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ORPHA:3451

West syndrome

low confidenceDisorder

Also known as: Intellectual disability-hysarrhytmia syndrome

Publications

9,943

Trials

29

Interventional, condition-specific

Researchers

1,169

Distinct authors in sample

Gene link

BRWD3

Limited

Readiness

6/6

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 (6)

IESS · West's syndrome · infantile epileptic spasms syndrome · infantile spasms · infantile spasms syndrome · intellectual disability-hypsarrhythmia 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

    Limited — BRWD3

  2. LiteraturePresent

    9,943 matched papers (5,277 in last 10 years) Source

  3. Phenotype characterisedPresent

    220 HPO annotations (e.g. Hypsarrhythmia; Abnormality of the nervous system; Abnormal skin morphology) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 3 EMA designations (1 FDA orphan-indication approval) — e.g. tricaprilin Source

  6. Interventional trialPresent

    29 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?

Possibly — only limited evidence so far for BRWD3.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

220

Associated phenotypes · MONDO:0018097

  • Hypsarrhythmia
  • Abnormality of the nervous system
  • Abnormal skin morphology
  • Developmental regression
  • Myoclonus

Showing 5 of 220 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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)

4

Designations · 1 with FDA orphan-indication approval

  • FDA tricaprilinInfantile spasms Infantile spasms · 2020-10-27 · Not FDA Approved for Orphan Indication
  • EMA cannabidiolTreatment of West syndrome · 16/10/2017 · PositiveEMA designation
  • EMA tricaprilinTreatment of West syndrome · 11/11/2022 · PositiveEMA designation
  • EMA unknownTreatment of West syndrome · 09/02/2012 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

18

Drugs / clinical candidates · MONDO_0018097

CTD chemicals (MyDisease.info)

17 associated chemicals · 105 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Adrenocorticotropic Hormone · therapeutic
  • adrenocorticotropin zinc · therapeutic
  • Clobazam · therapeutic
  • Clonazepam · therapeutic
  • Cosyntropin · therapeutic
  • Dexamethasone · therapeutic
  • Phenobarbital · therapeutic
  • Prednisone · therapeutic
  • Primidone · therapeutic
  • Valproic Acid · therapeutic
  • Vigabatrin · therapeutic
  • Betamethasone · marker/mechanism

Pathways: Primary bile acid biosynthesis; Pyrimidine metabolism; beta-Alanine metabolism; Pantothenate and CoA biosynthesis; Drug metabolism - other enzymes; Metabolic pathways; Phospholipase D signaling pathway; p53 signaling pathway

MyDisease.info · MONDO:0018097

Literature

Is anyone studying this?

9,943

9,943 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.

9,943 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).

5,277 in the last 10 years · low confidence

Phrase hits: 9,508 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,169

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
    Hussain SA10 papers · 2026

    Division of Pediatric Neurology, Department of Pediatrics, UCLA Mattel Children's Hospital, David Geffen School of Medicine, Los Angeles, California, USA.

    Papers in Europe PMC
  2. 02
    Sahu JK10 papers · 2026

    Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

    Papers in Europe PMC
  3. 03
    Samanta D8 papers · 2026

    University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

    Papers in Europe PMC
  4. 04
    Wang J8 papers · 2026

    Senior Department of Pediatrics, Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC
  5. 05
    Matsuura R7 papers · 2026

    Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.

    Papers in Europe PMC
  6. 06
    Hamano SI6 papers · 2026

    Division of Neurology, Saitama Children's Medical Center, Saitama, Japan; Department for Child Health and Human, Saitama Children's Medical Center, Saitama, Japan.

    Papers in Europe PMC
  7. 07
    Jain P6 papers · 2026

    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children (University of Toronto), Toronto, Ontario, Canada.

    Papers in Europe PMC
  8. 08
    Madaan P6 papers · 2026

    Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

    Papers in Europe PMC
  9. 09
    Shrey DW6 papers · 2026

    Division of Neurology, Orange California & Department of Pediatrics, Children's Hospital of Orange County, UC Irvine, Orange, California, U.S.A.

    Papers in Europe PMC
  10. 10
    Wan L6 papers · 2026

    Department of Pediatrics, The First Medical Center, Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

29

interventional trials for this specific condition

29 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

29 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.9th percentile).

low confidence · 95.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 West 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.

("West syndrome" OR "Intellectual disability-hysarrhytmia syndrome" OR "West's syndrome" OR "infantile epileptic spasms syndrome" OR "infantile spasms" OR "infantile spasms syndrome" OR "intellectual disability-hypsarrhythmia syndrome") OR ("BRWD3" OR "BRWD3 syndrome" OR "BRWD3-related")

Run this search on Europe PMC

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

"West syndrome" OR "Intellectual disability-hysarrhytmia syndrome" OR "West's syndrome" OR "infantile epileptic spasms syndrome" OR "infantile spasms" OR "infantile spasms syndrome" OR "intellectual disability-hypsarrhythmia 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: 29 interventional · 8 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: IESS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "infantile epileptic spasms syndrome" also appears on ORPHA:697160

Ingested 2026-07-26T23:13:14.800Z