DeCure for Visceral neuropathy, familial, 1, autosomal recessive
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for visceral neuropathy, familial, 1, autosomal recessive — 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 moduleVisceral neuropathy, familial, 1, autosomal recessive 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 visceral neuropathy, familial, 1, autosomal recessive 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
erb-b2 receptor tyrosine kinase 3 (ERBB3) — ERBB3 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 7MN5 · 2.93 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
The 1994 abstract on familial dysautonomia (Riley-Day syndrome) describes an autosomal recessive disorder with reduction or loss of unmyelinated and small myelinated fibres, and reduced dopamine beta-hydroxylase in blood. Diagnosis is based on clinical features including diminished lacrimation, insensitivity to pain, poor temperature control, abolished deep tendon reflexes, postural hypotension, vomiting attacks, poor motor coordination, and mental retardation. The abstract states that treatment is symptomatic and that many children die during the first years of life, usually from repeated aspiration pneumonia. It reports a single case of a one-year-old child.
A 1984 abstract on familial amyloid polyneuropathy describes an autosomal dominant disorder affecting peripheral and autonomic nervous systems, typically symptomatic in the third or fourth decade. It notes that diagnosis is often delayed until advanced stages due to confusion with other genetic neurologic conditions. The abstract reports a new German kinship where the disorder was detected in two asymptomatic family members seeking genetic counselling. This condition is not autosomal recessive and is a different disease from the one specified.
A 2020 case report describes a 29-year-old man born of consanguineous marriage, presenting with ataxia, peripheral neuropathy and cognitive impairment. He was initially diagnosed with coeliac disease, but further investigation led to an additional diagnosis of cerebrotendinous xanthomatosis, an autosomal recessive condition. The authors note that both conditions have overlapping clinical phenotypes, contributing to a delay in diagnosis. No drug treatment is mentioned in any of the three abstracts.
No drug therapy, no survival data beyond the statement that many children with familial dysautonomia die in early childhood, and no response rates are provided in these abstracts. What is still missing for this specific autosomal recessive visceral neuropathy is any controlled trial, any identified drug candidate, any patient stratification, and any funding directed at treatment rather than diagnosis.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Arquivos de Neuro-Psiquiatria · 1994 · 8 citations · open access
Familial dysautonomy (Riley-Day syndrome)
AbstractFamilial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abolished deep tendon reflexes, postural hypotension, vomiting attacks, poor motor coordination, and mental retardation. The treatment is symptomatic and many children die during the first years of life, usually as a result of repeated aspiration pneumonia. We report the case of a 1 year-old child with familial dysautonomia.
AbstractFamilial amyloid polyneuropathy (FAP) is an autosomal dominant inherited disorder that primarily affects the peripheral and autonomic nervous systems and usually becomes symptomatic in the third or fourth decade. Because of the confusion with other genetically transmitted neurologic conditions, the diagnosis is often delayed until advanced stages. We describe a new German kinship with FAP in which the disorder was detected in two asymptomatic family members who were seeking genetic counseling.
BMJ Case Reports · 2020 · 1 citations · open access
Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis
AbstractWe present the case of a 29-year-old south Asian man born of consanguineous marriage, presenting with ataxia, peripheral neuropathy and cognitive impairment. An initial diagnosis of coeliac disease was thought to explain the pertinent clinical features; however, further investigation led to an additional diagnosis of the rare yet treatable autosomal recessive condition, cerebrotendinous xanthomatosis. With both conditions employing highly diverse and overlapping clinical phenotypes, this contributed to a delay in diagnosis. Our report highlights the importance of paying close attention to both the clinical phenotype and family history.
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.
