RecruitingNCT04528355
Immune
Wiskott-Aldrich Syndrome
Also known as WAS, eczema-thrombocytopenia-immunodeficiency, WASp deficiency
Wiskott-Aldrich Syndrome is an X-linked disorder caused by mutations in the WAS gene encoding WASp, a cytoskeletal regulatory protein expressed exclusively in hematopoietic cells, leading to the classic triad of microthrombocytopenia, eczem
ORPHA:906 ↗Gene WASPrevalence 1 in 250,000-1,000,000 male birthsOnset InfancyCombined primary immunodeficiency with cytoskeletal defect
2
studies recruiting now
as of 7 Sept 2026
42
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
27 Aug 2020
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 2NCT01962415
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome is an X-linked disorder caused by mutations in the WAS gene encoding WASp, a cytoskeletal regulatory protein expressed exclusively in hematopoietic cells, leading to the classic triad of microthrombocytopenia, eczema, and combined immunodeficiency. Immune dysfunction affects T cells, B cells, and NK cells, resulting in susceptibility to bacterial, viral, and opportunistic infections along with autoimmune complications and an elevated risk of lymphoma. Gene therapy approaches using lentiviral vectors have demonstrated curative potential in trials for patients lacking a suitable transplant donor.
Common clinical features
Microthrombocytopenia with bleeding tendencySevere atopic eczemaRecurrent bacterial and opportunistic infectionsAutoimmune hemolytic anemia and vasculitisElevated risk of B-cell lymphoma (EBV-associated)Impaired NK-cell and T-cell functionBloody diarrhea in infancy
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
5 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Romiplostim (Nplate)
Phase 2Eltrombopag (Revolade)
Phase 1/2Busulfan (Busilvex)
Phase 1Thiotepa (Tepadina)
Phase 1Melphalan (Alkeran)
Before you apply
Things trial teams commonly ask about for Wiskott-Aldrich Syndrome. Not eligibility rules; those are set by each study.
- Gene therapy trials typically require confirmed pathogenic WAS mutation and absence of matched sibling donor; HLA typing of all family members should be completed before applying
- Platelet count thresholds (often >10,000/µL without support) and absence of active bleeding are common safety eligibility criteria
- Autoimmune disease activity score and current immunosuppression regimen must be documented; active severe autoimmunity may exclude participation
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).