DeCure for Autosomal recessive inherited pseudoxanthoma elasticum
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive inherited pseudoxanthoma elasticum — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAutosomal recessive inherited pseudoxanthoma elasticum maps to a 4-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 autosomal recessive inherited pseudoxanthoma elasticum 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
xylosyltransferase 1 (XYLT1) — XYLT1 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 udxdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6EJ7 · 2.0 Å · ligand URIDINE-5'-DIPHOSPHATE-XYLOPYRANOSE (UDX). Experimental structure, not a prediction.
What the evidence adds up to
A 1974 study of 140 British patients with pseudoxanthoma elasticum identified two autosomal recessive disease patterns. Type 1 recessive PXE presented with a flexurally distributed rash, moderately severe retinal disease, and a particular predisposition to gastrointestinal bleeding. Type 2 recessive disease was much rarer and affected the entire skin, which became loose-fitting, lax, and extensively infiltrated with degenerated elastic fibres. By 1999, families segregating either autosomal dominant or autosomal recessive PXE had been mapped to chromosome 16p13.1, but the underlying molecular defect remained unknown.
A 2021 case report of two teenage sisters confirmed that PXE is a rare inherited autosomal recessive disorder of connective tissue that typically presents in the second decade of life. It leads to progressive cutaneous, ocular and cardiovascular manifestations due to calcification. The report reviewed the genetics, pathogenesis and multisystem associations, and stated that comprehensive management to mitigate atherosclerotic risk factors and identify emerging sequelae is important to minimise the disease burden.
No drug treatment was tested or reported in any of these abstracts. No survival data, response rates, or sample sizes beyond the 140-patient cohort and the two-sister case report were given. The abstracts describe natural history and genetic mapping, not therapeutic intervention.
What is still missing is any clinical trial testing a drug for PXE, any identified molecular target for therapy, and any patient stratification beyond the two recessive subtypes described in 1974. Funding for drug-repurposing trials and for basic research into the calcification mechanism is absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Dermatology · 1974 · 63 citations
Two Types of Autosomal Recessive Pseudoxanthoma Elasticum
AbstractRecent clinical examination of 140 British patients with pseudoxanthoma elasticum (PXE) showed both autosomal and recessive inheritance. Fifty-seven recessive families were studied and showed two disease patterns. Patients with type 1 recessive PXE had flexurally distributed rash, moderately severe retinal disease, and a particular predisposition to gastrointestinal bleeding. Type 2 recessive disease is much rarer and affects the entire skin which is loose-fitting, lax, and extensively infiltrated with degenerated elastic fibers. Pooled data for these two groups clearly support an autosomal recessive pattern of inheritance.
Journal of Cutaneous Medicine and Surgery · 1999 · 6 citations
Recent Advances in Gene Mapping of Skin Diseases: Pseudoxanthoma Elasticum: A Satisfying Sibling Study
AbstractBACKGROUND: A review of the recent progress made in mapping of the hereditary skin disease pseudoxanthoma elasticum is presented. METHODS: Affected sib pair methods, parametric linkage analysis, and linkage heterogeneity tests are reviewed as applied to the effort to identify the location of the pseudoxanthoma elasticum gene. RESULTS: Families segregating either autosomal dominant or autosomal recessive pseudoxanthoma elasticum mapped to chromosome 16p13.1. CONCLUSION: There is a gene for pseudoxanthoma elasticum on chromosome 16p. The underlying molecular defect remains to be elucidated.
UWA Profiles and Research Repository (University of Western Australia) · 2021 · 0 citations
Pseudoxanthoma elasticum presenting in teenage sisters: case report and review of multisystem associations.
AbstractPseudoxanthoma elasticum (PXE) is a rare inherited autosomal recessive disorder of connective tissue that typically presents in the second decade of life. It leads to progressive cutaneous, ocular and cardiovascular manifestations due to calcification. We report two sisters with PXE diagnosed in their teenage years and review the genetics, pathogenesis and multisystem associations. Comprehensive management to mitigate atherosclerotic risk factors and identify emerging sequelae is important to minimise the disease burden.
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.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
