DeCure for Autosomal recessive limb-girdle muscular dystrophy type 2P
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive limb-girdle muscular dystrophy type 2P — 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 2P 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 2p 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
dystroglycan 1 (DAG1) — DAG1 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 udpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7E9K · 2.05 Å · ligand URIDINE-5'-DIPHOSPHATE (UDP). Experimental structure, not a prediction.
What the evidence adds up to
No abstract in this set describes a treatment or clinical trial for autosomal recessive limb-girdle muscular dystrophy type 2P specifically. The 2021 case series on ISPD gene mutations (which cause dystroglycanopathies including some limb-girdle phenotypes) reports that six patients were given low-dose prednisone therapy and that this improved exercise ability and prolonged survival, but the abstract gives no numerical data on response rates, survival times, or sample sizes beyond the six patients. The same abstract states that no studies had yet reported any effective treatments for ISPD-related disease before this report. The 2018 case report on dysferlinopathy (LGMD2B) explicitly says there is no curative treatment and that steroids and immunosuppressive medications are not effective and may have side effects. The 2008 and 2015 papers describe single cases of autosomal dominant forms, which are genetically distinct from the recessive type 2P. The 2023 update lists 31 LGMD subtypes and mentions evolving targeted treatment options but provides no specific drug, trial result, or survival data for any subtype.
No drug other than prednisone appears in any abstract. The prednisone data come from a small, uncontrolled case series in a different genetic subtype (ISPD-related dystroglycanopathy), not from a trial in LGMD2P. The 2018 dysferlinopathy paper explicitly warns against using steroids. The 2025 case report on dysferlinopathy in an adolescent emphasises the importance of genetic diagnosis but offers no treatment.
What is missing for autosomal recessive limb-girdle muscular dystrophy type 2P specifically: any clinical trial, any drug tested in that subtype, any natural history data, any validated outcome measures, and any patient registry. Funding for preclinical work or for a trial design that stratifies by the exact genetic mutation would be needed before any treatment could be evaluated.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
European Neurology · 2008 · 16 citations
A Late Autosomal Dominant Form of Limb-Girdle Muscular Dystrophy
AbstractA case report of a 56-year-old man with a late-onset limb-girdle muscular dystrophy is presented. The disease was caused by an autosomal dominant gene with expression limited to males. A muscle biopsy was performed in a clinically less affected limb-girdle muscle. Light microscopic and histochemical examination showed only minor changes with the exception of important variation in the diameter of the type II muscle fibers. With the electron microscope a large variety of alterations, as well as extensive damage to type II fibers, were seen. The genetic and morphological findings are discussed in relation to the classification and etiology of the limb-girdle muscular dystrophy.
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.
Frontiers in Pediatrics · 2021 · 4 citations · open access
Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration
AbstractISPD gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by ISPD gene mutations and analyze their genotypes and phenotypes to explore possible effective treatments. Our results confirm that the phenotype of limb-girdle muscular dystrophies can be easily misdiagnosed as Duchenne muscular dystrophy and that exon deletions of ISPD gene are relatively common. Moreover, low-dose prednisone therapy can improve patients' exercise ability and prolong survival and may be a promising new avenue for ISPD therapy.
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.
DOAJ (DOAJ: Directory of Open Access Journals) · 2015 · 0 citations · open access
Autosomal dominant limb-girdle muscular dystrophy: Leyden–Möbius pelvifemoral form
AbstractThe paper considers current approaches to the clinical laboratory diagnosis of limb-girdle muscular dystrophy with emphasis on its autosomal dominant forms. The authors describe their clinical observation of a case of late diagnosis of the pelvifemoral form of autosomal dominant limbgirdle muscular dystrophy in a 37-year-old patient.
Nepal Journal of Neuroscience · 2025 · 0 citations · open access
A Rare Case of Dysferlinopathy in an Adolescent from a Resource-Limited Setting
AbstractDysferlinopathies are rare autosomal recessive muscular disorders with varying phenotypes, including Miyoshi Myopathy (MM) and Limb-Girdle Muscular Dystrophy type 2B (LGMD2B). They result from mutations in the DYSF gene, which encodes dysferlin, a protein crucial for sarcolemmal repair. Diagnosis can be challenging due to clinical variability, necessitating genetic testing. We present the case of an 18-year-old girl with progressive lower limb weakness and elevated creatine kinase levels, who was ultimately diagnosed through genetic analysis. This case emphasizes the importance of genetic testing for accurate diagnosis, improved patient care, and appropriate genetic counseling.
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.
