DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for optic atrophy 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 moduleOptic atrophy 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 optic atrophy 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.
Molecular view
WD repeat domain 45 (WDR45) — WDR45 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8KBX · 3.23 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 2015 case report describes a 47-year-old man with progressive visual loss and optic atrophy who was later found to have 62 CAG repeats in the DRPLA gene and diagnosed with Dentatorubropallidoluysian atrophy. Brain MRI showed diffuse leukoencephalopathy. The authors conclude that optic atrophy should be included in the clinical spectrum of DRPLA. This is a single case, not a trial.
A separate 2015 retrospective review of 104 patients with nonglaucomatous optic atrophy in Benin City found that in 47 patients (45.2%) the cause was unknown. Among known causes, chorioretinal disease accounted for 24 cases (23.1%), trauma for 14 (13.5%), toxic-nutritional factors for 8 (7.7%), and compressive lesions for 5 (4.8%). Ages ranged from 16 to 83 years, mean 49.2 years. This study does not address any drug treatment.
A 2019 review of non-OPA1 genetic causes of dominant optic atrophy notes that OPA1 mutations are the most common known cause, but that dominant optic atrophy is genetically heterogeneous and often part of syndromic neurodegenerative disease. The review does not report any clinical trial or treatment outcome.
No abstract in this set tests a drug for optic atrophy. What is missing is any clinical trial of a repurposed drug for this condition, any patient stratification by genetic subtype, and any funding for such a trial.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
BMC Neurology · 2015 · 9 citations · open access
Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA)
AbstractBACKGROUND: Dentatorubropallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disease that is associated with numerous movement disorders. Ocular problems also occur with DRPLA with reports of corneal endothelial degeneration in some patients living with the disease. We report a new visual problem associated with DRPLA, optic atrophy. CASE PRESENTATION: A 47 year-old man presented complaining of progressive visual loss associated with optic atrophy on ophthalmological evaluation. He gradually developed a progressive ataxia with dystonia. Brain MRI revealed a diffuse leukoencephalopathy. Genetic analysis revealed 62 CAG repeats in one allele of the DRPLA gene and he was diagnosed with DRPLA. CONCLUSION: Optic atrophy should be included in the clinical spectrum of DRPLA.
AbstractCONTEXT: Optic atrophy is a clinical sign and not a disease. The etiology of optic atrophy is diverse, some of which may be life threatening. PATIENTS AND METHODS: A retrospective review of the medical records of all adult patients aged 16 years and above with nonglaucomatous optic atrophy at the eye clinic of the University of Benin Teaching Hospital over a 4-year period was conducted. RESULTS: One hundred and four patients had nonglaucomatous optic atrophy. There were 58 males and 46 females with a male:female of 1.3:1. Their ages ranged from 16 to 83 years with a mean age of 49.2 ± 17.74 years. Majority (75%) of the patients were in the age range of 31-70 years. One hundred and fifty-seven eyes were affected with bilateral involvement in 53 patients. The etiology was unknown in 47 (45.2%) patients. Choriodoretinal disease 24 (23.1%), trauma 14 (13.5%), toxic-nutritional 8 (7.7%) and compressive lesions 5 (4.8%) were the most common among the known etiologies. CONCLUSION: Optic atrophy is the end result of injury to the anterior visual pathway from a myriad of disease processes. A broad knowledge of the etiology of optic atrophy is needed to make a diagnosis .
Non‐OPA1 genetic causes of dominant optic atrophies
AbstractAbstract Dominant optic atrophy (DOA) is one of the most common forms of inherited optic nerve disease. The prevalence of DOA has been estimated to range from 1:16 000–1:50 000 in different populations. Clinical expression of DOA is highly variable and reduced penetrance is rather common which may hamper to establish the proper mode of inheritance. Dominant optic atrophy is a genetically heterogeneous condition with mutations in the OPA1 gene being by far the most common cause of DOA. Yet the knowledge about other genetic causes of DOA is still limited and sometimes equivocally. In recent years it became apparent that ‐ in term of its genetic basis ‐ DOA is just part of a continuous spectrum of syndromic neurodegenerative disease in many of which optic atrophy is only one clinical feature. Notably, the vast majority of the involved genes encode for proteins which are imported into mitochondria and exert diverse biological functions therein. In this presentation, I will give an overview on the current knowledge of non‐OPA1 genetic causes of dominant optic atrophies and the potential molecular mechanisms underlying the clinical outcome as DOA or syndromic neurodegenerative disease.
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.
