DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for multiple pterygium syndrome — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleMultiple pterygium syndrome maps to a 2-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 multiple pterygium syndrome 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
1,4-alpha-glucan branching enzyme 1 (GBE1) — GBE1 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 1s,4r,5s,6sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5CLT · 2.79 Å · ligand 4,6-dideoxy-4-{[(1S,4R,5S,6S)-4,5,6-trihydroxy-3-(hydroxymethyl)cyclohex-2-en-1-yl]amino}-alpha-D-glucopyranose (AC1). Experimental structure, not a prediction.
What the evidence adds up to
The multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. Two unrelated patients aged 17 and 6 years were described in 1981, and the natural history of their disorder since birth was reported alongside a review of phenotypic variation in 25 published cases. A 1990 report described a 9-year-old boy with mild symptoms and no family history, classified as a sporadic case.
Five children with multiple pterygium syndrome were treated between 1978 and 1987, with treatment involving both upper and lower pterygia and contractures. The results of treatment and the modalities used were discussed, and a protocol was suggested, but the 1992 abstract gives no concrete numbers for survival, response rates, or sample sizes beyond the five children treated. No drug treatment is mentioned in any of the abstracts.
No evidence of any pharmacological intervention for multiple pterygium syndrome appears in these abstracts. What is still missing is any controlled trial design, any patient stratification by severity or genetic subtype, and any funding directed toward drug development for this condition.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Cornea · 2001 · 35 citations
Pterygium in Young Members of One Family
AbstractPURPOSE: To report a family with aggressive, early-onset pterygium. METHODS: We examined all living relatives (with one exception) of a Saudi Arabian family and found three members with pterygium (onset occurred when the patients were at early 20s, 6, and 4 years of age). RESULTS: Multiple attempts at surgical removal, even in conjunction with application of topical mitomycin C and use of conjunctival autograft, failed to prevent recurrent pterygium, which advanced across the visual axis and produced profound visual disability in the three cases. CONCLUSION: Contrary to previously published reports of familial pterygium, two of the three cases had childhood age at onset and all three had an aggressive clinical course after the onset of recurrent pterygium after surgical resection; genetic identification may be beneficial.
Journal of Medical Genetics · 1981 · 25 citations · open access
Multiple pterygium syndrome.
AbstractThe multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. We present two unrelated patients of 17 and 6 years of age, respectively, affected with this condition. We describe the natural history of their disorder since birth and review the spectrum of phenotypic variation of the multiple pterygium syndrome in 25 published cases.
Epidemiology and Associated Morbidity of Pterygium: A Large, Community-Based Case-Control Study
AbstractBACKGROUND: To evaluate the prevalence and risk factors of various conditions among patients with pterygium. METHODS: A retrospective observational case control study of 4,037 patients who were diagnosed with pterygium in the Central District of Clalit Health Services in Israel from 2000-2009. A total of 16,054 randomly selected controls from the district HMO members. Personal, medical, and demographic information were extracted from patients' files. We calculated the prevalence of various ocular, systemic, and demographic conditions as risk factors for pterygium. RESULTS: The average age of pterygium patients was 58.4 ± 14 years; 56.9% were male. A significant tendency to develop pterygium was found among individuals of lower socioeconomic status (p < 0.001) and in populations living in rural areas (p < 0.001). A logistic regression model adjusted to marital status, socio-economic class, and area of living was performed. The following conditions were significantly associated with pterygium: blepharitis (OR = 1.71; 99.9% CI: 1.53-1.93), chalazia (OR = 1.46; 99.9% CI: (1.19-1.78)), anxiety (OR = 1.14, 99.9% CI: 0.98-1.33), and G6PD deficiency (OR = 1.85; 99.9% CI: 1.11-3.07). Schizophrenia (OR 0.31; 99.9% CI: 0.19-0.50) and smoking (OR 0.82; 99.9% CI: 0.76-0.89) were significantly less prevalent among pterygium patients. CONCLUSIONS: Pterygium etiology is multifactorial. Some demographic, systemic, and periocular conditions are significantly more prevalent and some are less prevalent among pterygium patients. Better understanding of the pathophysiological association between those diseases and pterygium may help in its prevention and treatment.
