DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Mitchell syndrome — 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 moduleMitchell syndrome 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 mitchell syndrome 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.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part A · 2024 · 3 citations
<scp><i>ACOX1</i></scp> gain‐of‐function variation in a 10‐years‐old patient responsive to immunomodulating therapy
AbstractA heterozygous gain-of-function variant in the acyl-CoA oxidase 1 (ACOX1) gene, c.710A>G (p.Asn237Ser), is known to cause Mitchell syndrome, a very rare progressive disorder characterized by episodic demyelination, sensory polyneuropathy, and hearing loss. Only eight patients have been described so far. A single patient has been treated with intravenous immunoglobulin administration, indicating clinical improvement. In this study, we describe a 10-year-old girl carrying the identical mutation, who presented with progressive sensorineural deafness, visual abnormalities, skin ichthyosis, and gait ataxia from infantile age with progressive worsening and loss of walking ability by the age of 10 years. Antioxidant therapies and monthly intravenous immunoglobulin infusions showed excellent clinical results: after 1 year of treatment, the child is now able to walk, run, and jump. We emphasize the importance of early genetic diagnosis since an effective treatment is available for this rare condition.
Psychiatry Neurology and Medical Psychology · 2025 · 1 citations · open access
A clinical case of secondary erythromelalgia
AbstractBackground. Angiotrophoneuroses treatment is supposed to be one of the most sophisticated tasks for neurologists. This is the group of diseases, characterized by impairment of vascular tone regulation. The particular example of angiotrophoneuroses is erythromelalgia (also known as Mitchell syndrome), which results into neuropathic pain, autonomic dysfunction, and dystrophic changes in tissues, therefore poor level of life quality of patients with this condition. Unfortunately, comprehensive understanding of its pathophysiology is missing in view of the fact that itʼs rare and can be masked at the background of other myeloproliferative, demyelinating, metabolic, autoimmune and other diseases. Performing analysis of the clinical case of the secondary form of erythromelalgia gives an opportunity to attract attention of many healthcare specialists, such as neurologists, dermatologists, haematologists, vascular surgeons, etc. It is exceptionally important to highlight this topic, because patients with Mitchell syndrome can search for help visiting the doctors of different specialties. Purpose – to describe the clinical case of erythromelalgia, occurred in the patient with erythremia. Materials and Methods. The results of an objective neurological examination, the DN4 neuropathic pain diagnostic questionnaire and the TSS (Total Symptoms Score) assessment, as well as the reporting of laboratory and instrumental diagnostic examinations of a patient with Mitchellʼs syndrome, were used. Results. Neurological examination and paraclinical tests implied the patient had erythromelalgia, polyneuropathy (with vegetative-trophic and sensitive disorders, as well as movement disorders in the limbs, mainly in the distal parts), and erythremia. The use of complex therapy (gabapentin, L-lysine escinate, keltican, propranolol, suprastin, alerzin, methotrexate, acetylsalicylic acid) made it possible to improve the patientʼs condition. Conclusions. Erythromelalgia is a severe disease with high resistance to existent pharmacological approaches and unfavorable outcome. Although the modern drugs make it possible to reduce the subjective severity of symptoms, the frequency of paroxysms is hard to be controlled. Therefore, there is an urgent need to find new therapeutic approaches to the treatment of Mitchellʼs disease and the development of new methods that allow the detection of secondary forms of erythromelalgia.
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.
