DeCure for Cutis laxa, autosomal recessive, type 1A
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for cutis laxa, autosomal recessive, type 1A — 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 moduleCutis laxa, autosomal recessive, type 1A 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 recessive, type 1a 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
Four individuals from two families with congenital cutis laxa are described in a 1985 report. One male child in family A had developmental delay and ligamentous laxity; only one of the four children had obvious loose skin folds, and the authors warn that relying on that feature alone could lead to under-diagnosis. The mode of inheritance in family A was inconclusive, while family B, with three affected males, suggested recessive inheritance. A 1990 report of a brother and sister from Turkey with congenital cutis laxa, ligamentous laxity, and delayed development notes severe manifestations in the male and discusses possible X-linked dominant inheritance, but also provides ultrastructural and biochemical skin studies.
A 2002 report describes seven members of a North Indian family with the autosomal dominant variant of cutis laxa, which typically lacks systemic defects and has a good prognosis. The authors suggest monitoring cardiorespiratory systems to detect rare systemic complications. A separate 1985 report on seven patients with an intermediate form of cutis laxa—associated with mental and growth retardation—found that all had marked skin changes early in life and some degree of mental retardation that ultimately proved less severe than initially apparent. That series included four affected males, which the authors argue makes X-linked dominant inheritance unlikely; they propose autosomal recessive inheritance instead, noting previous reports of consanguinity and affected siblings.
No abstract in this set reports any drug treatment, clinical trial, or survival data for autosomal recessive cutis laxa type 1A. The literature consists entirely of small case series and family reports, with no consistent molecular diagnosis or patient stratification. What is missing is any funded clinical trial, a standardised outcome measure for skin or systemic involvement, and a cohort large enough to test a drug.
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.
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.
American Journal of Medical Genetics · 1990 · 20 citations
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: Report of a brother and sister from Turkey
AbstractCongenital cutis laxa with ligamentous laxity and delayed development has recently been defined as a distinct entity of autosomal recessive inheritance. Here we report on 2 new cases of this syndrome. With severe manifestations in the male, X-linked dominant inheritance is discussed. Results of ultrastructural studies of skin and biochemical studies are reported.
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.
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.
Gastroenterology report · 2014 · 0 citations · open access
<i>Cutis laxa</i>presenting as recurrent ileus
AbstractCutis laxa (CL) is a rare connective tissue disorder characterized by phenotypic appearance of loose and redundant skin. CL can be congenital or acquired. Congenital forms include autosomal dominant, autosomal recessive and X-linked recessive. Apart from cutaneous abnormalities, CL can present with visceral involvement. In this article, we report a case of CL presenting as recurrent ileus.
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.
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