DeCure for Cystic leukoencephalopathy without megalencephaly
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for cystic leukoencephalopathy without megalencephaly — 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 moduleCystic leukoencephalopathy without megalencephaly 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 cystic leukoencephalopathy without megalencephaly 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
ribonuclease T2 (RNASET2) — RNASET2 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 3T0O · 1.59 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare autosomal recessive neurodegenerative disorder first described in 1995. A 2013 case report describes a 5-year-old girl diagnosed with the disease. The report states that infantile-onset macrocephaly is characteristic, with head circumference sometimes 4 to 6 standard deviations above the mean. Almost all patients have seizures from an early age. The report notes that some patients have died in their second and third decades, though a few may live into the fourth decade.
A 2003 report describes a 41-year-old Japanese male with MLC. He presented at age 1 with macrocephaly, with slow progression after age 5. Seizures began at age 11, and he became completely bedridden at age 18. The report highlights long survival despite severe disability. A 2022 supplemental document mentions a study of 22 Egyptian children with MLC, but no clinical results or treatment outcomes are provided in the available text.
No drug treatments, interventions, or clinical trials are mentioned in any of these abstracts. There are no data on response rates, survival improvement, or any therapeutic effect. The natural history described is one of slow functional deterioration, with variable survival from childhood to the fourth decade.
What is missing is any evidence for a drug that modifies the disease course. No clinical trials, no repurposing candidates, no preclinical drug data appear in these reports. The field lacks prospective natural history studies with standardised outcome measures, any stratified patient cohorts for future trials, and the funding needed to move from description to intervention.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Nepalese Journal of Radiology · 2013 · 2 citations · open access
Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report
AbstractMegalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare disease first described by van der Knaap et al, in 1995. MLC is a relatively new entity of neurodegenerative disorder of autosomal recessive inheritance characterized by infantile onset macrocephaly, cerebral leucoencephalopathy, mild neurological symptoms and an extremely slow course of functional deterioration. The degree of macrocephaly is variable and can be as much as 4-6 SD above the mean. Almost all patients have seizures from an early age. Some patients have died in their 2nd and 3rd decades but few may live till fourth decade. We report a case of 5-year-old girl diagnosed to have this disease. Nepalese Journal of Radiology; Vol. 2; Issue 2; July-Dec. 2012; 76-80 DOI: http://dx.doi.org/10.3126/njr.v2i2.7691
INDIGO (University of Illinois at Chicago) · 2022 · 0 citations · open access
sj-docx-1-jcn-10.1177_08830738221078683 - Supplemental material for Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts
AbstractSupplemental material, sj-docx-1-jcn-10.1177_08830738221078683 for Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts by Abdelrahim A. Sadek, Mohammed A. Aladawy, Tarek M. M. Mansour, Mohamed F. Ibrahim, Montaser M. Mohamed, Eman F. Gad, Amr A. Othman, Hosny A. Ahmed, Abdin K. Kasim, Wael M. Wagdy, Mohamed H. T. Hasan and Elsayed Abdelkreem in Journal of Child Neurology
Galter Health Sciences Library, Northwestern University · 2003 · 0 citations · open access
Megalencephalic Cystic Leukoencephalopathy
AbstractA 41 year-old Japanese male diagnosed with megalencephalic leukoencephalopathy (MLC) with subcortical cysts (van der Knaap disease), presenting at 1 year of age with macrocephaly, slowly progressing after 5 years, seizures beginning at 11 years, completely bed ridden at 18 years, and with long survival, is reported from Tokyo Metropolitan Higashiyamato Medical Center for the Severely Disabled, Japan.
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.
