DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Muckle-Wells 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 moduleMuckle-Wells 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 muckle-wells 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
interleukin 1 beta (IL1B) — IL1B 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 2sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5R8Q · 1.23 Å · ligand 1-methyl-N-{[(2S)-oxolan-2-yl]methyl}-1H-pyrazole-3-carboxamide (JGY). Experimental structure, not a prediction.
What the evidence adds up to
Muckle-Wells syndrome is a rare autosomal dominant disorder characterised by chronic recurrent urticaria, arthralgia, sensorineural deafness, and in some cases nephropathy due to AA-type amyloidosis. A 1994 report described the arthropathy in four cases as recurrent bouts of transient synovitis, with one patient developing a persistent sterile pyoarthrosis. A 1998 study of a 21-year-old woman and her father documented elevated serum levels of interleukin-6 during flares of urticaria. A 1994 four-generation family report noted seven affected persons, with bipolar aphthosis in five cases and cystinuria in one; two other relatives had ichthyosis.
A 2007 case report identified a novel H312P missense mutation in the CIAS1/NALP3 gene in a 23-year-old woman who had recurrent self-limited inflammatory episodes from childhood, including headache, abdominal pain, arthritis, urticarial rash, and profound sensorineural hearing loss. The diagnosis was based on the typical clinical picture together with this mutation, which replaced an amino acid adjacent to one in an earlier reported case of MWS resembling this one.
No treatment data, response rates, or survival figures appear in these abstracts. The literature consists entirely of small case series and single-family reports, with no controlled trials or prospective cohorts. The natural history of amyloid nephropathy and hearing loss remains poorly quantified.
What is still missing is any systematic trial of a targeted therapy, a clear understanding of which patients progress to amyloidosis, and a sufficiently large cohort to stratify by genotype or inflammatory biomarker levels. Without funding for a multi-centre registry and randomised trials, the evidence base will remain anecdotal.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
British Journal of Dermatology · 1979 · 107 citations
The 'Muckle–Wells' syndrome
AbstractJournal Article The 'Muckle–Wells' syndrome Get access T.J. MUCKLE T.J. MUCKLE Chedoke Hospitals, Sanatorium Road, Hamilton, Ontario, Canada Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 100, Issue 1, 1 January 1979, Pages 87–92, https://doi.org/10.1111/j.1365-2133.1979.tb03572.x Published: 01 January 1979
AbstractMuckle-Wells syndrome (MWS) is a rare condition characterized by urticaria, arthralgias, deafness and amyloid nephropathy. The arthropathy is poorly documented. We describe the arthropathy occurring in four cases of MWS and discuss the management. Each patient developed recurrent bouts of transient synovitis. One patient developed a persistent sterile pyoarthrosis.
Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis?
AbstractMuckle-Wells syndrome (MWS) is a rare autosomal dominant hereditary disorder characterized by chronic recurrent urticaria, arthralgia, sensorineural deafness, and in some cases nephropathy due to amyloidosis (AA type). We report a 21-year-old woman and her father, both suffering from this syndrome, in whom elevated serum levels of IL-6 could be documented during the flares of urticaria, and discuss the relevance of this finding for MWS.
American Journal of Medical Genetics · 1994 · 18 citations
Autosomal dominant Muckle‐Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four‐generation family
AbstractMuckle-Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation, and secondary amyloidosis (AA type). We report on a 4-generation family with 7 persons sharing various signs of this syndrome associated with bipolar aphthosis in 5 cases and cystinuria in one. Two other relatives in the family had ichthyosis.
A case of Muckle–Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin)
AbstractHere, we report a case of Muckle-Wells syndrome (MWS) caused by a novel mutation in the CIAS1/NALP3 gene. A 23-year-old woman had recurrent self-limited inflammatory episodes from childhood, with headache, abdominal pain, arthritis, and urticarial rash, associated with profound sensorineural hearing loss. The diagnosis was established on the basis of a typical clinical picture together with a missense mutation, which replaced an amino acid adjacent to one in an earlier reported case of MWS resembling this one.
A case of Muckle–Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin)
AbstractHere, we report a case of Muckle–Wells syndrome (MWS) caused by a novel mutation in the CIAS1/NALP3 gene. A 23-year-old woman had recurrent self-limited inflammatory episodes from childhood, with headache, abdominal pain, arthritis, and urticarial rash, associated with profound sensorineural hearing loss. The diagnosis was established on the basis of a typical clinical picture together with a missense mutation, which replaced an amino acid adjacent to one in an earlier reported case of MWS resembling this one.
Siberian medical review · 2021 · 1 citations · open access
Muckle-Wells syndrome (a clinical case)
AbstractA clinical case of Muckle-Wells syndrome in a 3-years old child is presented. Muckle-Wells syndrome is among the group of human autoinflammatory diseases (cryopyrin-associated periodic syndromes) – rare genetic diseases characterised by systemic inflammation in absence of other revealed autoimmune and infectious reasons. The disease is characterised by the combination of fever, skin rash and other symptoms accompanied by development of potentially disabling or life-threatening complications. The clinical case presented illustrates the course as well the difficulties in diagnosis and treatment of Muckle-Wells syndrome.
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.
