DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for mucopolysaccharidosis type 3C — 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 moduleMucopolysaccharidosis type 3C 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 mucopolysaccharidosis type 3c 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
heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) — HGSNAT 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 acodrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8JL3 · 2.59 Å · ligand ACETYL COENZYME *A (ACO). Experimental structure, not a prediction.
What the evidence adds up to
The four abstracts provided do not address mucopolysaccharidosis type 3C. They concern mucopolysaccharidosis type I, a different disease. The 2008 guidelines for MPS I recommend baseline neurologic, ophthalmologic, auditory, cardiac, respiratory, gastrointestinal, and musculoskeletal assessments, with monitoring every 6 to 12 months. Treatments listed are palliative/supportive care, hematopoietic stem cell transplantation, and enzyme replacement therapy. The authors note that transplantation carries higher risk but can preserve central nervous system function, while enzyme replacement cannot cross the blood-brain barrier.
The 2014 MPS I Registry analysis included 987 untreated patients. Median age at symptom onset ranged from 6 months (Hurler phenotype) to 5.3 years (Scheie). Median age at treatment initiation was 1.5 years for Hurler, 8.0 years for Hurler-Scheie, and 16.9 years for Scheie. Coarse facial features and corneal clouding were the most common symptoms across all phenotypes. The 2022 review article and the Bangladesh case report add no quantitative data on treatment outcomes.
For mucopolysaccharidosis type 3C specifically, these abstracts contain no information on any drug, any clinical trial, any survival or response rate, or any natural history data. What is missing is any study, any funding, any trial design, and any patient stratification for MPS 3C.
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 · 460 citations
Mucopolysaccharidosis I: Management and Treatment Guidelines
AbstractOBJECTIVE: Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (approximately 1 case per 100,000 live births), phenotypic heterogeneity, and limited therapeutic options. The availability of hematopoietic stem cell transplantation and the recent introduction of enzyme replacement therapy for mucopolysaccharidosis I necessitate the establishment of system-specific management guidelines for this condition. METHODS: Twelve international experts on mucopolysaccharidosis I met in January 2003 to draft management and treatment guidelines for mucopolysaccharidosis I. Initial guidelines were revised and updated in 2008, on the basis of additional clinical data and therapeutic advances. Recommendations are based on our extensive clinical experience and a review of the literature. RESULTS: All patients with mucopolysaccharidosis I should receive a comprehensive baseline evaluation, including neurologic, ophthalmologic, auditory, cardiac, respiratory, gastrointestinal, and musculoskeletal assessments, and should be monitored every 6 to 12 months with individualized specialty assessments, to monitor disease progression and effects of intervention. Patients are best treated by a multidisciplinary team. Treatments consist of palliative/supportive care, hematopoietic stem cell transplantation, and enzyme replacement therapy. The patient's age (>2 years or < or =2 years), predicted phenotype, and developmental quotient help define the risk/benefit profile for hematopoietic stem cell transplantation (higher risk but can preserve central nervous system function) versus enzyme replacement therapy (low risk but cannot cross the blood-brain barrier). CONCLUSION: We anticipate that provision of a standard of care for the treatment of patients with mucopolysaccharidosis I will optimize clinical outcomes and patients' quality of life.
Genetics in Medicine · 2014 · 173 citations · open access
The natural history of MPS I: global perspectives from the MPS I Registry
AbstractPURPOSE: In this study, we aimed to describe the natural history of mucopolysaccharidosis I. METHODS: Data from 1,046 patients who enrolled in the MPS I Registry as of August 2013 were available for descriptive analysis. Only data from untreated patients and data prior to treatment for patients who received treatment were considered. Age at symptom onset, diagnosis, and treatment initiation were examined by geographic region and phenotype (from most to least severe: Hurler, Hurler-Scheie, and Scheie). For each symptom, frequency and age at onset were examined. RESULTS: Natural history data were available for 987 patients. Most patients were from Europe (45.5%), followed by North America (34.8%), Latin America (17.3%), and Asia Pacific (2.4%). Phenotype distribution was 60.9% for Hurler, 23.0% for Hurler-Scheie, and 12.9% for Scheie (3.2% undetermined) syndromes. Median age at symptom onset for Hurler, Hurler-Scheie, and Scheie syndromes was 6 months, 1.5 years, and 5.3 years, respectively; median age at treatment initiation was 1.5 years, 8.0 years, and 16.9 years, respectively. Coarse facial features and corneal clouding were among the most common symptoms in all three phenotypes. CONCLUSION: A delay between symptom onset and treatment exists, especially in patients with attenuated mucopolysaccharidosis I. A better understanding of disease manifestations may help facilitate prompt diagnosis and treatment and improve patient outcomes.
Педиатрическая фармакология · 2022 · 2 citations · open access
Modern Approaches to the Management of Children with Mucopolysaccharidosis Type I
AbstractThis article presents modern data on epidemiology, etiology, and clinical manifestations of mucopolysaccharidosis (MPS) type I in children. MPS develops due to deficiency of particular lysosomal enzyme which determines the disease type. The article considers in details disease's pathogenesis and classification. Evidence-based approaches to diagnosis (differential diagnosis included) are covered, moreover, special attention is paid to pathogenetic, symptomatic, and surgical treatment of MPS.
Sage Journals Data · 2022 · 0 citations · open access
sj-pdf-1-imr-10.1177_03000605221106412 - Supplemental material for Limited diagnostic facilities impeding the therapeutic approach of Mucopolysaccharidosis in Bangladesh: a case report
AbstractSupplemental material, sj-pdf-1-imr-10.1177_03000605221106412 for Limited diagnostic facilities impeding the therapeutic approach of Mucopolysaccharidosis in Bangladesh: a case report by Orindom Shing Pulock, Susmita Dey Pinky and Syeda Humaida Hasan in Journal of International Medical Research
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.
