DeCure for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 — 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 moduleMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 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 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a5 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
fukutin related protein (FKRP) — FKRP 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 cdpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6KAJ · 2.2249 Å · ligand CYTIDINE-5'-DIPHOSPHATE (CDP). Experimental structure, not a prediction.
What the evidence adds up to
In 2015, intrafamilial variability was reported in GMPPB-associated dystroglycanopathy, broadening the recognised phenotype. Dystroglycanopathies are defined by deficient O-mannosyl glycosylation of α-dystroglycan and are genetically, biochemically and clinically heterogeneous. By that time, 18 known genes were linked to forms of α-dystroglycan-related dystrophy, with severity ranging from a Walker-Warburg phenotype (severe brain malformations and hypotonia) to milder childhood- or adult-onset limb-girdle muscular dystrophy with or without intellectual disability. No specific numbers for survival or response rates are given in this abstract.
A 2001 review of congenital muscular dystrophies covered 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 including lissencephaly, pachygyria, cerebellar and brainstem abnormalities, and variable ocular anomalies. The review states plainly that there are still no curative treatment options for patients with congenital muscular dystrophies, and that regular follow-up and symptomatic care by a multidisciplinary team are important to maintain or improve quality of life.
A 2013 review of alpha-dystroglycanopathies notes a broad clinical spectrum from mild limb girdle to severe congenital muscular dystrophy with brain and eye abnormalities. At that time, mutations in nine genes were known to lead to defective glycosylation of α-dystroglycan: FKTN, LARGE, FKRP, POMT1, POMT2, POMGnT1, DPM3, DPM2, WWP1, ISPD, or the α-dystroglycan gene DAG1. No quantitative efficacy data are reported.
What is still missing for this specific type A5 congenital muscular dystrophy-dystroglycanopathy are curative treatments, dedicated clinical trials, and patient stratification strategies. The abstracts provide no drug intervention data, no survival statistics, and no response rates. The field remains at the stage of descriptive genetics and symptomatic care, with no funded or reported therapeutic trials for this particular genotype.
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 · 2015 · 19 citations · open access
Intrafamilial variability in <i>GMPPB</i> -associated dystroglycanopathy: Broadening of the phenotype
AbstractDystroglycanopathies are characterized by deficient O-mannosyl glycosylation of α-dystroglycan (αDG) and represent an expanding genetically, biochemically, and clinically heterogeneous group of muscular dystrophies. Currently, there are 18 known genes leading to forms of α-dystroglycan–related dystrophy (αDG-RD), ranging in severity from a Walker-Warburg phenotype with severe brain malformations and hypotonia to milder childhood- or adult-onset limb-girdle muscular dystrophy (LGMD) phenotypes with or without intellectual disability.1,2
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.
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.
