada type idiopathic ventricular fibrillation · idiopathic ventricular fibrillation, Brugada type · right bundle branch block, ST segment elevation, and sudden death syndrome · sudden unexplained nocturnal death syndrome

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Moderate — ABCC9, ANK2, CACNA1C, CACNA2D1, CAV3…

  2. LiteraturePresent

    13,238 matched papers (6,785 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    26 matched on ClinicalTrials.gov (6 recruiting in sample)

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?

Probably — there is moderate evidence for ABCC9, ANK2, CACNA1C….

GenCC classification: Moderate.

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?

13,238

13,238 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

13,238 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).

6,785 in the last 10 years · medium confidence · 98.1th percentile (publications denominator)

Phrase hits: 13,238 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,171

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.

  1. 01
    Brugada J9 papers · 2026

    University of Barcelona, Cardiology Department, Hospital Clínic, Barcelona, Spain.

    Papers in Europe PMC
  2. 02
    de Asmundis C6 papers · 2026

    Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, European Reference Networks, Guard-Heart, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium. Electronic address: carlo.deasmundis@uzbrussel.be.

    Papers in Europe PMC
  3. 03
    Pannone L6 papers · 2026

    Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, European Reference Networks, Guard-Heart, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium.

    Papers in Europe PMC
  4. 04
    Brugada P5 papers · 2026

    Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, European Reference Networks, Guard-Heart, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium.

    Papers in Europe PMC
  5. 05
    Conte G5 papers · 2026

    Cardiocentro Ticino Institute, Ente Ospedaliero Cantonale, Faculty of Biomedical Sciences, Università della Svizzera italiana, Lugano, Switzerland.

    Papers in Europe PMC
  6. 06
    Migliore F5 papers · 2026

    Department of Cardiac, Thoracic, and Vascular Sciences and Public Health University of Padova, Padova, Italy. Electronic address: federico.migliore@unipd.it.

    Papers in Europe PMC
  7. 07
    Scarà A5 papers · 2026

    Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy - antscara@libero.it.

    Papers in Europe PMC
  8. 08
    Sciarra L5 papers · 2026

    Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

    Papers in Europe PMC
  9. 09
    Behr ER4 papers · 2026

    Cardiovascular and Genomics Research Institute, St George's, University of London and St George's University Hospitals National Health Service Foundation Trust, London, United Kingdom.

    Papers in Europe PMC
  10. 10
    Belhassen B4 papers · 2026

    Heart Institute, Hadassah Medical Center, Jerusalem and Tel Aviv University, Tel Aviv, Israel.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

26

interventional trials for this specific condition

26 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

Data as of 27 July 2026

26 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.3th percentile).

medium confidence · 95.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

26 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

38 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched 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 2026-07-26

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.

"Brugada syndrome" OR "Ventricular fibrillation, Brugada type" OR "Brugada type idiopathic ventricular fibrillation" OR "idiopathic ventricular fibrillation, Brugada type" OR "right bundle branch block, ST segment elevation, and sudden death syndrome" OR "sudden unexplained nocturnal death syndrome"

Run this search on Europe PMC

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

"Brugada syndrome" OR "Ventricular fibrillation, Brugada type" OR "Brugada type idiopathic ventricular fibrillation" OR "idiopathic ventricular fibrillation, Brugada type" OR "right bundle branch block, ST segment elevation, and sudden death syndrome" OR "sudden unexplained nocturnal death syndrome" OR "ABCC9" OR "ANK2" OR "CACNA1C" OR "CACNA2D1" OR "CAV3" OR "DEPDC5" OR "DLG1" OR "FGF12" OR "KCNE3" OR "KCNE5" OR "KCNH2" OR "KCNJ8" OR "PKP2" OR "RANGRF" OR "RRAD" OR "SCN10A" OR "SCN2B" OR "SCN3B" OR "SLMAP" OR "TMEM168" OR "TRPM4"

Recall-expansion terms: ABCC9, ANK2, CACNA1C, CACNA2D1, CAV3, DEPDC5, DLG1, FGF12, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, RRAD, SCN10A, SCN2B, SCN3B, SLMAP, TMEM168, TRPM4

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: 26 interventional · 38 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:33:15.958Z