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ORPHA:130

Brugada syndrome

medium confidenceDisorder

Also known as: Ventricular fibrillation, Brugada type

Publications

28,270

98.2th percentile

Trials

20

Interventional, condition-specific

Researchers

1,232

Distinct authors in sample

Gene link

ABCC9, ANK2, CACNA1C

Moderate

Readiness

6/6

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.”

6/6 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

    28,270 matched papers (16,939 in last 10 years) Source

  3. Phenotype characterisedPresent

    53 HPO annotations (e.g. Ventricular fibrillation; ST segment elevation; Bundle branch block) Source

  4. Animal modelPresent

    4 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. hydroquinidine hydrochloride Source

  6. Interventional trialPresent

    20 matched on ClinicalTrials.gov (3 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)

53

Associated phenotypes · MONDO:0015263

  • Ventricular fibrillation
  • ST segment elevation
  • Bundle branch block
  • Atrial fibrillation
  • Syncope

Showing 5 of 53 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA hydroquinidine hydrochlorideTreatment of Brugada syndrome · 18/07/2022 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0015263

CTD chemicals (MyDisease.info)

13 associated chemicals · 20 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Dimenhydrinate · therapeutic
  • Ajmaline · marker/mechanism
  • Amiodarone · marker/mechanism
  • Desipramine · marker/mechanism
  • Flecainide · marker/mechanism
  • Fluvoxamine · marker/mechanism
  • Indapamide · marker/mechanism
  • Lidocaine · marker/mechanism
  • Lithium · marker/mechanism
  • Nortriptyline · marker/mechanism
  • Plant Extracts · marker/mechanism
  • Propafenone · marker/mechanism

Pathways: Adrenergic signaling in cardiomyocytes; Breast cancer; Developmental Biology; Signaling by NOTCH; Signal Transduction; Disease; Signaling by NOTCH1; NOTCH1 Intracellular Domain Regulates Transcription

MyDisease.info · MONDO:0015263

Literature

Is anyone studying this?

28,270

28,270 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=3967) is 59.

28,270 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).

16,939 in the last 10 years · medium confidence · 98.2th percentile (publications denominator)

Phrase hits: 13,238 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,232

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 J10 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
    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
  7. 07
    Belhassen B4 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Migliore F4 papers · 2026

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

    Papers in Europe PMC
  9. 09
    Monaco C4 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
  10. 10
    Sarquella-Brugada G4 papers · 2026

    Hospital Sant Joan de Deu, Department of Cardiology, Barcelona, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

20

interventional trials for this specific condition

20 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

20 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.8th percentile).

medium confidence · 94.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

31 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

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 26 · after dedupe 26 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 26 · dropped 0 · fetched 2026-07-29

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 (26)

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 Brugada syndrome — 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.

("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 "ABCC9 syndrome" OR "ABCC9-related" OR "ANK2" OR "ANK2 syndrome" OR "ANK2-related" OR "CACNA1C" OR "CACNA1C syndrome" OR "CACNA1C-related")

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"

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: 20 interventional · 31 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 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