DeCure for Autosomal recessive congenital ichthyosis 4A
DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for autosomal recessive congenital ichthyosis 4A — 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 moduleAutosomal recessive congenital ichthyosis 4A 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 autosomal recessive congenital ichthyosis 4a 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.
What the evidence adds up to
The 2018 European guidelines cover management of complications and particularities of some forms of congenital ichthyosis, but do not report any drug efficacy data, survival rates, or response rates for any specific treatment. The guidelines are based on a systematic review of current literature and expert consensus from a 2016 conference in Toulouse.
A 2024 case report describes a patient with autosomal recessive congenital ichthyosis due to a novel CYP4F22 mutation who presented with a collodion membrane at birth and ocular manifestations. The authors note that CYP4F22 mutations typically lead to a mild ichthyosis phenotype, and that ocular manifestations have recently been reported in another patient with the same gene mutation, suggesting a possible correlation. No treatment outcomes or drug interventions are reported for this patient.
A 2018 study of a collodion baby of Uyghur Chinese origin found compound heterozygous mutations in the TGM1 gene (c.919C>T and a novel c.856C>T mutation) by high-throughput sequencing of 25 ichthyosis-related genes. The child's father was a heterozygous carrier of the novel mutation; neither mutation was found in the mother. No drug treatment or clinical outcome data are provided.
What is still missing: randomised controlled trials or large case series testing any specific drug for autosomal recessive congenital ichthyosis 4A; validated patient stratification by genotype (CYP4F22 versus TGM1 versus other genes); and dedicated funding for such trials in this rare disease population.
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.
Pediatric Dermatology · 2024 · 1 citations · open access
Autosomal recessive congenital ichthyosis due to novel <scp>CYP4F22</scp> mutation presenting with a collodion membrane and ocular manifestations
AbstractAutosomal recessive congenital ichthyoses (ARCI) are a range of genetic disorders of keratinization. The rare CYP4F22 gene mutation can present with or without collodion membrane at birth and leads to the development of mild ichthyosis phenotype. We report a case of a novel pathogenic CYP4F22 genetic mutation presenting with collodion membrane and ocular manifestations. Ocular manifestations have recently been reported in a patient with ARCI with known CYP4F22 mutation, which further supports a possible correlation between the CYP4F22 mutation and this distinct phenotype.
[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.
