DeCure for Autosomal recessive limb-girdle muscular dystrophy type 2G
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive limb-girdle muscular dystrophy type 2G — 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 moduleAutosomal recessive limb-girdle muscular dystrophy type 2G 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 autosomal recessive limb-girdle muscular dystrophy type 2g 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
titin-cap (TCAP) — TCAP 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 2F8V · 2.75 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
The 1989 study estimated that 6.8% of families with Duchenne muscular dystrophy (DMD) actually had an autosomal recessive form, based on 20 families with at least one affected girl among 470 families studied. Among male isolated patients diagnosed as DMD, the proportion with the autosomal recessive form was estimated at 2.5-4%. This suggests that some patients labelled as DMD may have a different genetic disease, but the study did not examine limb-girdle muscular dystrophy type 2G specifically.
A 2018 case report described a Saudi patient with limb-girdle muscular dystrophy type 2B, a different subtype caused by a homozygous duplication in the DYSF gene. The report stated there is no curative treatment for this disease and that steroids and immunosuppressive medications are not effective and may have side effects. No drug treatment was tested or recommended.
A 2020 review of Duchenne muscular dystrophy noted the disease is currently untreatable and most patients die from cardiac failure in their late 30s. The review discussed induced pluripotent stem cell therapy and genetic therapy in mdx mouse models, reporting promising results in mice but no human clinical trial data. This review did not address limb-girdle muscular dystrophy type 2G.
A 2023 update on limb-girdle muscular dystrophies described 31 subtypes, five autosomal dominant and 26 autosomal recessive, and mentioned evolving targeted treatment options without specifying any drug for type 2G. A 2013 study on dystroglycanopathies covered a broad clinical spectrum including limb girdle muscular dystrophy but did not report any drug intervention or clinical trial for type 2G.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
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.
Journal of Back and Musculoskeletal Rehabilitation · 2018 · 9 citations
Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia
AbstractDysferlinopathies encompass a group of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle. It is a genetic disorder caused by a mutation in the dysferlin gene (DYSF) with an autosomal recessive mode of inheritance. In this article, we report a case of Limb-girdle muscular dystrophy type 2B with a rare homozygous duplication c.164dupA, p.(Ile57Hisfs*8) (rs863225020) in DYSF in a Saudi patient. To the best of our knowledge, this is the first case from Saudi Arabia with complete clinical data, pathology findings, radiology findings, and genetic analysis. Although there is no curative treatment for this disease, an accurate diagnosis is important to avoid using steroids and immunosuppressive medications, which are not effective and may have several side effects. Further studies are needed to explore potential therapies for this rare condition.
Duchenne’s Muscular Dystrophy: The Role of Induced Pluripotent Stem Cells and Genomic Editing on Muscle Regeneration
AbstractThere are two types of well-known muscular dystrophies: Duchenne's muscular dystrophy (DMD) and Becker's muscular dystrophy. This article focuses on the X-linked recessive disorder of Duchenne's muscular dystrophy, which primarily affects children at age four, with a shortened life span of up to 40 years. A defective dystrophin protein lacking the gene dystrophin is the primary cause of the disease pathophysiology. This defect causes cardiac and skeletal muscle down-regulation of dystrophin, leading to weak and fibrotic muscles. The disease is currently untreatable, so most kids die due to cardiac failure in their late 30's. This review presents current treatment options, based on previous studies conducted over the last five years. We used the PubMed database to analyze and review the most important investigations. We also included an analysis of induced pluripotent stem cell therapy vs. genetic therapy using the mdx mouse model. We have discovered promising results on mdx mouse models to date and excited about the potential for where further clinical human trials can go.
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.
Genotype-phenotype correlation in congenital muscular dystrophies with defective O-glycosylation of #CHR:alpha_LOWER#-dystroglycan
AbstractAims: Congenital muscular dystrophies with defective O-glycosylation of α-dystroglycan (dystroglycanopathies) are a heterogeneous group of autosomal-recessive diseases with a broad clinical spectrum ranging from Walker-Warburg syndrome (WWS) to limb girdle muscular dystrophy (LGMD). The aim of this study is to characterize genotype and phenotype of patients with confirmed dystroglycanopathy diagnosed in our genetic laboratory in the past 9 years.
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.
