DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive cutis laxa type 2B — 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 2B 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 2b 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
A 1983 report described six new patients with congenital cutis laxa, ligamentous laxity, and delayed development, bringing the total known cases to thirteen. All thirteen patients were female. The syndrome included congenital dislocation of the hips, wide patency and delayed closure of the anterior fontanel, and delayed intrauterine and extrauterine growth and development. The authors suggested inheritance could be autosomal recessive or X-linked dominant lethal in males.
In 1985, two families with four affected individuals were reported. Family A contained a single affected male child with developmental delay and ligamentous laxity, only the second male among fifteen total patients with this syndrome. Family B had three affected males, two with significant involvement of other systems. Only one of the four children had very obvious loose skin folds; the authors warned that relying on this feature alone could cause under-diagnosis. The pedigree suggested recessive inheritance in Family B, but the mode in Family A was inconclusive.
A 2002 report described seven members of a North Indian family affected by the autosomal dominant variant of cutis laxa, which is usually not associated with systemic defects and has a good prognosis. The authors suggested monitoring the cardiorespiratory systems to detect any systemic complications, though they noted these are rare in the dominant variant.
A 2008 study analysed three unrelated families with type II autosomal recessive cutis laxa for mutations in three genes implicated in other forms of cutis laxa: LOX, FBLN4, and FBLN5. Two individuals had been previously reported; the third case was described in detail. No causative mutations were identified. What is still missing is a clear genetic cause for this specific subtype, larger patient cohorts to enable meaningful molecular studies, and funding for whole-exome or whole-genome sequencing that might identify the responsible gene.
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.
American Journal of Medical Genetics Part A · 2008 · 4 citations
Type II autosomal recessive cutis laxa: Report of another patient and molecular studies concerning three candidate genes
AbstractCutis laxa is a rare disorder of connective tissue in which the skin sags excessively, giving the individual an aged appearance. In the present study we analyzed three unrelated families with type II autosomal recessive cutis laxa for mutations in three genes implicated in other forms of cutis laxa; LOX, FBLN4, and FBLN5 genes. Two individuals have been previously reported, and the third case is described in detail. No causative mutations were identified.
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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