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ORPHA:906

Wiskott-Aldrich syndrome

medium confidenceDisorder

Also known as: Eczema-thrombocytopenia-immunodeficiency syndrome · WAS

Publications

12,751,838

100th percentile

Trials

26

Interventional, condition-specific

Researchers

1,488

Distinct authors in sample

Gene link

WAS

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Wiskott Aldrich syndrome · Wiskott-Aldrich syndrome 1 · Wiskott-Aldrich syndrome, X-linked recessive · eczema-thrombocytopenia-immunodeficiency syndrome · immunodeficiency 2

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

    Definitive — WAS

  2. LiteraturePresent

    12,751,838 matched papers (7,213,523 in last 10 years) Source

  3. Phenotype characterisedPresent

    135 HPO annotations (e.g. Abnormality of the menstrual cycle; Gingival bleeding; Sinusitis) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPartial

    4 EMA designations (none yet with FDA orphan-indication approval) — e.g. autologous CD34+ cells edited with a CRISPR/Cas9 system and transduced with an adeno-associated vector containing a codon-optimized version of WAS gene Source

  6. Interventional trialPresent

    26 matched on ClinicalTrials.gov (1 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?

Yes — we know a specific gene responsible (WAS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

135

Associated phenotypes · MONDO:0010518

  • Abnormality of the menstrual cycle
  • Gingival bleeding
  • Sinusitis
  • Chronic otitis media
  • Epistaxis

Showing 5 of 135 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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 · no FDA orphan-indication approval yet

  • EMA autologous CD34+ cells edited with a CRISPR/Cas9 system and transduced with an adeno-associated vector containing a codon-optimized version of WAS geneTreatment of Wiskott-Aldrich syndrome · 21/08/2024 · PositiveEMA designation
  • EMA autologous CD34+ cells transfected with lentiviral vector containing the Wiskott-Aldrich syndrome protein gene (etuvetidigene autotemcel) (Waskyra)Treatment of Wiskott-Aldrich syndrome · 06/06/2012 · PositiveEMA designation
  • EMA Lentiviral vector containing the human Wiskott Aldrich Syndrome Protein geneTreatment of Wiskott-Aldrich syndrome · 24/01/2006 · WithdrawnEMA designation
  • EMA autologous CD34+ cells transfected with lentiviral vector containing the Wiskott-Aldrich syndrome protein gene (etuvetidigene autotemcel)Treatment of Wiskott-Aldrich syndrome · 07/10/2013 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

16

Drugs / clinical candidates · MONDO_0010518

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

12,751,838

12,751,838 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.

12,751,838 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).

7,213,523 in the last 10 years · medium confidence · 100th percentile (publications denominator)

Phrase hits: 14,760 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,488

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
    Notarangelo LD7 papers · 2026

    Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  2. 02
    Pai SY6 papers · 2026

    National Cancer Institute.

    Papers in Europe PMC
  3. 03
    Shcherbina A6 papers · 2026

    Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.

    Papers in Europe PMC
  4. 04
    Aiuti A5 papers · 2025

    Pediatric Immunohematology and Stem Cell Program, San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Chandrakasan S5 papers · 2026

    Bone Marrow Transplant Program, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA.

    Papers in Europe PMC
  6. 06
    Liu Y5 papers · 2026

    Guanganmen Hospital, China Academy of Chinese Medical Sciences, Beijing, China.

    Papers in Europe PMC
  7. 07
    Rakshit S5 papers · 2025

    Department of Biotechnology, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu, 603203, India.

    Papers in Europe PMC
  8. 08
    Rawat A5 papers · 2026

    Allergy Immunology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

    Papers in Europe PMC
  9. 09
    Sarkar K5 papers · 2025

    Department of Biotechnology, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu, 603203, India. koustavsarkar@gmail.com.

    Papers in Europe PMC
  10. 10
    Shanmugam G5 papers · 2025

    Department of Biotechnology, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu, 603203, India.

    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; 1 currently recruiting in our sample.

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

26 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.6th percentile).

medium confidence · 95.6th 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

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.

None of the matched observational studies is currently listed as 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 6 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)

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 Wiskott-Aldrich syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 1.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Wiskott-Aldrich syndrome" OR "Eczema-thrombocytopenia-immunodeficiency syndrome" OR "Wiskott Aldrich syndrome" OR "Wiskott-Aldrich syndrome 1" OR "Wiskott-Aldrich syndrome, X-linked recessive" OR "immunodeficiency 2") OR ("WAS syndrome" OR "WAS-related")

Run this search on Europe PMC

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

"Wiskott-Aldrich syndrome" OR "Eczema-thrombocytopenia-immunodeficiency syndrome" OR "Wiskott Aldrich syndrome" OR "Wiskott-Aldrich syndrome 1" OR "Wiskott-Aldrich syndrome, X-linked recessive" OR "immunodeficiency 2"

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 · 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: WAS

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 2026-07-26T15:52:07.366Z