AbstractMultiple pterygium syndrome is a rare, inherited disorder manifested by growth retardation, facial or genital anomalies, and widespread musculoskeletal deformities. Pterygia are the predominant hallmark of the syndrome. Five children with multiple pterygium syndrome were treated from 1978 to 1987. Treatment involved both upper and lower pterygia and contractures. The results of treatment and modalities used are discussed and a protocol suggested.
Egyptian Journal of Medical Human Genetics · 2011 · 3 citations · open access
Multiple pterygium syndrome with marked pterygia of the fingers and MRI changes in the spine
AbstractWe report a two years old Egyptian girl, the first birth of consanguineous marriage with clinical findings consistent with the diagnosis of the autosomal recessive multiple pterygium syndrome (Escobar) (growth retardation, craniofacial dysmorphism, multiple pterygia, kyphoscoliosis, multiple joint contractures especially affecting the lower limbs). What characterizes out patient was the extensive pterygia of the fingers which kept them permanently flexed, while they were very mild in the neck, axillary folds and knee joints. Our patient suffered also from mental retardation although mentality is commonly reported to be normal in this syndrome. MRI of the spine revealed widened spinal canal and engorged intraspinal vessels, which were not reported before.
Key Clinical and Histopathological Features of a Pterygium-Like Induced Lesion in a Rabbit Model
AbstractPurpose: Surgery is the definitive treatment for pterygium; therefore, reliable animal models are required for translational research. The goal of this investigation was to establish a standardized preclinical model of pterygium-like lesion. Methods: A subconjunctival injection of fibroblasts (NIH3T3) and extracellular matrix was administered to 22 New Zealand rabbits. Clinical evaluation was assessed at different points, the severity of the lesion was scored according to four grades and correlated with the area of hyperemia and the histopathological findings on day 23. Results: Thirteen of 22 eyes (60%) developed pterygium-like lesions after 7 days and progressed through different grades. Initially, grade 3, characterized by an elevated and fleshiness conjunctiva with tortuous hyperemia, was evident on day 7. By day 15, lesion decreased to grade 2, with less elevation and hyperemia. Subsequent improvement was noted, with grade 1 on day 18. Finally, day 23 was marked by a white‒yellow lesion, classified as grade 4. The area of hyperemia increased from grade 2 to grade 3 (P < 0.05) and decreased from grade 3 to grade 4 (P ≤ 0.05). Histopathological analysis revealed a tendency toward increasing inflammation at grades 2, 3, and 4. There was a correlation between clinical features and the degree of inflammation. Conclusions: Subconjunctival injection of NIH3T3 and extracellular matrix induces a pterygium-like lesion that progresses across four grades, beginning with an acute inflammatory process that evolve a chronic form. This study provides a replicable model for simulating pterygium. Translational Relevance: The development of a standardized preclinical model of pterygium to evaluate new pharmacological or surgical treatments.
AbstractThe multiple pterygium syndrome is a rare condition which consists of pterygia of neck, antecubital, digital, popliteal, and intercrual areas, growth retardation, peculiar facies, foot deformities, multiple joint contractures, vertebral anomalies.Here we report a 9-year-old boy with multiple pterygium syndrome.This case is a sporadic type because of mild symptom and no evidence in his family history.We emphasize that it is important to have in mind multiple pterygium syndrome in clinical examination.
AbstractMultiple pterygium syndrome is a distinct syndrome consisting of a constellation of congenital anomalies characterized by pterygia of the neck, antecubital, popliteal and intercrural areas, numerous flexion contractures of the joints, growth retardation, ptosis, antimongoloid slant with or without epicanthal folds, cleft palate, scoliosis, vertebral anomalies, rocker bottom deformity of the feet, and genital anomalies.
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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