DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for patterned macular dystrophy 1 — 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 modulePatterned macular dystrophy 1 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 patterned macular dystrophy 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.
Molecular view
catenin alpha 1 (CTNNA1) — CTNNA1 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 adpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6UPV · 3.2 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.
What the evidence adds up to
In a Swedish family with Best vitelliform macular dystrophy, two distinct VMD2 mutations (Arg141His and Tyr29stop) were identified. Two family members carried one mutation in each VMD2 allele. These compound heterozygotes had an abnormal electro-oculogram and full-field electroretinography showed widespread degeneration with a prolonged implicit time in the cone 30-Hz flicker response. Multifocal electroretinography confirmed reduced central retinal function, and optical coherence tomography showed intraretinal fluid, swelling, and thickening of the outer retina-RPE-choroid complex. The authors described this as a previously unreported severe form of Best macular dystrophy. No treatment was tested.
Butterfly-shaped macular dystrophy was documented in two brothers from a family of eleven members. Over seven years of observation, progressive photoreceptor dysfunction was recorded, supported by electroretinography abnormalities. The authors concluded that butterfly-shaped macular dystrophy can be a chronic progressive disorder with secondary photoreceptor involvement. No intervention was studied.
Adult-onset foveomacular vitelliform dystrophy is described as a prevalent form of macular degeneration appearing between the fourth and sixth decades. The review notes that multimodal imaging has improved understanding of pathophysiology, and that gene therapy is considered a promising future option for monogenic forms. No clinical trial results are reported.
Stargardt macular dystrophy, the most prevalent inherited macular dystrophy, is caused by recessive mutations in ABCA4. The 2023 review lists completed, ongoing, and planned clinical trials of pharmacological, cellular, and genetic therapies, including approaches to replace the full 6.8 kb ABCA4 open reading frame. No specific efficacy data from those trials are given. Occult macular dystrophy is an inherited cone degeneration with decreased visual acuity despite a normal fundus appearance; the 2025 review summarises pathogenic genes and genetic features but reports no therapeutic results.
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 · 2006 · 79 citations
Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations in<i>VMD2</i>
AbstractPURPOSE: To characterize the phenotype of members of a Swedish family with Best macular dystrophy and two distinct mutations in VMD2. METHODS: Venous blood samples were obtained from six family members and screened for mutations in VMD2. Six individuals were examined clinically, four of whom were further investigated with full-field electroretinography (ERG), electro-oculography (EOG), multifocal electroretinography (mfERG), and optical coherence tomography (OCT). RESULTS: The VMD2 mutations resulting in Arg141His and Tyr29stop were identified in family members. Two individuals harbored both mutations, one mutation in each VMD2 allele. These two family members had an abnormal EOG and their full-field ERG demonstrated widespread degeneration with a prolonged implicit time in the cone 30-Hz flicker ERG. MfERG verified reduction of the central retinal function and OCT demonstrated intraretinal fluid, swelling, and thickening of the outer retina-RPE-choroid complex (ORCC). CONCLUSION: A previously undescribed severe form of Best macular dystrophy is associated with compound heterozygous mutations in VMD2.
British Journal of Ophthalmology · 2023 · 20 citations · open access
Stargardt macular dystrophy and therapeutic approaches
AbstractStargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence variants in the large ABCA4 gene (OMIM 601691). Major advances in understanding both the clinical and molecular features, as well as the underlying pathophysiology, have culminated in many completed, ongoing and planned human clinical trials of novel therapies. The aims of this concise review are to describe (1) the detailed phenotypic and genotypic characteristics of the disease, multimodal imaging findings, natural history of the disease, and pathogenesis, (2) the multiple avenues of research and therapeutic intervention, including pharmacological, cellular therapies and diverse types of genetic therapies that have either been investigated or are under investigation and (3) the exciting novel therapeutic approaches on the translational horizon that aim to treat STGD1 by replacing the entire 6.8 kb ABCA4 open reading frame.
Ophthalmic Paediatrics and Genetics · 1993 · 1 citations
Butterfly-shaped macular dystrophy
AbstractTwo brothers with butterfly-shaped macular dystrophy (BSMD) are reported. The anatomical and functional data were analyzed in 11 family members. Progressive photoreceptor dysfunction, supported by ERG abnormalities, was documented in both patients. The progression of the disease was observed over a period of seven years. The present observations emphasize that BSMD, at least in some cases, can be a chronic progressive disorder with secondary involvement of the photoreceptors.
Expert Review of Ophthalmology · 2018 · 1 citations
Diagnosis, management and future treatment options for adult-onset foveomacular vitelliform dystrophy
AbstractIntroduction: Adult-onset foveomacular vitelliform dystrophy is a prevalent form of macular degeneration and typically occurs between the fourth and sixth decades of life.Areas covered: A pubmed and medline search was performed using the relevant key words. Several variants of the term ‘adult-onset vitelliform macular dystrophy’ were searched in relation to different terms: ‘diagnosis’, ‘managment’ and ‘treatment’.Expert commentary: Multimodal diagnostic imaging methods such as autofluorescence, fluorescein angiography, indocyanine green angiography, structural spectral domain optical coherence tomography, and optical coherence tomography angiography have led to a better understanding of the pathophysiological features of macular diseases. Gene therapy is a promising future option for treating monogenic forms of adult-onset foveomacular vitelliform dystrophy.
[Advances in the molecular genetics of occult macular dystrophy].
AbstractOccult macular dystrophy is an inherited macular disorder associated with cone degeneration. The characteristic clinical feature is decreased visual acuity despite a normal fundus appearance on ophthalmoscopy. Optical coherence tomography, infrared reflectance imaging, visual field testing, and multifocal electroretinography may detect structural and functional abnormalities in the macular region. This article reviews the latest advances in both domestic and international research, summarizing the clinical characteristics, pathogenic genes, genetic features, and molecular mechanisms, aiming to enhance clinical understanding of the disease and provide insights for further research and therapeutic exploration.
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.
