DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive cutis laxa type 2A — 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 cutis laxa type 2A 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 cutis laxa type 2a 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 2004 report describes a 45-year-old woman and her 19-year-old son with autosomal dominant cutis laxa caused by a novel elastin gene mutation (2292delC). This is the fourth such mutation reported in the literature. No treatment or outcome data beyond the genetic finding are given.
A 1985 paper describes four individuals from two families with congenital cutis laxa. One child had developmental delay and ligamentous laxity. Only one of the four had obvious loose skin folds, suggesting the clinical sign alone can lead to under-diagnosis. The inheritance pattern was recessive in one family and inconclusive in the other. No treatment or survival data are reported.
A 2002 report of seven members of a North Indian family with autosomal dominant cutis laxa states that this variant is usually not associated with systemic defects and has a good prognosis. The authors recommend monitoring for cardiorespiratory complications, though they note these are rare. No quantitative outcomes are provided.
A 2022 case report describes one patient with congenital cutis laxa who received systematic, sequential plastic surgery. The patient was satisfied with the result and had no signs of recurrence at five months. The authors recommend this multi-step surgical approach but acknowledge that previous surgical reports complained of recurrence. No drug treatment is mentioned in any of these abstracts.
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.
AbstractWe present 2 families with 4 individuals suffering from congenital cutis laxa. Family A has a single affected male child with developmental delay and ligamentous laxity, making this only the second male of the total 15 patients so far reported with this particular syndrome. Family B has 3 affected males, 2 of whom have significant involvement of other systems. Only one of the 4 affected children had very obvious loose skin folds and dependency on this clinical feature alone could result in under-diagnosis of this disease. The clinical features and family pedigree information suggests recessive inheritance in Family B but the mode of inheritance in Family A is inconclusive.
AbstractA 5-year-old boy, who had pre- and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation and characteristic facies, is described. Disorders with cutis laxa are now divided into five types. The patient had clinical manifestations very similar to those of cutis laxa with bone dystrophy (type II autosomal recessive cutis laxa). Eighteen patients have been reported, the ratio of males to females being 5 to 14. This is the fifth case of this disorder occurring in a male, which provides further evidence for autosomal recessive inheritance.
Cutis Laxa in Seven Members of a North‐Indian Family
AbstractCongenital cutis laxa, characterized by cutaneous laxity and loose skin, may be autosomal dominant or autosomal recessive. The autosomal dominant variety is usually not associated with any systemic defects and has a good prognosis. We report an unusual family in which seven members were affected by the autosomal dominant variant of this disorder. We suggest that close monitoring of the cardiorespiratory systems may be worthwhile to detect any systemic complications, although these complications are rare in the autosomal dominant variant of cutis laxa.
INDIGO (University of Illinois at Chicago) · 2022 · 0 citations · open access
Data_Sheet_1_Congenital Cutis Laxa: A Case Report and Literature Review.docx
Abstract<p>Cutis Laxa is a rare connective tissue disease featuring inelastic and saggy skin. It is thought that plastic surgery might be the most effective treatment, while the previous pieces of literature on the surgical treatment for Cutis Laxa complained of the recurrence. We report a patient of Congenital Cutis Laxa who has received systematic and sequential treatment based on plastic surgery. The patient is content with the effect of treatment, and there are no signs of recurrence after 5 months. By referring to relevant pieces of literature, we evaluate the clinical manifestations and diagnosis of the disease. A multi-step, systematic, and sequential treatment is recommended for the treatment of Congenital Cutis Laxa.</p>
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.
