DeCure for Ichthyosis, congenital, autosomal recessive 14
DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for ichthyosis, congenital, autosomal recessive 14 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleIchthyosis, congenital, autosomal recessive 14 maps to a 1-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 ichthyosis, congenital, autosomal recessive 14 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
sulfotransferase family 2B member 1 (SULT2B1) — SULT2B1 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 a3pdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1Q1Q · 2.91 Å · ligand ADENOSINE-3'-5'-DIPHOSPHATE (A3P). Experimental structure, not a prediction.
What the evidence adds up to
The 2018 European guidelines of care for congenital ichthyoses, part two, cover management of complications and particularities of some forms of the disease. They are based on a systematic literature review, an expert conference in Toulouse in 2016, and consensus discussions. The guidelines are intended to help clinicians manage these rare and often complex diseases, but the abstract provides no specific treatment recommendations, no drug names, and no outcome data.
A 1986 report describes a family with an unusual expression of recessive ichthyosis, where the scale was thin and fine, resembling ichthyosis vulgaris, but the inheritance was autosomal recessive. The authors reviewed 42 additional patients diagnosed with recessively inherited ichthyosis and concluded there is considerable heterogeneity in cutaneous manifestations. They suggest it is not possible to classify all patients into categories such as lamellar ichthyosis or congenital ichthyosiform erythroderma, and propose using the general term recessive ichthyosis until specific causes are established. No drug or treatment is mentioned.
A 2017 clinico-epidemiological study from a tertiary care centre in Eastern India evaluated 106 patients with congenital ichthyoses over one year (April 2013 to March 2014). The most common type was ichthyosis vulgaris, followed by lamellar ichthyosis and X-linked recessive ichthyosis. One case of Netherton syndrome and one of ichthyosis hystrix were also identified. The abstract reports no treatment data, no drug names, and no outcome measures. It notes that these diseases present with significant psychological stress to patients and families, and have implications for transmission to offspring.
What is still missing for autosomal recessive congenital ichthyosis 14 specifically is any dedicated clinical trial, any drug tested in a controlled setting, any biomarker or genetic stratification to guide therapy, and any funding for such work. The existing literature provides only general management advice and epidemiological description, with no evidence for any pharmacological intervention.
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 · 2018 · 116 citations · open access
Management of congenital ichthyoses: European guidelines of care, part two
AbstractThese guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus on the discussions. These guidelines summarize evidence and expert-based recommendations and intend to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part two, covering the management of complications and the particularities of some forms of congenital ichthyosis.
Report of a Family With an Unusual Expression of Recessive Ichthyosis
AbstractA family with a history of ichthyosis is described in which the type of scale was thin and fine, resembling that of ichthyosis vulgaris, but the inheritance is of the autosomal recessive type. We have reviewed our previous experience with 42 additional patients whose condition had been diagnosed as recessively inherited ichthyosis and conclude that there is considerable heterogeneity in the cutaneous manifestations. We suggest that it is not possible to classify all patients into categories such as lamellar ichthyosis or congenital ichthyosiform erythroderma, and it may be better to use a more general term such as recessive ichthyosis until specific causes can be established.
Indian Journal of Dermatology · 2017 · 15 citations · open access
Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India
AbstractBACKGROUND: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India. AIMS AND OBJECTIVES: The aim is to evaluate the epidemiology and clinical characteristics of various types of congenital ichthyoses. MATERIALS AND METHODS: The study was conducted for 1 year from April 2013 to March 2014. Patients were evaluated for epidemiological profile and clinical features. RESULTS: During the study of 1 year, 106 patients of congenital ichthyoses were identified. The most common of the various ichthyoses was ichthyosis vulgaris, followed by lamellar ichthyosis, X-linked recessive ichthyosis. One case of Netherton syndrome and one of ichthyosis hystrix were also identified. CONCLUSION: Various types of congenital ichthyoses present with different clinical features which range from mild to severe. These present with significant psychological stress to both patients and their families. Furthermore, all these diseases have significant implications of transmission to their offspring.
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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