DeCure for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 — 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 moduleMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 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 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 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
tubulin folding cofactor E (TBCE) — TBCE 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 gdpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9M1M · 2.21 Å · ligand GUANOSINE-5'-DIPHOSPHATE (GDP). Experimental structure, not a prediction.
What the evidence adds up to
In a survey of 53 cases of muscular dystrophy, 21 were classified as congenital type. High incidences of myopia, weakness of the orbicularis oculi, lack of Bell’s reflex, and infrequent blinking were found in the congenital group. No pigmentary retinal degeneration was found, cataracts were rare, and optic nerve atrophy was seen in several congenital cases. The authors considered this to suggest that congenital muscular dystrophies involve the central nervous system with degenerative changes, not only a myogenic disorder.
Muscle–eye–brain disease is a rare autosomal recessive congenital muscular dystrophy characterised by abnormal glycosylation of α-dystroglycan. Typical symptoms are early-onset muscular hypotonia with variable structural brain and eye anomalies. A 2021 report notes that congenital muscular dystrophies manifest within the first year of life with weakness, hypotonia, and developmental delay, and that a distinguishing feature from other muscular dystrophies is an increased association with brain malformations, particularly disorders of cortical development such as lissencephaly, pachygyria, and polymicrogyria. Subtypes such as muscle–eye–brain disease and Walker-Warburg syndrome are more commonly associated with structural eye abnormalities. Inheritance is usually autosomal recessive.
A 2002 paper described post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. A separate 2002 paper reported that deletion of brain dystroglycan in mice recapitulated aspects of congenital muscular dystrophy. A 2008 study of α-dystroglycanopathies in two juvenile patients with LGMD2I and LGMD2M noted that mutations in FKRP, FCMD, POMT1, POMT2, POMGnT1, and LARGE can cause a highly variable clinical phenotype with remarkable disease overlap, ranging from severe congenital onset with brain malformations to milder forms such as LGMD2.
No clinical trial data, no treatment outcomes, and no survival or response rates are reported in these abstracts. What is missing is any controlled study of a drug in this specific subtype, any patient stratification by genetic mutation, and any funding for a trial that could test a repurposed agent against the natural history of the disease.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Ophthalmological Findings of Muscular Dystrophies: A Survey of 53 Cases
AbstractAn ophthalmological survey of 53 cases of muscular dystrophies is presented. Patients were classified into a congenital type of dystrophies (21 cases) and a Duchenne type of dystrophies (32 cases). High incidence of myopia, weakness of the orbicularis oculi, lacking of Bell's reflex and blinking at rare intervals are found in congenital dystrophies. No pigmentary retinal degeneration was found and cataracts were rare. Atrophy of optic nerve is seen in several cases of congenital dystrophies. This fact is considered to suggest that congenital muscular dystrophies are not only a myogenic disorder but also involve the central nervous system with degenerative changes.
P 644. Diagnosis of Muscle–Eye–Brain Disease through Characteristic Neuroradiological Findings
AbstractBackground: Muscle–eye–brain disease MEB is a rare autosomal recessive congenital muscular dystrophy (CMD) characterized by an abnormal glycosylation of α-dystroglycan. The so-called α-dystroglycanopathies manifest with a marked clinical, biochemical, and genetical heterogeneity. Typical symptoms are early-onset muscular hypotonia with variable structural brain and eye anomalies. We present a patient with typical radiological findings which allowed us for an early genetic diagnosis and confirmation of the diagnosis MEB.
Indian Journal of Child Health · 2021 · 0 citations · open access
Muscle eye brain disease – A rare case of congenital muscular dystrophy
AbstractCongenital muscular dystrophies are a distinct group of inherited muscle disorders that manifest within the 1st year of life accompanied by weakness, hypotonia, and developmental delay. A distinguishing feature of congenital muscular dystrophy from other muscular dystrophies is an increased association with brain malformations, particularly disorders of cortical development such as lissencephaly, pachygyria, and polymicrogyria. Moreover, some subtypes of congenital muscular dystrophies (CMDs) such as muscle eye brain disease and Walker-Warburg syndrome are more commonly associated with structural eye abnormalities apart from brain malformations. The inheritance of CMD is usually autosomal recessive except for CMD with spinal rigidity and lamin A/C abnormality and Ullrich CMD.
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]
Muscular magnet resonance imaging (M-MRI) in α-Dystroglykanopathies – clinical course of two juvenile patients with LGMD2I and LGMD2M
AbstractIntroduction: α-Dystroglycanopathies are a heterogenous group of neuromuscular disorders caused by a hypoglycosilation of the membrane protein α-dystroglycan. Mutations in the genes FKRP, FCMD, POMT1, POMT2, POMGnT1 and LARGE can cause a highly variable clinical phenotype but also disclose a remarkably disease overlap. The clinical phenotype can range from severe congenital onset with brain malformations (e.g. Fukuyama muscular dystrophy) to relatively milder forms (e.g. LGMD2).
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.
