DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Wiskott-Aldrich syndrome — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleWiskott-Aldrich syndrome maps to a 3-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for wiskott-aldrich syndrome is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
WASP actin nucleation promoting factor (WAS) — WAS is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet atpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2A3Z · 2.078 Å · ligand ADENOSINE-5'-TRIPHOSPHATE (ATP). Experimental structure, not a prediction.
What the evidence adds up to
Wiskott-Aldrich syndrome is an X-linked disorder defined by microthrombocytopenia, eczema, recurrent infections, and a raised risk of autoimmunity and malignancy. The genetic defect was unknown until the mid-1990s; identification of the mutated WASP gene, which encodes a protein that activates actin cytoskeletal reorganisation in haematopoietic cells, has since enabled a prenatal diagnostic test and a diagnostic assay. A retrospective review from that period characterised the natural history of the disease.
A 2017 case report described two 7-year-old cousins with a classic WAS gene mutation who presented with a milder phenotype than usual. They had no severe infections or haemorrhage, and their symptoms and infections responded to treatment with intravenous immunoglobulin and antibiotics. This was presented as a novel clinical phenotype of classic WAS with milder symptoms.
A 2025 retrospective study evaluated outcomes after haematopoietic stem cell transplantation (HSCT) in five boys with WAS. Age at diagnosis ranged from 1 month to 7 years (mean 31.2 months). Two patients received haploidentical grafts and three received geno-identical grafts. Conditioning regimens varied; in vivo T-cell depletion used post-transplant cyclophosphamide in the two haploidentical recipients. All patients achieved engraftment with full donor chimerism. Post-transplant complications included bacterial infections in all five, cytomegalovirus reactivation in two, acute graft-versus-host disease in two, chronic GVHD in one, and thrombotic microangiopathy in two. One patient died at 3 years 5 months from extensive chronic GVHD. Four patients were alive and considered cured. The authors concluded that HSCT is curative for most patients with severe WAS but that post-transplant complications remain significant.
What is still missing is prospective data from larger, multicentre cohorts that could refine conditioning regimens and GVHD prophylaxis, as well as studies that stratify patients by genotype and severity to determine which patients benefit most from HSCT versus conservative management. No drug repurposing data for WAS were present in these abstracts.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Journal of Pediatrics · 1995 · 7 citations
Genetic and clinical advances in Wiskott-Aldrich syndrome
AbstractWiskott-Aldrich syndrome is an immunodeficiency associated with thrombocytopenia, recurrent infections, eczema, and a predisposition to malignancy. Until this past year, the genetic defect was unknown, and our understanding of the disease was limited to defining the aberrant immunologic and hematologic functions in these patients. The identification of the genetic defect has already improved our understanding of the pathogenesis of this complex disease and has already resulted in the development of a more widely applicable prenatal diagnostic test. Other important developments this past year include the development of a diagnostic assay that should simplify the identification of Wiskott-Aldrich syndrome patients and a retrospective review that characterizes the natural history of the disease.
Current Opinion in Allergy and Clinical Immunology · 2001 · 6 citations
Linking cellular activation to cytoskeletal reorganization: Wiskott–Aldrich syndrome as a model
AbstractThe Wiskott-Aldrich syndrome is an inherited X-linked disorder characterized by immune deficiency, eczema, and thrombocytopenia with small platelets. The mutated protein, Wiskott-Aldrich syndrome protein, is an activator of actin cytoskeletal reorganization in hematopoietic cells. Members of the Wiskott-Aldrich syndrome protein family are being shown to be key integrators of cell signalling and cytoskeletal organization in many eukaryotic cell types. This review focuses on recent discoveries that reveal in increasing detail how Wiskott-Aldrich syndrome protein and its related proteins operate.
Iranian Journal of Pediatrics · 2017 · 1 citations · open access
Evaluation of Classic Wiskott Aldrich Syndrome with Mild Symptoms in Two Cousins: A Case Report
AbstractIntroduction: WiskottâAldrich syndrome (WAS) is characterized by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of autoimmunity. Commonly, classic WAS is presented with severe clinical symptoms. Case Presentation: We report a new phenotype of classic WiskottâAldrich syndrome with mild symptoms in two cousins who were 7 years old. They had not severe infections or hemorrhage, in spite of having genetic mutation in WAS gene. The symptoms and infections of the patients responded to treatment with IVIG and antibiotics. Conclusions: This report is presenting a novel clinical phenotype of classic WAS with milder symptoms.
Journal of Human Immunity · 2025 · 0 citations · open access
HSCT in Wiskott-Aldrich Syndrome
AbstractIntroduction Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder primarily affecting males, characterized by a combination of immunodeficiency, thrombocytopenia, and eczema. This condition is caused by a mutation in the WASP gene, which is essential for the proper functioning of immune cells. HSCT remains the treatment of choice for severe forms of the disease, enabling the restoration of immune function. The aim of this study was to evaluate the outcomes after HSCT in children with Wiskott-Aldrich syndrome. Methods This is a retrospective descriptive study including children with WAS who underwent HSCT. Results Five boys with WAS were included. The age at diagnosis ranged from 1 month to 7 years, with a mean age of 31.2 months. Two patients received haploidentical grafts, and three received geno-identical grafts. Three patients received a protocol based on fludarabine and busulfan; one patient received busulfan, fludarabine, and antithymocyte globulin; and the last patient received fludarabine, thiotepa, and treosulfan. In vivo T depletion was based on post-transplant cyclophosphamide in the two patients receiving haploidentical HSCT. Post-transplant complications included bacterial infections in all patients, viral reactivation (CMV) in two patients, and acute graft-versus-host disease (GVHD) in two patients. Chronic GVHD was observed in one case. Furthermore, two patients developed thrombotic microangiopathy. All patients achieved engraftment with full donor chimerism. Finally, one patient out of five died at the age of 3 years and 5 months from extensive chronic GVHD. Four patients are alive and cured. Conclusion HSCT is a curative treatment in most patients with severe forms of WAS. However, post-transplant complications, including bacterial infections, viral reactivation, and GVHD, remain significant challenges in the management of these patients.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
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