Rare & Orphan Lab · DeCure for X

DeCure for Cutis laxa, autosomal dominant 3

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for cutis laxa, autosomal dominant 3 — 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 module1 genesLead labRare & Orphan
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Rare & OrphanDOID:0070131$DeCureRare

The disease map

Disease moduleCutis laxa, autosomal dominant 3 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 cutis laxa, autosomal dominant 3 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

No drug treatment is mentioned in any of the four abstracts. The autosomal dominant form of cutis laxa (type 3) is described in a 2002 report of seven members of a North-Indian family as usually lacking systemic defects and having a good prognosis, though the authors suggest cardiorespiratory monitoring. A 1983 series of six patients (bringing the total described to thirteen) reports congenital hip dislocation, delayed fontanel closure, and delayed growth and development; all thirteen patients were female, and the authors propose autosomal recessive or X-linked dominant inheritance lethal in males. A 1985 series of seven patients with an intermediate form reports marked skin changes from early life and some degree of mental retardation that proved less severe than initially appeared; four of the seven were male, which the authors say makes X-linked dominant inheritance unlikely, and they favour autosomal recessive inheritance instead.

Two cases of acquired cutis laxa are reported in 2013, with no systemic involvement and no history of drug intake. One patient had localised disease preceded by cutaneous inflammation and was treated satisfactorily with reconstructive surgery; the other had generalised disease with no preceding illness and no satisfactory treatment could be offered. The pathogenesis of cutis laxa is described as largely unknown.

No drug has been tested or proposed for cutis laxa in these abstracts. What is missing is any clinical trial, any drug candidate, any animal model of drug treatment, any molecular target, and any patient stratification beyond the clinical distinction between dominant, recessive, and acquired forms. Funding for basic research into the elastin and extracellular matrix pathways that underlie the condition would be needed before any drug could be considered.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

PEDIATRICS · 1983 · 42 citations

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.

https://doi.org/10.1542/peds.72.6.850
Pediatric Dermatology · 2002 · 13 citations

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.

https://doi.org/10.1046/j.1525-1470.2002.00074.x
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.

https://doi.org/10.4103/0019-5154.113986
Journal of Paediatrics and Child Health · 1985 · 4 citations

Cutis laxa with delayed development

AbstractTwo forms of cutis laxa are well delineated. One is a dominant benign disorder in which the greatest impact is on the skin, and the second is an autosomal recessive variety with serious lung involvement and early death. A third form of cutis laxa of intermediate severity, associated with mental and growth retardation, has been described. We report seven patients with this intermediate form. All patients showed marked skin changes early in life and had some degree of mental retardation which ultimately proved less severe than it appeared at presentation. Previous reports have suggested that this disorder occurs in females and may be an X-linked dominant condition which is lethal in males. The finding of four affected males in this series makes this explanation unlikely. As consanguinity and affected sibs have been reported previously it is probably an autosomal recessive disorder.

https://doi.org/10.1111/j.1440-1754.1985.tb00166.x

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.