DeCure for Hereditary sensory and autonomic neuropathy type 6
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for hereditary sensory and autonomic neuropathy type 6 — 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 moduleHereditary sensory and autonomic neuropathy type 6 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 hereditary sensory and autonomic neuropathy type 6 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
Hereditary sensory and autonomic neuropathy type 6 is not mentioned in any of the provided abstracts. The abstracts discuss HSAN types I, IV, and a novel adult-onset form. One 2019 case report of a three-year-old boy with HSAN type IV states plainly that there is no definitive treatment available presently for this condition. A 2017 study of nine patients from nine unrelated families with HSAN type IV identifies mutations in the NTRK1 gene, but reports no therapeutic intervention or outcome data. A 2004 review covers genetic advances in the hereditary sensory neuropathies but does not address treatment. A 2001 report describes a novel adult-onset HSAN with anosmia, anhidrosis, and sensory loss in three siblings, but again offers no treatment.
No abstract provides any evidence for drug repurposing, any clinical trial, or any pharmacological intervention for hereditary sensory and autonomic neuropathy of any type. The only concrete statement about treatment is the 2019 conclusion that no definitive treatment exists. No response rates, survival data, or sample sizes for any drug are available in these abstracts.
What is missing for any potential drug repurposing effort in HSAN type 6 specifically is any published research at all on that subtype in these abstracts. More broadly, for the HSANs described, what is missing is any clinical trial data, any identified drug target validated in patients, any patient stratification strategy, and any funding for treatment studies.
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 · 2004 · 73 citations
Hereditary sensory neuropathies
AbstractPURPOSE OF REVIEW: The hereditary sensory neuropathies, also known as the hereditary sensory and autonomic neuropathies, are a clinically and genetically heterogeneous group of disorders. As they are not as common as Charcot-Marie-Tooth disease, they do not receive the same level of attention, but there have been major advances in the identification of the causative genes in the past decade. Certain forms of hereditary sensory and autonomic neuropathy, especially hereditary sensory and autonomic neuropathy type I, which has minimal autonomic involvement and is more accurately termed hereditary sensory neuropathy type I, can present in a very similar fashion to certain forms of Charcot-Marie-Tooth disease (Charcot-Marie-Tooth type 2B, see below), and therefore it is important that clinicians who regularly manage patients with neuropathy are familiar with the latest developments in the hereditary sensory and autonomic neuropathies. This review will concentrate on the recent genetic advances in hereditary sensory and autonomic neuropathy, and especially on those forms that overlap clinically with Charcot-Marie-Tooth disease, hence the title of the review 'Hereditary sensory neuropathies' rather than hereditary sensory and autonomic neuropathies.
American Journal of Medical Genetics Part A · 2017 · 28 citations
Exome sequencing identifies novel <i>NTRK1</i> mutations in patients with HSAN‐IV phenotype
AbstractHereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. HSAN-IV is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene, NTRK1, encoding the high-affinity receptor of nerve growth factor (NGF) which maps to chromosome 1q21-q22. Patients with HSAN-IV lack all NGF-dependent neurons, the primary afferents and sympathetic postganglionic neurons leading to lack of pain sensation and the presence of anhidrosis, respectively. Herein, we report nine patients from nine unrelated families with HSAN-IV due to various mutations in NTRK1, five of which are novel. These are three missense and two nonsense mutations distributed in various domains of NTRK1 involved in binding of NGF. The affected patients had variable intellectual deficits, and some had delayed diagnosis of HSAN-IV. In addition to being the first report of HSAN-IV from the Arabian Peninsula, this report expands the mutational spectrum of patients with NTRK1 mutations and provides further insights for molecular and clinical diagnosis.
International Journal of Research in Medical Sciences · 2019 · 3 citations · open access
A case of hereditary sensory and autonomic neuropathy type 4 presenting with chronic trophic ulcers
AbstractHereditary Sensory and Autonomic Neuropathy (HSAN) is a rare group of diseases involving varying degrees of peripheral nervous system. It is classified into five main types. HSAN type 4 is associated with insensitivity to pain and temperature and anihidrosis. The method of this study was to authors present a case report of a 3 year-old boy with Hereditary Sensory and Autonomic Neuropathy Type 4 presenting with chronic ulcers. Conclusions of this study was to HSAN type IV is a rare condition. There is no definitive treatment available presently for this condition.
Adult-onset hereditary sensory and autonomic neuropathy accompanied by anosmia but without skin ulceration
AbstractWe report a novel type of hereditary sensory and autonomic neuropathy (HSAN) with adult onset in a Japanese family. One male and 2 females of 6 siblings were affected. They developed anosmia initially at the ages of 20-50 years, followed by anhidrosis and sensory loss. Skin ulceration was absent. Both superficial and deep sensation were impaired in the most distal parts of all 4 limbs. Orthostatic hypotension was present in all patients. This is a unique subtype of HSAN distinct from the HSAN I-V described by Dyck.
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.
