DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Niemann-Pick disease type B — 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 B 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 b 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
programmed cell death 1 (PDCD1) — PDCD1 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 9Q8L · 1.85 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
In a 2008 cross-sectional survey of 59 patients with Niemann-Pick disease type B (median age 17.6 years, 92% white, 53% male), the most common initial presentations were splenomegaly (78%) and hepatomegaly (73%). Frequent symptoms included bleeding (49%), pulmonary infections and shortness of breath (42% each), and joint or limb pain (39%). Growth was markedly delayed during adolescence. Nearly all patients had documented splenomegaly, hepatomegaly, and interstitial lung disease. Restrictive lung physiology with impaired gas exchange and decreased maximal exercise tolerance were common. Quality of life was only mildly decreased on standardised questionnaires. The degree of splenomegaly correlated with most aspects of disease, including hepatomegaly, growth, lipid profile, haematologic parameters, and pulmonary function.
Laboratory findings commonly included low platelet counts and low high-density lipoprotein, with elevated low-density lipoprotein, very-low-density lipoprotein, triglycerides, leukocyte sphingomyelin, and serum chitotriosidase, alongside abnormal liver function tests. The R608del mutation accounted for 25% of all disease alleles. A 1990 report noted hyperlipidaemia as a complication of Niemann-Pick type B disease. A 2009 review of imaging manifestations described the disease as multisystem, affecting pulmonary, cardiovascular, abdominal, and skeletal systems, and noted that cross-sectional imaging findings can be highly suggestive when seen in combination.
The 2008 study identified spleen volume as a potentially useful surrogate end point for future treatment trials because of its correlation with disease severity, and suggested that biomarkers such as chitotriosidase might play a role in monitoring treatment responses. No treatment was tested in any of these studies. What remains missing are prospective treatment trials with sufficient funding, validated endpoints beyond spleen volume, and patient stratification by genetic mutation and disease severity to account for the clinical variability documented here.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
PEDIATRICS · 2008 · 207 citations · open access
A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B
AbstractOBJECTIVE: The objective of this study was to characterize the clinical features of patients with Niemann-Pick disease type B and to identify efficacy end points for future clinical trials of enzyme-replacement therapy. METHODS: Fifty-nine patients who had Niemann-Pick disease type B, were at least 6 years of age, and manifested at least 2 disease symptoms participated in this multicenter, multinational, cross-sectional survey study. Medical histories; physical examinations; assessments of cardiorespiratory function, clinical laboratory data, and liver and spleen volumes; radiographic evaluation of the lungs and bone age; and quality-of-life assessments were obtained during a 2- to 3-day period. RESULTS: Fifty-three percent of the patients were male, 92% were white, and the median age was 17.6 years. The R608del mutation accounted for 25% of all disease alleles. Most patients initially presented with splenomegaly (78%) or hepatomegaly (73%). Frequent symptoms included bleeding (49%), pulmonary infections and shortness of breath (42% each), and joint/limb pain (39%). Growth was markedly delayed during adolescence. Patients commonly had low levels of platelets and high-density lipoprotein, elevated levels of low-density lipoprotein, very-low-density lipoprotein, triglycerides, leukocyte sphingomyelin, and serum chitotriosidase, and abnormal liver function test results. Nearly all patients had documented splenomegaly and hepatomegaly and interstitial lung disease. Patients commonly showed restrictive lung disease physiology with impaired pulmonary gas exchange and decreased maximal exercise tolerance. Quality of life was only mildly decreased by standardized questionnaires. The degree of splenomegaly correlated with most aspects of disease, including hepatomegaly, growth, lipid profile, hematologic parameters, and pulmonary function. CONCLUSIONS: This study documents the multisystem involvement and clinical variability of Niemann-Pick B disease. Several efficacy end points were identified for future clinical treatment studies. Because of its correlation with disease severity, spleen volume may be a useful surrogate end point in treatment trials, whereas biomarkers such as chitotriosidase also may play a role in monitoring patient treatment responses.
American Journal of Roentgenology · 2009 · 42 citations
Imaging Manifestations of Niemann-Pick Disease Type B
AbstractOBJECTIVE: The purpose of this article is to illustrate the various imaging manifestations of Niemann-Pick disease type B using various imaging techniques emphasizing cross-sectional imaging. CONCLUSION: Niemann-Pick disease type B is a multisystem disease that affects the pulmonary, cardiovascular, abdominal, and skeletal systems. Cross-sectional imaging is well suited for detecting and assessing the various manifestations of this disease, which can be highly suggestive of the diagnosis when seen in combination.
. Hyperlipidemia as a Complication of Niemann-Pick Type B Disease
Abstract*Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders, t National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda Maryland. **Correspondence to: Michele R. Filling-Katz, MD, Bldg.103C103, Section on Genetic Studies, Laboratory of Clinical Investigations, N1AAA, NIH, Bethesda, Maryland 20892. Niemann-Pick Type B disease (NPB) is an autosomal
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.
