DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal dominant cutis laxa — 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 moduleAutosomal dominant cutis laxa 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 autosomal dominant cutis laxa 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
aldehyde dehydrogenase 18 family member A1 (ALDH18A1) — ALDH18A1 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2H5G · 2.25 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 45-year-old woman and her 19-year-old son were clinically diagnosed with autosomal dominant cutis laxa and found to carry a novel elastin gene mutation (2292delC) that predicts a frameshift and replacement of the normal C-terminal amino acid with a novel sequence. This was the fourth report of autosomal dominant cutis laxa linked to an elastin gene mutation. No treatment or intervention was tested in that report.
A separate syndrome of congenital cutis laxa with ligamentous laxity and delayed development has been described in six new patients, bringing the total reported to thirteen. All thirteen patients have been female. Characteristics include congenital hip dislocation, wide patency and delayed closure of the anterior fontanel, and delayed intrauterine and extrauterine growth and development. The authors suggest inheritance may be autosomal recessive or X-linked dominant lethal in males.
In autosomal recessive cutis laxa type IIIA, caused by recessive or de novo pathogenic variants in ALDH18A1, a 13-month-old patient was described with an extremely severe phenotype including novel neurological findings. The authors note that autosomal recessive variants produce the most severe neurological phenotype, and very few patients have been described. No therapeutic intervention was reported.
No drug, compound, or treatment is mentioned in any of these abstracts. What remains missing is any clinical trial, any preclinical drug testing, any patient stratification beyond genetic diagnosis, and any funding directed toward pharmacological intervention for cutis laxa of any inheritance pattern.
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 · 2004 · 84 citations
A Novel Elastin Gene Mutation Resulting in an Autosomal Dominant Form of Cutis Laxa
AbstractBACKGROUND: Cutis laxa is an extremely rare disorder characterized by marked skin laxity. Few cases of cutis laxa have been described worldwide. Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. Only 3 mutations in the elastin gene have been described as the genetic cause of the autosomal dominant form of cutis laxa. OBSERVATIONS: A 45-year-old woman and her 19-year-old son presented with inelastic, loose-hanging, and wrinkled skin that appeared prematurely aged and were clinically diagnosed as having cutis laxa. Mutational analysis of the elastin gene evidenced a novel mutation (2292delC) that predicts a frameshift in the coding region and causes translation to proceed into the 3'-untranslated region. This would replace the C-terminal amino acid of the normal elastin protein with a novel sequence. CONCLUSION: This article is the fourth report of autosomal dominant cutis laxa to appear in the literature in which a mutation in the elastin gene has been correlated with the disease.
Syndrome of Cutis Laxa Ligamentous Laxity and Delayed Development
AbstractCongential cutis laxa with ligamentous laxity and delayed development appears to be a distinct syndrome. Experience with six patients brings the total number of cases described to 13. Characteristics of the syndrome include congenital dislocation of the hips, wide patency and delayed closure of the anterior fontanel, and delayed intrauterine growth and extrauterine growth and development. Each of the 13 patients has been female. Inheritance may be as an autosomal recessive or an X-linked dominant lethal in the male.
Indian Journal of Dermatology · 2013 · 11 citations · open access
Cutis laxa: A report of two interesting cases
AbstractCutis laxa is a rare disease that may be either inherited or acquired. The acquired form is rarer than the inherited form. Pathogenesis of this disease is largely unknown. Two cases of acquired cutis laxa are reported here and neither of them had any systemic involvement or any history of drug intake. One of them had localized disease with history of preceding cutaneous inflammation. The other patient with generalized lesion lacked any history of preceding illness. The patient with localized lesion was treated satisfactorily by reconstructive surgery. The other patient had generalized involvement, for which no satisfactory treatment could be offered.
Neuropediatrics · 2020 · 3 citations · open access
Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA
AbstractAbstract Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described. We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. This description enlarges the neurological spectrum associated to cutis laxa, autosomal recessive, type IIIA, and provides an additional description of this 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.
