DeCure for Autosomal recessive limb-girdle muscular dystrophy type 2H
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive limb-girdle muscular dystrophy type 2H — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAutosomal recessive limb-girdle muscular dystrophy type 2H maps to a 3-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 autosomal recessive limb-girdle muscular dystrophy type 2h 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
astrotactin 2 (ASTN2) — ASTN2 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 i3pdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5J67 · 3.16 Å · ligand D-MYO-INOSITOL-1,4,5-TRIPHOSPHATE (I3P). Experimental structure, not a prediction.
What the evidence adds up to
The abstracts provided contain no direct information on autosomal recessive limb-girdle muscular dystrophy type 2H, its specific genetic cause, or any clinical trial data for that subtype. The 1998 study explicitly excludes linkage to seven recessive LGMD loci in four dominant pedigrees, but this does not address type 2H. The 2020 review notes that gene therapy research in muscular dystrophies is concentrating on recessive disorders, with the idea of complementing defective genes with an extra copy, and mentions that LGMD2A is caused by mutations in the gene for calpain-3 on chromosome 15q15. The 2023 update states that 31 LGMD subtypes are described, 26 of autosomal recessive transmission, and discusses evolving targeted treatment options, but gives no specific results for type 2H.
No efficacy data, response rates, survival figures, or sample sizes for any intervention in LGMD2H appear in these abstracts. The 2020 review describes the general principle of gene complementation for recessive disorders but does not report any trial outcomes. The 2023 update similarly mentions therapeutic advances without quantifying them. There is no mention of any drug, small molecule, or biological agent being tested in type 2H in any of the three sources.
What is missing is any clinical evidence specific to LGMD2H: no natural history data, no patient stratification by mutation, no trial design, and no funding commitments for a targeted therapy. The abstracts confirm the genetic heterogeneity of the LGMDs and the general direction of gene-replacement research for recessive forms, but they do not establish that any approach has reached human testing for this subtype. Without such data, no claim of efficacy can be made.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Human Heredity · 1998 · 4 citations
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.
AbstractThe muscular dystrophies are genetically determined disorders characterized by progressive weakness and degeneration of muscle. Research into gene therapy in the muscular dystrophies is presently concentrating on the recessive disorders, with the idea that these might be treated by complementation of the defective genes with an extra copy. The gene responsible for X-linked Duchenne muscular dystrophy was the first defective gene to be isolated in the muscular dystrophies. A number of more direct strategies for genetic therapy of muscular dystrophies are currently being explored. Mutations in each component of the sarcoglycan complex, however, result in variants of autosomal recessive limb-girdle muscular dystrophy. Emery-Dreifuss muscular dystrophy is characterized by skeletal muscle weakness, joint contractures and a cardiomyopathy with arrhythmia. The recessive limb-girdle muscular dystrophy, LGMD2A, is caused by mutations in a gene on chromosome 15q15 that codes for the muscle-specific calcium-activated neutral protease, calpain-3.
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.
