DeCure for Muscular dystrophy, limb-girdle, autosomal recessive 27
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for muscular dystrophy, limb-girdle, autosomal recessive 27 — 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, limb-girdle, autosomal recessive 27 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, limb-girdle, autosomal recessive 27 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
jagged canonical Notch ligand 2 (JAG2) — JAG2 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 5MW7 · 2.8 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders of progressive muscular degeneration and weakness, ranging from congenital to adulthood onset. As of 2023, thirty-one LGMD subtypes have been described: five autosomal dominant and twenty-six autosomal recessive. The autosomal recessive form numbered 27 is one of these twenty-six recessive subtypes, but no abstract in this set provides its specific gene, protein, or any clinical trial data for it. A 1998 study of four dominant LGMD families excluded linkage to all known dominant loci and also found no evidence for linkage to any of the seven recessive LGMD loci known at that time, underscoring the inherent genetic heterogeneity that continues to expand.
Recent advances in the field include improved diagnostic methods, continued identification of disease genes, and a unified model of pathogenesis in facioscapulohumeral dystrophy. These advances have led to new therapeutic approaches, some of which have already entered clinical trials in the dystrophinopathies and limb-girdle dystrophies generally. However, no abstract reports a completed trial, a survival figure, a response rate, or a sample size for any drug in any LGMD subtype, let alone for autosomal recessive 27.
The 2023 update describes LGMDs as a rapidly expanding landscape in neurology for both diagnosis and evolving targeted treatment options, but it provides no concrete efficacy data for any specific therapy. What is still missing for autosomal recessive 27 is any dedicated clinical trial, any identified drug candidate tested in patients, any patient stratification by genetic subtype, and the funding required to move from gene discovery to a properly powered, placebo-controlled study.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Seminars in Neurology · 2012 · 71 citations
The Muscular Dystrophies
AbstractThe muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset. Recent advances in the field include improved methods of diagnosis, continued identification of disease genes, and the development of a unified model of pathogenesis in facioscapulohumeral dystrophy. These advances are reflected in the development of new therapeutic approaches, some of which have already led to clinical trials in the dystrophinopathies and limb-girdle dystrophies.
Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families
AbstractThe limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. Recent linkage analyses and positional cloning studies have identified numerous loci responsible for the recessive and dominant forms, underscoring the inherent heterogeneity. In this report, we investigate four large autosomal dominant limb-girdle pedigrees and exclude these pedigrees from linkage to these loci. In addition, there is no evidence for linkage to any of the seven recessive LGMD loci.
Sri Lanka Journal of Neurology · 2023 · 0 citations · open access
Limb-girdle muscular dystrophies: An update
AbstractLimb-girdle muscular dystrophies (LGMDs) are a heterogenous group of genetically driven muscle disorders, which share the two common features of progressive, predominantly proximal girdle skeletal muscle involvement and dystrophic changes on pathology. This is a rapidly expanding landscape in neurology both in relation to diagnosis as well as evolving targeted treatment options. Thirty-one LGMD subtypes are described to date; five of autosomal dominant inheritance and 26 of autosomal recessive transmission. This article describes their pathogenesis, clinical presentation, diagnosis and recent therapeutic advances.
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.
