DeCure for Autosomal recessive congenital ichthyosis 11
DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for autosomal recessive congenital ichthyosis 11 — screening already-approved drugs against its 2-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 congenital ichthyosis 11 maps to a 2-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 congenital ichthyosis 11 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
ST14 transmembrane serine protease matriptase (ST14) — ST14 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 4-carbamimidoylbenzyldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3NCL · 1.19 Å · ligand phenyl (4-carbamimidoylbenzyl)phosphonate (CCZ). Experimental structure, not a prediction.
What the evidence adds up to
No abstract in this set reports a treatment trial or provides survival or response-rate data for autosomal recessive congenital ichthyosis 11. The 2018 European guidelines cover management of complications but do not cite any drug tested specifically for this subtype. A 2017 Indian study of 106 congenital ichthyosis patients found ichthyosis vulgaris most common, followed by lamellar ichthyosis and X-linked recessive ichthyosis; one case of Netherton syndrome and one of ichthyosis hystrix were identified, but no drug outcomes were reported. A 2014 case report on lamellar ichthyosis describes dental rehabilitation, not systemic therapy. A 2018 genetic analysis of a collodion baby identified compound heterozygous TGM1 mutations (c.919C>T and c.856C>T) but did not test any drug.
The abstracts provide no evidence that any drug has been evaluated for autosomal recessive congenital ichthyosis 11. The 1965 genetic classification lists four autosomal recessive ichthyoses (ichthyosiform erythroderma, lamellar ichthyosis, Refsum’s syndrome, Sjögren-Larsson syndrome) but again no treatment data. The 2018 European guidelines are expert consensus, not a controlled trial. No abstract mentions a drug by name in connection with this disease.
What is missing: any funded clinical trial of a repurposed or novel drug for this specific genetic subtype, a validated outcome measure for ichthyosis severity, and patient stratification by TGM1 mutation type. Without these, no drug can be recommended from the available literature.
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 · 1965 · 156 citations
Genetic Classification of Ichthyosis
AbstractIchthyosis has been classified on a genetic basis. Four varieties--ichthyosiform erythroderma, lamellar ichthyosis, Refsum's syndrome and the Sjögren-Larsson syndrome--are inherited as autosomal recessive traits. One type is inherited as a sex-linked recessive trait while another variety of ichthyosis (with or without atopy), bullous ichthyosiform erythroderma, and very rarely ichthyosis hystrix are due to autosomal dominant genes.
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.
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.
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH · 2014 · 11 citations · open access
Lamellar Icthyosis – A case Report
AbstractAutosomal recessive congenital ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems. Clinical presentation, pattern of inheritance, and laboratory evaluation may establish a precise diagnosis, which can assist in prognosis and genetic counseling. There is a little knowledge about the oral manifestations of these disorders.This case report presents management and complete oral rehabilitation of a rare case of lamellar ichthyosis.
[Analysis of TGM1 gene mutation in a collodion baby].
AbstractOBJECTIVE: To explore the genetic cause for a Uyghur Chinese child with collodion skin. METHODS: G-banded chromosomal karyotyping was carried out for the child and his parents. High-throughput sequencing for 25 genes related to ichthyosis and ichthyosiform dermatosis was also performed for the child. RESULTS: No karyotypic abnormality was found in the child and his parents. High-throughput sequencing has detected in the patient a previously described pathogenic mutation c.919C>T (p.Arg307Trp) and a novel c.856C>T (p.Arg286Trp) mutation in the TGM1 gene. By Sanger sequencing, the child was verified to have carried both mutations. His father was found to be a heterozygous carrier of the c.856C>T (p.Arg286Trp) mutation, while neither mutation was found in the mother. CONCLUSION: Congenital ichthyosis associated with the TGM1 gene may show an autosomal recessive inheritance. The collodion condition of the child is probably due to the compound heterozygous mutations of the TGM1 gene.
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.
