DeCure for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 — screening already-approved drugs against its 6-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 maps to a 6-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 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a1 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
dystroglycan 1 (DAG1) — DAG1 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 udpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7E9K · 2.05 Å · ligand URIDINE-5'-DIPHOSPHATE (UDP). Experimental structure, not a prediction.
What the evidence adds up to
A 2001 case report describes a child with Muscle-Eye-Brain disease, one of three congenital muscular dystrophies with ocular abnormalities. The child had severe visual impairment from progressive myopia and retinal degeneration, a pachygyria-type brain migration disorder with a cobblestone cortex, muscular weakness, and severe mental retardation. The report concludes that ophthalmological assessments are important for diagnosis and follow-up.
A 2001 review notes that congenital muscular dystrophies are a heterogeneous group with weakness and dystrophic muscle biopsy present at birth or in the first months. It lists common forms including laminin α-2 deficiency, Ullrich congenital muscular dystrophy, fukutin-related proteinopathy, rigid spine syndrome, and glycosylation disorders of α-dystroglycan. The latter group is often associated with neuronal migration defects, lissencephaly, pachygyria, cerebellar and brainstem abnormalities, and variable ocular anomalies. The review states there are still no curative treatment options, and recommends regular follow-up and symptomatic care by a multidisciplinary team.
A 2013 review states that alpha-dystroglycanopathies show a broad clinical spectrum from mild limb girdle to severe congenital muscular dystrophy with brain and eye abnormalities. Mutations in nine genes are known to lead to defective glycosylation of α-dystroglycan: FKTN, LARGE, FKRP, POMT1, POMT2, POMGnT1, DPM3, DPM2, WWP1, ISPD, or the gene encoding α-dystroglycan, DAG1. A 2002 paper notes that post-translational disruption of dystroglycan-ligand interactions occurs in congenital muscular dystrophies, and that deletion of brain dystroglycan recapitulates aspects of the disease.
No drug treatment is tested or mentioned in any of these abstracts. What is still missing is any clinical trial of a pharmacological intervention, any funding for such a trial, and any patient stratification strategy that might identify a subgroup responsive to a specific 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.
AbstractPURPOSE: To describe a child with Muscle-Eye-Brain disease (MEB), one of three types of congenital muscular dystrophy associated with ocular abnormalities. METHODS: Case report. RESULTS: The child showed severe visual impairment due to progressive myopia and retinal degeneration, a pachygyria-type of migration disorder of the brain with a nodular cortical surface, i.e. cobblestone cortex, as well as muscular weakness and severe mental retardation. CONCLUSION: Ophthalmological assessments are important to help to diagnose and follow children with congenital muscular dystrophy.
Handbook of clinical neurology · 2001 · 0 citations
Towards a Flexible information Retrieval Approach based on the Context
AbstractThe congenital muscular dystrophies are a heterogeneous group of disorders in which weakness and dystrophic pattern on muscle biopsy are present at birth or during the first months of life. This chapter reviews the most common forms of congenital muscular dystrophies, including laminin α-2 (merosin) deficiency, Ullrich congenital muscular dystrophy, fukutin-related proteinopathy, rigid spine syndrome, and glycosylation disorders of α-dystroglycan. The latter group is often associated with neuronal migration defects including lissencephaly, pachygyria, cerebellar and brainstem abnormalities, and variable ocular anomalies. Typical clinical findings and underlying genetic defects are discussed to assist in the differential diagnosis and diagnostic work-up of patients with congenital muscular dystrophies. There are still no curative treatment options for patients with congenital muscular dystrophies but regular follow-up and symptomatic care by a multidisciplinary team considering the peculiarities of each disorder are important to maintain or improve patients' quality of life.
Alpha-dystroglycanopathies: Clinical and genetic variability
AbstractAims: Alpha-dystroglycanopathies show a broad clinical spectrum from mild limb girdle to severe congenital muscular dystrophy with brain and eye abnormalities. Currently, mutations in nine genes are known which lead to defective glycosylation of α-dystroglycan: FKTN, LARGE, FKRP, POMT1, POMT2, POMGnT1, DPM3, DPM2, WWP1, ISPD or encodes α-dystroglycan, DAG1.
Science of Aging Knowledge Environment · 2002 · 0 citations
Other Noteworthy Papers This Week
AbstractD. E. Michele, R. Barresi, M. Kanagawa, F. Saito, R. D. Cohn, J. S. Satz, J. Dollar, I. Nishino, R. I. Kelley, H. Somer, V. Straub, K. D. Mathews, S. A. Moore, K. P. Campbell, Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418 , 417-422 (2002). [Abstract] [Full Text] S. A. Moore, F. Saito, J. Chen, D. E. Michele, M. D. Henry, A. Messing, R. D. Cohn, S. E. Ross-Barta, S. Westra, R. A. Williamson, T. Hoshi, K. P. Campbell, Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418 , 422-425 (2002). [Abstract] [Full Text]
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.
