DeCure for Juvenile neuronal ceroid lipofuscinosis
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for juvenile neuronal ceroid lipofuscinosis — 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 moduleJuvenile neuronal ceroid lipofuscinosis 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 juvenile neuronal ceroid lipofuscinosis 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
tripeptidyl peptidase 1 (TPP1) — TPP1 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 3EDY · 1.85 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 1978 case report describes a child with juvenile-onset neuronal ceroid-lipofuscinosis who had no visual symptoms or retinal abnormalities; the neuronal lipopigment was histochemically and ultrastructurally similar to typical cases. The authors distinguish this atypical form from juvenile dystonic lipidosis.
A 2019 diffusion MR imaging study examined 14 children with juvenile neuronal ceroid lipofuscinosis (mean age 9.6 years, 10 boys) and 14 controls (mean age 11.2 years, 7 boys). Twelve patients had a follow-up scan (mean age 11.4 years). Graph theoretical analysis of structural brain connectivity networks found significant global and local network alterations in the disease group. Specifically, patients showed decreased local efficiency in the left supramarginal gyrus and temporal plane, and decreased strength in the right lingual gyrus. These alterations correlated with disease severity and with brain areas related to the symptomatology.
A 1978 clinical study of 13 patients with the juvenile type (Spielmeyer-Sjögren syndrome) examined them clinically, ophthalmologically, neurologically, and psychiatrically, with EEG, x-ray, brain scintigraphy, motor nerve conduction velocity, ERG, fundus photography, and electron microscopy of biopsies. No treatment or drug intervention is mentioned in any of these abstracts.
What is still missing: any controlled trial of a drug for juvenile neuronal ceroid lipofuscinosis, any evidence that any compound alters the disease course, and any patient stratification by genetic subtype or disease stage that might guide future therapy.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neurology · 1978 · 23 citations
Atypical neuronal ceroidlipofuscinosis
AbstractWe describe the clinical, pathologic, and ultrastructural findings in a case of juvenile onset neuronal ceroid-lipofuscinosis without visual symptoms or retinal abnormalities. The histochemical and ultrastructural characteristics of the neuronal lipopigment were similar to those in typical cases of neuronal ceroid-lipofuscinosis. Atypical neuronal ceroid-lipofuscinosis may be distinguished histochemically, ultrastructurally, and clinically from another disorder called juvenile dystonic lipidosis, with which it has been confused.
American Journal of Neuroradiology · 2019 · 8 citations · open access
Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis
AbstractBACKGROUND AND PURPOSE: We used diffusion MR imaging to investigate the structural brain connectivity networks in juvenile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease of childhood. Although changes in conventional MR imaging are typically not visually apparent in children aged <10 years, we previously found significant microstructural abnormalities by using diffusion MR imaging. Therefore, we hypothesized that the structural connectivity networks would also be affected in the disease. MATERIALS AND METHODS: We acquired diffusion MR imaging data from 14 children with juvenile neuronal ceroid lipofuscinosis (mean ± SD age, 9.6 ± 3.4 years; 10 boys) and 14 control subjects (mean ± SD age, 11.2 ± 2.3 years; 7 boys). A follow-up MR imaging was performed for 12 of the patients (mean ± SD age, 11.4 ± 3.2 years; 8 boys). We used graph theoretical analysis to investigate the global and local properties of the structural brain connectivity networks reconstructed with constrained spherical deconvolution-based whole-brain probabilistic tractography. RESULTS: < .0003) decreased local efficiency in the left supramarginal gyrus and temporal plane, and decreased strength in the right lingual gyrus. CONCLUSIONS: We found significant global and local network alterations in juvenile neuronal ceroid lipofuscinosis that correlated with the disease severity and in areas related to the symptomatology.
Juvenile Type of Generalized Ceroid-Lipofuscinosis (Spielmeyer-Sjögren Syndrome) – I. Clinical findings
AbstractThirteen patients with the clinical course of the juvenile type of generalized ceroid-lipofuscinosis were examined clinically, ophthalmologically, neurologically and psychiatrically. This included registration of EEG, x-ray, brain scintigraphy, motor nerve conduction velocity, ERG, fundus photography and bioptical investigations including electron microscopy.
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.
