DeCure for Distal myopathy with posterior leg and anterior hand involvement
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for distal myopathy with posterior leg and anterior hand involvement — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleDistal myopathy with posterior leg and anterior hand involvement maps to a 2-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 distal myopathy with posterior leg and anterior hand involvement 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
filamin C (FLNC) — FLNC 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 7OUU · 1.47 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 2005 study of a single Australian kindred with twelve affected and two possibly affected members describes a dominant, slowly progressive early onset distal myopathy that spares the tibialis anterior even in advanced disease. All patients remained ambulant with no cardiac or respiratory involvement. Serum creatine kinase was normal or mildly elevated. Imaging showed widespread involvement of posterior and lateral leg compartments; proximal muscles were radiologically abnormal only in advanced disease. Muscle histopathology in four patients showed either end stage muscle or nonspecific myopathic findings without inflammation or vacuoles. Microsatellite markers formally excluded all known distal myopathy phenotype genes and linkage regions, suggesting a new distal myopathy locus.
A 2011 case report from Poland describes a male patient with a ten-year history of inclusion body myositis who responded well to intravenous immunoglobulin therapy. The report notes that inclusion body myositis is resistant to corticosteroids and other immunotherapies, and that most patients require an assistive device after five to ten years. This is a single case, not a controlled trial, and the disease course was described as slowly progressive and rather stable even before treatment.
A 2005 case report describes a 20-year-old male diagnosed with cystinosis at age two who gradually developed weakness and atrophy of hand muscles. Neurophysiological and histological studies established a diagnosis of distal vacuolar myopathy, and electron microscopy revealed deposits of cystine crystals. The authors state that timely treatment with cysteamine could prevent this complication, but no treatment data from this patient are presented.
What is still missing is a specific genetic locus or causative gene for the Australian kindred, any controlled trial of intravenous immunoglobulin for inclusion body myositis, and any evidence that cysteamine reverses established distal myopathy in cystinosis. No drug is tested in the 2005 kindred study, and the 2011 case report is a single observation without a comparator. Patient stratification by genetic subtype or disease stage remains absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neurology · 2005 · 41 citations
A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles
AbstractOBJECTIVE: To report a dominant, slowly progressive early onset distal myopathy with sparing of the tibialis anterior. METHODS: Twelve affected and two possibly affected members from an Australian kindred were examined and investigated by EMG, imaging studies, histopathology, and genetic analysis. RESULTS: Affected patients had a slowly progressive condition with symmetric, distal weakness and wasting of the anterior upper and posterior lower limbs, with sparing of tibialis anterior, even in advanced disease. All patients remained ambulant and there was no evidence of cardiac or respiratory muscle involvement. Serum creatine kinase levels were either normal or mildly elevated. Imaging studies showed widespread involvement of the posterior and lateral leg compartments. Proximal muscles were radiologically abnormal only in advanced disease. Muscles that were mildly affected clinically appeared normal on imaging. EMG in nine patients showed widespread myopathic changes. Muscle histopathology in four patients showed either end stage muscle or nonspecific myopathic findings without inflammation or vacuoles. Microsatellite markers for distal myopathy loci were analyzed and all known distal myopathy phenotype genes and linkage regions were formally excluded by multipoint analysis. CONCLUSIONS: The affected patients in this kindred display a clinically distinct myopathy, with selective involvement of posterior lower and anterior upper limb muscles. The genetic analysis suggests the existence of one more distal myopathy locus.
Neurologia i Neurochirurgia Polska · 2011 · 5 citations
Inclusion body myositis: therapeutic approaches. A case report
AbstractInclusion body myositis (IBM) seems to be the most common acquired myopathy among patients of age 50 or over. The characteristic clinical features of IBM include involvement of the quadriceps as well as distal muscles, mainly foot extensors and deep finger flexors. The course of the disease is slow but steadily progressive and most patients after 5 to 10 years require the aid of an assistive device. What distinguishes IBM from other inflammatory myopathies is its resistance to corticosteroids and other immunotherapies. We present a case report, the first in the Polish population, of a male patient with a 10-year history of inclusion body myositis responding well to intravenous immunoglobulin (IVIG) therapy. Despite the almost 10 years duration of the disease, its course was slowly progressive and rather stable. Essential aspects of diagnosis and pathogenesis as well as the therapeutic approach adopted are also discussed. Wtrętowe zapalenie mięśni (inclusion body myositis – IBM) to najczęstsza nabyta miopatia zapalna po 50. roku życia. W obrazie klinicznym najbardziej charakterystyczne jest zajęcie mięśni czworogłowych ud, jak również mięśni dystalnych, zginaczy grzbietowych stopy i zginaczy głębokich palców. Przebieg choroby jest powolny, ale systematycznie postępujący, po kilku latach trwania choroby większość pacjentów przestaje chodzić. W przeciwieństwie do pozostałych miopatii zapalnych, wtrętowe zapalenie mięśni nie odpowiada na leczenie kortykosteroidami i innymi lekami immunosupresyjnymi. Przedstawiana praca to pierwszy w Polsce opis przypadku chorego z dziesięcioletnim wywiadem wtrętowego zapalenia mięśni, u którego leczenie dożylnie podawanymi preparatami immunoglobulin (IVIG) przyniosło dobre efekty. Przebieg choroby w ciągu niemalże 10 lat był powoli postępujący i względnie stabilny. Ponadto omówiono zagadnienia związane z diagnostyką, patogenezą i obecnymi możliwościami leczenia wtrętowego zapalenia mięśni.
Cistinosis: una causa infrecuente de miopatía distal
AbstractINTRODUCTION: Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. CASE REPORT: Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. The patient gradually developed weakness and atrophy of the muscles in his hands. Neurophysiological and histological studies enabled a diagnosis of distal vacuolar myopathy to be established, and electron microscopy revealed deposits of cystine crystals. CONCLUSIONS: Cystinosis must be included within the differential diagnosis of distal myopathies. Timely treatment with cysteamine could prevent the development of this complication.
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.
