DeCure for Myopathy, lactic acidosis, and sideroblastic anemia
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for myopathy, lactic acidosis, and sideroblastic anemia — 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 moduleMyopathy, lactic acidosis, and sideroblastic anemia 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 myopathy, lactic acidosis, and sideroblastic anemia 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
tyrosyl-tRNA synthetase 2 (YARS2) — YARS2 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 l-tyrosyldrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2PID · 2.2 Å · ligand 5'-O-[N-(L-TYROSYL)SULFAMOYL]ADENOSINE (YSA). Experimental structure, not a prediction.
What the evidence adds up to
A 31-year-old man with a fulminant form of mitochondrial myopathy, lactic acidosis, and rhabdomyolysis was treated with continuous venovenous hemodiafiltration (CVVHDF). On admission he was in shock with severe high-output heart failure, acute renal failure, and rhabdomyolysis. The authors report an excellent response with no signs of hemodynamic instability during the procedure. This is a single case, and the report does not provide survival data or long-term follow-up beyond the acute episode.
A separate case report describes an 8.5-year-old boy with MLASA syndrome—mitochondrial myopathy, lactic acidosis, and sideroblastic anemia—who had chronic progressive leg weakness, inability to walk, and pallor. He had microcytic sideroblastic anemia, mild lactic acidosis, and inflammatory myopathy on muscle biopsy. Treatment with corticosteroids and rehabilitation produced an excellent response, and the patient was ambulatory after four months. Again, this is a single case with no control or comparison.
A third report describes a patient with severe anemia (haemoglobin below 2 g/dl) and lactic acidosis (blood lactate 17.5 mmol/l) where circulatory failure and other causes of lactic acid accumulation were excluded. Transfusion rapidly corrected the metabolic derangements. The authors note that anaerobic metabolism is normally prevented in anaemia by compensatory mechanisms, and that only an extreme fall in haemoglobin may result in lactic acidosis.
What is missing: no controlled trials exist for any intervention in MLASA syndrome. The evidence is limited to single case reports. There is no data on long-term outcomes, no standardised treatment protocol, and no patient stratification by genetic subtype. Funding for systematic study of this rare disorder is 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.
Journal of Intensive Care Medicine · 2007 · 5 citations
Continuous Venovenous Hemodiafiltration for Life-threatening Mitochondrial Myopathy With Lactic Acidosis and Rhabdomyolysis
AbstractWe report here the clinical course of a 31-year-old male who recovered from a fulminant form of mitochondrial myopathy with lactic acidosis. The patient was transferred to our hospital with acute dyspnea and a convulsive seizure. On admission, he was in a state of shock, and presented with severe high-output heart failure, acute renal failure, and rhabdomyolysis. Treatment with continuous venovenous hemodiafiltration (CVVHDF) resulted in an excellent response, with no signs of hemodynamic instability. This case suggests that CVVHDF with serial hemodynamic monitoring may be effective in treating hypotensive patients with a life-threatening mitochondrial disorder.
AbstractA case of severe anemia complicated with lactic acidosis (blood lactic acid concentration 17.5 mmol/l) is presented. Circulatory failure and other causes of lactic acid accumulation could be excluded. Transfusion treatment resulted in a rapid correction of the metabolic derangements. Activation of anaerobic metabolism is prevented in anemia by the highly efficient compensating mechanisms of the organism. Only an extreme fall of the blood hemoglobin concentration below 2 g/dl may result in lactic acidosis.
Iranian journal of child neurology. · 2008 · 1 citations · open access
MLASA syndrome: a case report.
AbstractMitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism. The association between myopathy and sideroblastic anemia was initially reported in 1974. Here we report an 8.5 year old boy with normal cognitive function, suffering from chronic progressive weakness in his lower extremities, inability to walk and palor. Microcytic sideroblastic anemia, mild lactic acidosis and inflammatory myopathy (myositis) in muscle biopsy was detected and treated; the response to corticosteroid therapy and rehabilitation was excellent and the patient was ambulatory after four months.
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.
