DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for Leber hereditary optic neuropathy — 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 moduleLeber hereditary optic neuropathy 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 leber hereditary optic neuropathy 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
Leber hereditary optic neuropathy is a maternally inherited mitochondrial disease that causes acute or subacute bilateral loss of vision, usually in otherwise healthy young people, most often young men. Almost all patients develop involvement of the second eye within months, resulting in severe irreversible binocular vision loss. No effective treatment has been established. A 2018 study of 66 patients classified by disease duration found that 82 eyes showed stable visual acuity over one year of follow-up, 33 eyes showed a decrease in visual acuity (24 of those in patients with disease for less than 24 months, nine in patients with disease for more than 24 months), and 17 eyes showed improvement (four in the less-than-24-month group, 13 in the more-than-24-month group). Visual acuity and visual field indices declined over the first 24 months from onset and appeared stable after 24 months. The authors concluded that most patients gradually stabilise with prolonged onset time, and that the low possibility of spontaneous recovery provides a basis for evaluating gene therapy.
Idebenone is a medicine given to patients with Leber hereditary optic neuropathy that reportedly improves or stops deterioration of vision, according to a 2021 review. The same review states there is no specific treatment for the condition and that increasing the number of patients treated and the duration of treatment will be needed to answer whether the drug is effective and safe in a larger group. Gene therapy is described as the most promising approach in a 2018 paper, and one experimental treatment method is undergoing clinical trial as of 2018. The three common mitochondrial DNA mutations that cause the disease are known, but scientific advances into molecular pathogenesis have been hampered by the lack of an animal model.
What is still missing is a reliable animal model for the disease, which has limited understanding of molecular pathogenesis. Larger, longer trials are needed to determine whether idebenone is truly effective and safe beyond the small groups studied so far. The possibility of spontaneous visual recovery in some patients, particularly after 24 months, complicates the interpretation of any treatment effect, and proper patient stratification by disease duration and mutation type has not been consistently applied in published studies.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Seminars in Ophthalmology · 2008 · 10 citations
The Genetics of Leber Hereditary Optic Neuropathy—Prototype of an Inherited Optic Neuropathy with Mitochondrial Dysfunction
AbstractLeber Hereditary Optic Neuropathy is a maternally inherited condition that is characterized by acute or subacute bilateral loss of vision, usually in otherwise healthy young individuals. Several point mutations in the mitochondrial genome have been identified in patients with the condition. Scientific advances into a better understanding of the molecular pathogenesis have been hampered by the lack of an animal model for the disease. This article summarizes what is known about the clinical features, epidemiology and genetics of Leber Hereditary Optic Neuropathy and reviews recent experiments scientists have used in addressing the many unanswered questions that remain about the disease.
Clinical Observation of Patients with Leber’s Hereditary Optic Neuropathy Before Gene Therapy
AbstractBACKGROUND: Leber's hereditary optic neuropathy is a hereditary mitochondrial disease. No effective treatment has so far been established, with gene therapy currently being the most promising. Because of the possibility of spontaneous visual acuity recovery in this disease, we screened patients before gene therapy, excluding those with spontaneous visual acuity improvement, and prepared for the subsequent gene therapy. OBJECTIVE: To clinically observe the course of Leber's hereditary optic neuropathy for 6 months prior to gene therapy. METHODS: Sixty-six patients with Leber's hereditary optic neuropathy were enrolled in the study. Patients were classified based on the duration of disease: less than 24 months and over 24 months. Three clinical follow-up examinations were conducted over 1 year. We assessed intraocular pressure, visual acuity, visual field, retinal nerve fiber layer thickness, fundus photographs, and visual evoked potential. RESULTS: Eighty-two eyes displayed stable visual acuity, including both eyes in 34 patients and one eye in 14 patients; 33 eyes of 22 patients displayed decrease in visual acuity (less than 24 months: 24 eyes; over 24 months: nine eyes); and 17 eyes of 12 patients showed improvement in visual acuity (less than 24 months: four eyes; over 24 months: 13 eyes). Visual acuity and visual field indices decreased over 24 months from disease onset and appeared stable after 24 months. CONCLUSION: Most patients with Leber's hereditary optic neuropathy gradually stabilize visual function with prolonged onset time, and the lower possibility of spontaneous vision recovery provides a basis for future evaluation of the effectiveness of gene therapy.
Russian Annals of Ophthalmology · 2018 · 3 citations · open access
Leber hereditary optic neuropathy
AbstractLeber hereditary optic neuropathy is characterized by bilateral, painless loss of vision in children and young adults (generally up to 25 years old). Since its first description in 1871, the understanding of its etiology and pathogenesis has improved considerably. The article considers Leber neuropathy from the points of view of ophthalmology, neurology and molecular genetics, and presents data on experimental treatment methods, one of which is undergoing clinical trial.
AbstractLeber hereditary optic neuropathy in an important cause of acute painless monocular vision loss. It most often occurs in young men. Almost all patients develop fellow eye involvement within a few months, resulting in severe irreversible binocular vision loss. In this chapter, we begin by reviewing the differential diagnosis of acute optic neuropathy. We next discuss the genetic basis for Leber hereditary optic neuropathy and list the three common mitochondrial DNA mutations that cause it. We then review the clinical features and natural history of Leber hereditary optic neuropathy. Lastly, we discuss the treatment approach for this condition and review promising treatment options.
OphthaTherapy Therapies in Ophthalmology · 2021 · 0 citations · open access
Idebenone – a new drug for patients with Leber's hereditary optic neuropathy
AbstractLeber's Hereditary Optic Neuropathy is a rare disease caused by a mutation in the mitochondrial DNA. It appears most often in young men, leading to profound, permanent loss of vision in a short time. There is no specific treatment for this condition.Idebenone is a medicine that administered to patients with Leber's hereditary optic neuropathy improves or stops the deterioration of vision. Increasing the number of people during therapy and the duration of treatment will allow in the future to answer the question, whether this drug is effective and safe in a larger group of patients.
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.
