DeCure for Autosomal recessive limb-girdle muscular dystrophy type R18
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive limb-girdle muscular dystrophy type R18 — 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 R18 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 r18 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
Autosomal recessive limb-girdle muscular dystrophy type R18 is one of many forms of proximal muscle weakness caused by mutations in different genes. A 2011 review lists 39 genes associated with limb-girdle muscular dystrophies and notes that only symptomatic treatments are available for patients. The same review mentions potential treatments under development including stem-cell transplantation, exon skipping, gene delivery, RNAi, and gene editing, but none are established therapies.
A 2021 case report describes six patients with dystroglycanopathies caused by ISPD gene mutations, which can produce a limb-girdle phenotype. The authors state that no studies have yet reported any effective treatments for ISPD-related disease. They report that low-dose prednisone therapy improved exercise ability and prolonged survival in their six patients, but provide no numerical data on the size of improvement or length of survival prolongation. The report does not specify how many patients received prednisone or for how long they were followed.
A 2025 case report describes a single young boy with a novel homozygous TTN variant causing autosomal recessive limb-girdle muscular dystrophy type 10. The boy presented with distal muscle weakness in all four limbs for three years and thinning of legs, arms, and thighs. No treatment was tested or reported in that study. The 2001 review provides no treatment data and only describes the classification and genetics of limb-girdle muscular dystrophies generally.
What is missing for autosomal recessive limb-girdle muscular dystrophy type R18 specifically: no clinical trial has tested any drug for this subtype. The prednisone observation in ISPD-related dystroglycanopathy comes from six patients without a control group, and no replication exists. No gene therapy, exon skipping, or other molecular treatment has been tested in patients with this specific genetic form. Patient stratification by mutation type and natural history data for type R18 are absent. Funding for a dedicated trial of any candidate drug for this subtype has not been reported.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Current Opinion in Neurology · 2001 · 22 citations
The ABCʼs of limb-girdle muscular dystrophy: α-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more
AbstractLimb-girdle muscular dystrophy is a class of disorders encompassing many forms of this disease. Variation exists between the inheritance patterns, genes responsible, course of disease and symptoms, with the cohesive factor among these disorders being the predominance of proximal muscle weakness. Here we review each form of limb-girdle muscular dystrophy with attention to molecular genetics, clinical features, inheritance, and diagnostic issues pertaining to each primary genetic cause.
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.
Journal of Clinical Medicine · 2011 · 0 citations · open access
The Arkansas Leadership Academy Master Principal Program: Using Reflective Practice and Peer Learning Support Networks
AbstractLimb-girdle muscular dystrophies (LGMDs) are caused by mutations in multiple genes. This review article presents 39 genes associated with LGMDs. Some forms are inherited in a dominant fashion, while for others this occurs recessively. The classification of LGMDs has evolved through time. Lately, to be considered an LGMD, the mutation has to cause a predominant proximal muscle weakness and must be found in two or more unrelated families. This article also presents therapies for LGMDs, examining both available treatments and those in development. For now, only symptomatic treatments are available for patients. The goal is now to solve the problem at the root of LGMDs instead of treating each symptom individually. In the last decade, multiple other potential treatments were developed and studied, such as stem-cell transplantation, exon skipping, gene delivery, RNAi, and gene editing.
International Medical Case Reports Journal · 2025 · 0 citations · open access
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene
AbstractLimb-girdle muscular dystrophy was first introduced in the 1950s as a distinct family of unusual genetic diseases. The prevalence of the disease is about 4-7/1000, with a spectrum of onset at different ages. LGMD has a cluster of symptoms varying in severity and presentation in patients. Limb-girdle muscular dystrophy`s inheritance is unique as it can be autosomal dominant or recessive. We report a young boy with autosomal recessive limb-girdle muscular dystrophy (LGMD), presented with distal muscle weakness in all four limbs for three years and thinning of legs, arms, and thighs. Our gene of focus is TTN, which is associated with muscle elasticity and myogenesis. Our subtype reported is currently associated with a new homozygous TTN variant; thus, we are writing a novel variant mutation causing limb-girdle muscular dystrophy type 10.
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.
