DeCure for Muscular dystrophy, limb-girdle, autosomal recessive 26
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for muscular dystrophy, limb-girdle, autosomal recessive 26 — 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 26 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 26 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.
What the evidence adds up to
In a large inbred kindred from north-eastern Brazil with limb-girdle muscular dystrophy type 2C, male patients appeared to have a more severe clinical course than affected females. The phenotype, which affects both sexes equally, was first described in 93 patients from 28 Tunisian families. The prevalence in north-eastern Italy was estimated at 1.72 × 10⁻⁶ inhabitants. The condition is a Duchenne-like muscular dystrophy particularly prevalent in North Africa but rare elsewhere.
Among 470 families studied, 20 had at least one affected girl with a Duchenne-like phenotype and 450 had only affected boys. The proportion of families with Duchenne muscular dystrophy inherited as an autosomal recessive trait was estimated at 6.8%. It was also estimated that 2.5 to 4 percent of male isolated patients diagnosed as Duchenne muscular dystrophy may have the autosomal recessive form.
Thirty-one limb-girdle muscular dystrophy subtypes are now described, five autosomal dominant and 26 autosomal recessive. The landscape is rapidly expanding in relation to diagnosis and evolving targeted treatment options, but no specific therapy for LGMD2C is reported in these abstracts. What remains missing are large, well-phenotyped natural history studies that account for sex differences in disease progression, and clinical trial infrastructure capable of testing candidate treatments in this rare and genetically heterogeneous population.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Medical Genetics · 1999 · 7 citations · open access
Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred
AbstractEditor—The autosomal recessive limb-girdle muscular dystrophies (AR-LGMD) are clinical entities characterised by primary and progressive muscle degeneration, mainly at the pelvic and shoulder girdles, with great variability in the clinical course. Some patients present a severe course similar to Duchenne muscular dystrophy, while others maintain the capacity to walk even in adult life.1-3 At least eight autosomal recessive genes have been mapped. The chromosome localisation of these genes and their products, and a brief comment on the clinical course of each type of AR-LGMD are summarised in table 1. Of these mapped genes, six have been cloned: the gene responsible for LGMD2A which encodes calpain 3, a muscle specific protease,30 the genes that cause the known sarcoglycanopathies (LGMD2C-LGMD2F),11 15 20 22 26and, recently, the gene for LGMD2B which encodes a protein called “dysferlin” by the investigators.8
View this table:
Table 1
The autosomal recessive limb-girdle muscular dystrophies
LGMD2C is a Duchenne-like muscular dystrophy particularly prevalent in North Africa,10-12 31 32 but rare in other geographical regions; its prevalence in north eastern Italy was estimated to be 1.72 × 10-6 inhabitants.33 This phenotype, which affects both sexes equally, was first described by Ben Hamida et al 12 in 93 patients belonging to 28 Tunisian families. A few large kindreds, with many affected persons, have been described. Here we report the results of a clinical and molecular study in a large inbred kindred from the north east of Brazil with LGMD2C, which is unusual because the male patients appear to have a more severe clinical course than the affected females.
The genealogical data from five generations (fig 1) were obtained and confirmed by different family members. The dates of birth, marriage, and death, causes of death, and abortions were documented. A total of 56 subjects, including …
Рациональная фармакотерапия в кардиологии · 2012 · 0 citations
Место в-адреноблокаторов в терапии кардиоваскулярных заболеваний у беременных женщин
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.
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.
