DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Niemann-Pick disease, type C2 — 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 moduleNiemann-Pick disease, type C2 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 niemann-pick disease, type c2 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
NPC intracellular cholesterol transporter 2 (NPC2) — NPC2 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 c3sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5KWY · 2.405 Å · ligand CHOLEST-5-EN-3-YL HYDROGEN SULFATE (C3S). Experimental structure, not a prediction.
What the evidence adds up to
A single patient with adult-onset Niemann-Pick type C (NPC) carried the mutations P1007 and I1061T in the NPC1 gene and presented with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining and various neuroimaging findings suggested a pathophysiological correlation with phenotype expression. This case expanded the clinical and genetic spectrum of adult-onset NPC disease. A separate clinical case described a 32-year-old female patient with adult-onset NPC, detailing the clinical syndrome and results of laboratory and instrumental studies that established the diagnosis and determined indications for pathogenetic therapy.
Approximately 95% of NPC cases are caused by mutations in the NPC1 gene, referred to as type C1. The most common symptoms include hepatomegaly, splenomegaly, prolonged neonatal jaundice, ataxia, clumsiness or frequent falls, dysphagia, gelastic cataplexy, myoclonus and deafness. Miglustat is described as the only disease-specific oral therapy approved to treat progressive neurological manifestation of NPC, and as a developed pathogenic substrate reduction therapy for NPC.
No controlled trial data, no survival statistics, and no response rates are reported in these abstracts. The evidence rests entirely on single case reports and a review. What is still missing is any systematic trial of miglustat or any other agent in adult-onset NPC2 specifically, as well as patient stratification by genotype and disease stage, and funding for such 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.
Movement Disorders · 2003 · 47 citations · open access
Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study
AbstractWe report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography perfusional, positron emission tomography metabolic, conventional magnetic resonance imaging, and magnetic resonance spectroscopy findings suggested a pathophysiological correlation with phenotype expression. This case expands the clinical and genetic spectrum of the rare adult-onset NPC disease phenotype.
DOAJ (DOAJ: Directory of Open Access Journals) · 2016 · 2 citations · open access
A clinical case of adult onset Niemann–Pick disease type C
AbstractThe paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease. There is information about developed pathogenic miglustat substrate reduction therapy for NPC. The authors describe their clinical case of adult-onset NPC in a 32-year-old female patient. The clinical syndrome and the results of laboratory and instrumental studies that could establish an accurate diagnosis and determine indications for pathogenetic therapy are given in detail.
International Journal of Advances in Nursing Management · 2017 · 0 citations · open access
Niemann-Pick Disease: The Genetic condition and Nursing Consideration
AbstractNiemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. There are three most common types of disease namely Niemann-Pick Types A, B and C. Niemann-Pick disease type C is an inherited condition in which the body cannot properly metabolize cholesterol and fats, resulting in an excess of these substances in the body. Approximately 95% of Niemann-Pick type C cases are caused by Genetic mutations in the NPC1 gene, referred to as type C1. The most common symptoms are, hepatomegaly, splenomegaly, prolonged neonatal jaundice, ataxia, clumsiness or frequent falls, dysphagia, gelastic cataplexy, myoclonus and deafness. Miglustat is the only disease-specific oral therapy approved to treat progressive neurological manifestation of NP-C.
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.
