DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for ptosis, hereditary congenital, 1 — 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 modulePtosis, hereditary congenital, 1 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 ptosis, hereditary congenital, 1 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
In a 2002 study of 77 patients with congenital ptosis (98 ptotic eyes, 56 unilateral and 21 bilateral cases), amblyopia was found in 65.3% (n=64) and strabismus in 29.9% (n=23). Astigmatism of 1 dioptre or more was present in 63.3% (n=62), hyperopia of 3 dioptres or more in 28.6% (n=28), and anisometropia in 27.3% (n=21). In unilateral simple ptosis, astigmatism was also found in 26.8% of fellow eyes. The subgroups with motility disorders had higher rates of strabismus and amblyopia. The authors concluded that subgroups of congenital ptosis differ in the frequency of amblyogenic factors, and that in unilateral ptosis these factors are also frequent in the fellow eye.
A 2001 study of a single pedigree with bilateral symmetrical congenital isolated ptosis reported that the condition was linked to genetic markers on the X chromosome and exhibited X linked dominant inheritance. The authors characterised this as a new ophthalmic condition: X linked dominant congenital isolated bilateral ptosis. No numbers of affected individuals or response rates were given beyond the description of the pedigree.
A 1972 study of a different pedigree reported that 49 of 96 individuals were affected by congenital ptosis, with bilateral ptosis in 92% of those involved. Five skip generations were observed, all mediated through the female lineage, a finding the authors said had not been reported with this frequency before. The authors proposed a new classification of congenital ptosis into sporadic and genetic subgroups.
No drug treatment is mentioned in any of these abstracts. What is missing for hereditary congenital ptosis is not a drug but rather a systematic prospective study that stratifies patients by genetic subtype and tracks refractive and amblyopia outcomes over time, along with funding for such natural history work and for trials of early optical intervention in genetically defined groups.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Klinische Monatsblätter für Augenheilkunde · 2002 · 8 citations
Kongenitale Ptosis: Refraktionsfehler, Amblyopie und Störungen des Binokularsehens der einzelnen Ptosisformen - Befunde von 77 Patienten und Literaturübersicht -
AbstractBACKGROUND: Former reports on amblyogenic refractive errors, amblyopia and binocular vision in congenital ptosis usually comprise all forms of ptosis without any differentiation. This study is an analysis of different kinds of ptosis. PATIENTS AND METHODS: 154 eyes (98 ptotic eyes) of 77 patients with congenital ptosis aged > or = 1 year (56 unilateral ptoses: 45 simple, 1 with rectus superior paresis, 7 with Marcus Gunn's syndrome, 2 congenital oculomotor palsies, 1 unilateral fibrosis syndrome; 21 bilateral ptoses: 10 simple, 2 with bilateral double elevator paresis, 7 blepharophimosis syndromes and 2 bilateral fibrosis syndromes) were investigated concerning visual acuity, refractive error (94 % in cycloplegy), strabismus and stereo acuity. As amblyogenic refractive errors were defined: astigmatism > or = ldpt, anisometropia > or = 1 dpt (spherical equivalent) and hyperopia > or = 3 dpt; amblyopia was defined as visual acuity less than 1.0 or a difference between both eyes of at least 0.2. RESULTS: Altogether were found: Hyperopia > or = 3 dpt in 28.6 % (n = 28); astigmatism > or = 1 dpt in 63.3 % (n = 62), anisometropia in 27.3 % (n = 21), amblyopia in 65.3 % (n = 64), strabismus in 29.9 % (n = 23) and stereopsis in 76.6 % (n = 59). In unilateral simple ptosis, astigmatism of the fellow eye was found in 26.8 % (n = 14). In unilateral ptosis, esotropia was 21.4 % (n = 12), in bilateral ptosis, exotropia 19 % (n = 4), as well as astigmatism > or = 3 dpt 26.2 % (n = 11). As was to be expected, ptosis groups with motility disorders were associated with higher rates of strabismus and amblyopia. The blepharophimosis syndrome could be differentiated by the typical lid anomalies. CONCLUSION: The subgroups of congenital ptosis differ in frequency of amblyogenic factors. In unilateral ptosis these are also frequent in the fellow eye.
British Journal of Ophthalmology · 2001 · 7 citations · open access
X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition
AbstractAIMS: To characterise the inheritance of ptosis in one particular pedigree. METHODS: The pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the condition. RESULTS: Affected members of the pedigree have bilateral symmetrical congenital isolated ptosis, a condition which is linked to genetic markers on the X chromosome in this family. CONCLUSION: A pedigree with dominantly inherited congenital bilateral ptosis is presented. The pedigree exhibits X linked dominant inheritance. A new ophthalmic condition was thereby characterised-namely, X linked dominant congenital isolated bilateral ptosis.
Plastic & Reconstructive Surgery · 1972 · 1 citations
Congenital ptosis: a new pedigree and classification
AbstractA pedigree of congenital ptosis shows that 49 of 96 individuals were affected. Bilateral ptosis was present in 92% of those involved. There were five skip generations all mediated through the female lineage, a finding not reported with this frequency before in known pedigrees of congenital ptosis. A new classification of congenital ptosis is presented consisting of two subgroups, sporadic and genetic.
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.
