DeCure for Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
DeCure's autonomous Respiratory AI scientist is researching a drug-repurposing hypothesis for cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies — 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 with severe pulmonary, gastrointestinal and urinary anomalies 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 with severe pulmonary, gastrointestinal and urinary anomalies 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 children with cutis laxa were described in a 1978 autopsy series; three were siblings from a Canadian Indian family, the fourth an American Black child. Post-mortem examination of the first three cases showed pulmonary emphysema as the most common and serious visceral complication, present in two of the three autopsied children and visible on chest X-ray in the fourth. Additional findings included large inguinal and perineal hernia, rectal diverticulum, and multiple diverticulae of the urinary bladder.
A 2024 case report describes a 36-year-old Japanese woman diagnosed with cutis laxa at birth who presented with severe obstructive ventilatory impairment on preoperative pulmonary function tests (FEV1/FVC: 34.85%). Tests also indicated small airway disease, with FEF50% at 7.9%, FEF75% at 5.7%, and FEF25–75% at 6.8%. Computed tomography showed pronounced air trapping during expiration but no emphysematous changes. Exome sequencing revealed a frameshift variant in exon 30 of the elastin gene (ELN). Quantitative CT analysis using a parametric response map showed a longitudinal increase in the percentage of functional small airway disease over time, despite no overt changes in air trapping or emphysema on standard CT, and a slight reduction in FEV1.
A 2020 review notes that cutis laxa is an inherited or acquired connective tissue disorder with wrinkled, redundant, inelastic skin and, in some cases, severe systemic involvement. Several inherited forms exist, differentiated by inheritance pattern, extent of internal organ involvement, associated anomalies, and disease severity.
No drug treatment is mentioned in any of these abstracts. What is missing for this specific severe phenotype—with pulmonary, gastrointestinal, and urinary anomalies—is any prospective natural history study that quantifies progression rates in these organ systems, a standardised pulmonary function and imaging protocol to distinguish small airway disease from emphysema in living patients, and a tissue or biomarker repository that could eventually support a drug-repurposing screen. No trial design or patient stratification strategy has been proposed.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Cutaneous Pathology · 1978 · 47 citations
Cutis Laxa (Generalized Elastolysis) A Report of Four Cases with Autopsy Findings
AbstractFour children with cutis laxa (generalized elastolysis) are reported. The first three cases were siblings from a Canadian Indian family and the fourth case was the only affected child in an American Black family. Loose and sagging skin folded over the face, neck and trunk, gave a premature senile appearance. Post-mortem examination was performed on the first three cases. The most common and serious visceral involvement was development of pulmonary emphysema. This was present in two autopsied cases and was demonstrated by chest X-ray in the fourth case. Other abnormalities included large inguinal and perineal hernia, rectal diverticulum and multiple diverticulae of the urinary bladder.
Research Square · 2024 · 0 citations · open access
The first Japanese case of small airway disease in a patient with autosomal dominant cutis laxa harboring frameshift variant in exon 30 of the elastin gene
AbstractAbstract Background: Cutis laxa constitutes a diverse group of connective tissue diseases, both inherited and acquired, characterized by loose skin and varying systemic involvement, including pulmonary lesions. While cutis laxa has been linked to conditions like emphysema, asthma, and bronchiectasis, the specific pathological and radiological characteristics underlying pulmonary complications related to cutis laxa remain unclear. Case presentation: A 36-year-old woman, diagnosed with cutis laxa at birth, presented to our outpatient clinic with severe obstructive ventilatory impairment, evident in preoperative pulmonary function tests (expiratory volume in one second (FEV 1 )/forced vital capacity (FVC): 34.85%). Pulmonary function tests also indicated small airway disease (FEF50%, 7.9%; FEF75%, 5.7%; and FEF25–75%, 6.8%). Computed tomography (CT) revealed pronounced air trapping during expiration, with no discernible emphysematous changes. Exome sequencing was performed to confirm the association between the pulmonary lesions and cutis laxa, revealing a frameshift variant in exon 30 of the elastin gene ( ELN ). Further analysis employing a parametric response map revealed a longitudinal increase in the percentage of functional small airway disease (fSAD), despite the absence of overt changes in CT findings, specifically air trapping and emphysema. Conclusions: This case highlighted an instance of autosomal dominant cutis laxa arising from a frameshift variant in exon 30 of ELN , accompanied by small airway disease. Comprehensive investigation, utilizing quantitative CT analysis, revealed a longitudinal increase in fSAD percentage with a slight reduction in FEV 1 . These findings indicate that elastin deficiency may not only diminish elastic fibers in the skin but also be implicated in small airway disease by impacting components of the extracellular matrix in the lungs.
AbstractCutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement.Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
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.
