DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Leber congenital amaurosis 8 — 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 moduleLeber congenital amaurosis 8 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 leber congenital amaurosis 8 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 2000 study of 100 consecutive Leber congenital amaurosis patients, mutations were identified in only 11% of the cohort. GUCY2D mutations accounted for 6%, RPE65 for 3%, and CRX for 2%. The clinical presentation was variable: patients with GUCY2D and CRX mutations had stable visual evolution, while those with RPE65 mutations showed progressive visual loss. The authors concluded that molecular diagnosis could provide information about prognosis and course of treatment.
A 2017 case report described a girl followed from age 4 to 11 with nyctalopia, myopia, and choroid fundus changes, whose electroretinogram was not measurable in all phases. Diagnosis was confirmed by RPE65 mutation genetic testing. The report noted that RPE65 Leber congenital amaurosis had been researched for gene therapy with good functional outcomes up to that point.
A 2024 PDF document described Leber congenital amaurosis as a heterogeneous genetic disorder characterised by severe vision loss at birth, accounting for 3% to 5% of congenital blindness cases. It stated that some patients show only retinal blindness while others show evidence of multisystem involvement.
No randomised controlled trial data for any drug or gene therapy in Leber congenital amaurosis 8 were provided in these abstracts. What is missing is a completed phase 3 trial with long-term visual function endpoints, adequate funding for such a trial, and a strategy for stratifying patients by specific RPE65 mutation type and baseline retinal structure.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Ophthalmic Genetics · 2000 · 111 citations
Mutational analysis and clinical correlation in Leber congenital amaurosis
AbstractUNLABELLED: Leber congenital amaurosis (LCA, MIM 204001) is a clinically and genetically heterogeneous retinal disorder characterized by severe visual loss from birth, nystagmus, poor pupillary reflexes, retinal pigmentary or atrophic changes, and a markedly diminished electroretinogram (ERG). PURPOSE: To examine 100 consecutive patients with LCA in order to assess the relative burden of the three known genes involved in LCA, namely retinal guanylyl cyclase (GUCY2D), retinal pigment epithelium protein ( RPE65), and the cone-rod homeobox (CRX), and to define their clinical correlates. METHODS: Mutational analysis and detailed clinical examinations were performed in patients diagnosed with LCA at the Johns Hopkins Center for Hereditary Eye Diseases and the Montreal Children's Hospital. RESULTS: Mutations were identified in 11% of our patients: GUCY2D mutations accounted for 6%, while RPE65 and CRX gene mutations accounted for 3% and 2%, respectively. The clinical presentation was variable; however, the visual evolution in patients with mutations in GUCY2D and CRX remained stable, while individuals with mutations in the RPE65 gene showed progressive visual loss. CONCLUSIONS: This study suggests that molecular diagnosis of Leber congenital amaurosis could provide important information concerning prognosis and course of treatment.
Gaceta Médica de México · 2017 · 1 citations · open access
Amaurosis congénita de Leber RPE-65, seguimiento a 7 años
AbstractLeber congenital amaurosis is a retinal dystrophy with several forms of presentation due to its genetic variability. Case of a female girl followed up from 4 to 11 years old is presented, with positive clinical data of nyctalopia, myopia and choroid ocular fundus. Electroretinogram was not measurable in all phases but diagnostic was confirmed by RPE65 mutation genetic study. RPE65 Leber congenital amaurosis is particularly important as it has been researched for a gene therapy treatment with good functional outcomes up to now, awaiting to offer hope and a better quality of life to people with this disease.
Zenodo (CERN European Organization for Nuclear Research) · 2024 · 0 citations · open access
amaurosis congénita de leber pdf
Abstractamaurosis congénita de leber pdf Rating: 4.9 / 5 (2978 votes) Downloads: 46407 = = = = = CLICK HERE TO DOWNLOAD = = = = = It usually presents in the first few Leber's congenital amaurosis is an heterogeneous and genetic clinical disorder characterized by severe loss of vision at birth. Nystagmus by agemonths, characterized as La amaurosis congénita de Leber es un desorden clínico, genético y heterogéneo caracterizado por una severa pérdida de la visión al nacimiento. Se presenta en una% de los casos de cegue ra congénita. Leber congenital amaurosis (LCA) is a congenital retinal dystrophy that results in significant and often severe vision loss at an early age. Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). History The initial description of LCAwas made by Dr. Theodore Leber in in his work titledBUeber Retinitis pigmentosa und angeborene Amaurose^ (BOn Retinitis pigmentosa and congenital amaurosis Background. It usually presents in the first few years of life, most often before the , ·Citations. Algunos pacientes muestran solamente ceguera de origen retinal mostrando evidencia de un involucro multisistémico Among the diverse phenotypes and genotypes within IRDs, Leber's congenital amaurosis (LCA) is one of the earliest and most severe forms of IRDs. It accounts for| Find, RESUMEN. Leber's congenital amaurosis is an heterogeneous and genetic clinical disorder characterized by severe loss of vision at birth. Comprehensive analysis of the genetic mutations and phenotypic correlations in LCA patients has allowed for significant improvements in understanding molecular pathways of photoreceptor Abstract. It accounts forto% of congenital La amaurosis congénita de Leber es un desorden clínico, genético y heterogéneo caracterizado por una severa pérdida de la visión al nacimiento. Se Pupils that dilate in response to light. La amaurosis congénita de Leber es un desorden clínico, genético y heterogéneo caracterizado por una severa pérdida de la visión al nacimiento. Se presenta en una% de los casos de cegue-ra congénita. In, Dr. Theodore Leber first described severe visual impairment in infants with nystagmus and poor pupillary light reflex, which were recognized as typical presentations of the later-named LCA Disease definition. , · PDF Leber's congenital amaurosis is an heterogeneous and genetic clinical disorder characterized by severe loss of vision at birth. La amaurosis congénita de Leber es un desorden clínico, genético y heterogéneo caracterizado por una severa pérdida de la visión al nacimiento. is an age-related variant of RP Presents with: Severe ↓ VA in the/ – LP range. It accounts forto% of congenital Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogramEspañol Semantic Scholar extracted view of "Amaurosis congénita de Leber: Reporte de caso" by Elizabeth Quintino Cintora et al{CintoraAmaurosisCD, title={Amaurosis L'amaurose congénitale de Leber Cette fiche assemble des infomations susceptibles d'aide les p ofessionnels du handicap dans leu tavail d'évaluation et d'accompagnement des RESUMEN. Algunos pacientes muestran solamente ceguera de origen retinal mostrando evidencia de un involucro multisistémico Genetic Counseling for Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy Genetic counseling is the process of providing individuals and families with information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them make informed medical and personal isions Abstract and Figures. ORPHA Classification level: Disorder Leber's congenital amaurosis (LCA), a disorder that has been linkedtoRPsinceitsinception,andissometimeserroneously included within its spectrum. Se presenta en una Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
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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