DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for cutis laxa, autosomal dominant 2 — 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 dominant 2 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 2 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
Congenital cutis laxa with ligamentous laxity and delayed development was described in six new patients in 1983, bringing the total then to 13; all 13 were female, and the authors suggested inheritance could be autosomal recessive or X-linked dominant lethal in males. A 1985 report then added a single affected male child with developmental delay and ligamentous laxity, making him only the second male among 15 reported patients with that syndrome; the same paper described a separate family with three affected males, two with significant systemic involvement, and noted that only one of the four affected children had obvious loose skin folds, so relying on that sign alone could cause under-diagnosis. Another 1985 series reported seven patients with an intermediate form of cutis laxa associated with mental and growth retardation; all had marked skin changes early in life and some degree of mental retardation that proved less severe than it first appeared, and because four of the seven were male the authors considered X-linked dominant inheritance unlikely and favoured autosomal recessive.
The autosomal dominant variant of cutis laxa is usually not associated with systemic defects and has a good prognosis, according to a 2002 report of seven affected members in a North Indian family; the authors nonetheless suggested monitoring the cardiorespiratory systems because rare complications can occur. A 2020 paper described a 13-month-old patient with autosomal recessive cutis laxa type IIIA caused by ALDH18A1 variants, noting that recessive variants produce the most severe neurological phenotype and that very few such patients have been described; this child had an extremely severe phenotype with novel neurological findings. A 2019 anaesthetic case series noted that cutis laxa type III (de Barsy syndrome) presents with ophthalmic, skeletal, cardiovascular, and growth problems, and that intraoperative non-malignant hyperthermia with tachycardia occurs in 10% of type III cases, so core and peripheral temperature monitoring is required.
No abstract in this set reports a treatment trial, a drug, or any intervention that altered the course of cutis laxa. What is missing is any clinical trial funding, any prospective study design, and any attempt to stratify patients by genetic subtype beyond the few case reports and small family series available.
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.
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.
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.
International Journal of Innovative Research in Medical Science · 2019 · 0 citations · open access
Anaesthetic Considerations in Patients with Cutis Laxa: Our Experience
AbstractCutis laxa is a rare, inherited or acquired connective tissue disorder. It is characterized by loose, inelastic skin and various systemic involvements. Cutis laxa type III, described as de Barsy syndrome presents with ophthalmic opacification, skeletal involvement, cardiovascular involvement, mental and growth retardation. Intraoperative hyperthermia of the non-malignant variety with tachycardia is seen in 10% cases of cutis laxa type III. Given the rarity of cutis laxa syndrome, all cases require core and peripheral temperature monitoring.
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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