DeCure for Muscular dystrophy, limb-girdle, autosomal recessive 29
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for muscular dystrophy, limb-girdle, autosomal recessive 29 — 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 29 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 29 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
snurportin 1 (SNUPN) — SNUPN 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 gtpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3GJX · 2.5 Å · ligand GUANOSINE-5'-TRIPHOSPHATE (GTP). Experimental structure, not a prediction.
What the evidence adds up to
A gene for autosomal recessive limb-girdle muscular dystrophy was mapped to chromosome 2p in 1994, based on two large inbred families of different ethnic origin. Linkage to markers D2S134 and D2S136 gave a maximum lod score of 3.57 at zero recombination. Onset was in the pelvic girdle musculature in the late teens, with usually relatively slow progression. This locus was designated LGMD2B, later renamed LGMDR2, and is now known to be caused by mutations in the dysferlin gene.
A 2012 review noted that the muscular dystrophies as a group display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset. It reported that recent advances included improved methods of diagnosis, continued identification of disease genes, and the development of a unified model of pathogenesis in facioscapulohumeral dystrophy. The review stated that these advances were reflected in the development of new therapeutic approaches, some of which had already led to clinical trials in the dystrophinopathies and limb-girdle dystrophies. No specific results from those trials were given.
A 1989 study estimated the proportion of autosomal recessive inheritance among families with affected males diagnosed as Duchenne muscular dystrophy in which X-linked inheritance could not be confirmed. Among 470 families studied, 20 had at least one affected girl with a "Duchenne-like" phenotype. The proportion of families with DMD inherited as an autosomal recessive trait was estimated at 6.8%. The authors also estimated that 2.5–4% of male isolated patients diagnosed as DMD may have the autosomal recessive form. This study predates the identification of the dysferlin gene and the LGMDR2 locus, but it illustrates that autosomal recessive forms of muscular dystrophy were known to exist in a small fraction of cases that clinically resembled X-linked Duchenne.
What is still missing for LGMDR2 specifically is a completed, adequately powered clinical trial of any drug. The 2012 review mentioned that some limb-girdle dystrophy trials had begun, but no results from those trials were provided in the abstracts. No drug is named in any of these abstracts. The field still lacks a proven therapy, and the heterogeneity of the disease means that patient stratification by mutation type and disease stage will be necessary for any future trial to succeed. Funding for such trials remains limited.
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 Molecular Genetics · 1994 · 193 citations
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
AbstractThe limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. We have studied two large inbred families of different ethnic origin and excluded linkage to LGMD2 on chromosome 15q and SCARMD on chromosome 13. Proceeding to a genomic linkage search, we have now identified linkage to markers D2S134 and D2S136 on chromosome 2p (maximum lod score 3.57 at zero recombination). The phenotype in the two families was similar, with onset in the pelvic girdle musculature in the late teens and usually relatively slow progression. This work identifies a second locus for autosomal recessive limb-girdle muscular dystrophy.
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.
American Journal of Medical Genetics · 1989 · 45 citations
Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance
AbstractThe aim of the present report was to estimate the proportion of autosomal recessive (AR) inheritance among families with affected males diagnosed as Duchenne muscular dystrophy (DMD) in which X-linked inheritance could not be confirmed. A total of 470 families was studied: 20 with at least one affected girl with "Duchenne-like" phenotype and 450 with only affected boys. Based on the number of families with at least one affected girl and the number of patients per sibship among these pedigrees, the proportion of families with DMD inherited as an AR trait was estimated at 6.8%. It is also estimated that 2.5-4% of male isolated patients diagnosed as DMD may have the AR form, which could be one possible explanation for the inconsistent results between clinical diagnosis and dystrophin assessment in one case recently reported.
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.
