DeCure for Hereditary sensory and autonomic neuropathy type 2
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for hereditary sensory and autonomic neuropathy type 2 — screening already-approved drugs against its 5-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 2 maps to a 5-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 2 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
WNK lysine deficient protein kinase 1 (WNK1) — WNK1 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 anpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5WE8 · 2.006 Å · ligand PHOSPHOAMINOPHOSPHONIC ACID-ADENYLATE ESTER (ANP). Experimental structure, not a prediction.
What the evidence adds up to
A 2004 study of a Lebanese family with hereditary sensory and autonomic neuropathy type II found a 1-base-pair deletion mutation in the HSN2 gene, present in a homozygous state in all affected individuals. This mutation was novel at the time and supported the earlier identification of HSN2 as the causative gene in five families from Newfoundland and Quebec. The disorder is autosomal recessive and characterised by distal and proximal sensory loss due to reduced or absent peripheral sensory nerves.
A 1992 paper distinguished two clinical subtypes within HSAN type II: a stable congenital form and a progressive one. The authors presented two clinicopathologic cases of the nonprogressive form with morphometric correlations and reviewed published cases with histologic examination. They argued that the nonprogressive form should be considered a homogeneous disease entity, and stressed the importance of this distinction for prognosis and for the investigation of sensory, auditory, autonomic, and motor functions in affected children.
A 2004 review article summarised the clinical presentations, genetic mutations, and protein products of the hereditary motor sensory neuropathies and hereditary sensory and autonomic neuropathies. It noted that these conditions are not caused by generalised metabolic defects but by discrete genetic origins affecting specific nerve proteins, and that proper genetic identification offers better genetic counselling and, hopefully, future therapies. No specific treatment for HSAN type II was described in any of these papers.
What is still missing is any clinical trial data, any tested drug or intervention, and any patient stratification beyond the congenital versus progressive distinction. No therapy has been studied in this population, and no funding or trial design for a repurposing study has been reported.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Annals of Neurology · 2004 · 45 citations
A mutation in the <i>HSN2</i> gene causes sensory neuropathy type II in a Lebanese family
AbstractHereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder clinically characterized by distal and proximal sensory loss that is caused by the reduction or absence of peripheral sensory nerves. Recently, a novel gene called HSN2 has been found to be the cause of HSAN type II in five families from Newfoundland and Quebec. Screening of this gene in an HSAN type II Lebanese family showed a 1bp deletion mutation found in a homozygous state in all affected individuals. This novel mutation supports the hypothesis that HSN2 is the causative gene for HSAN type II.
Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathies) and Hereditary Sensory and Autonomic Neuropathies
AbstractBACKGROUND: Since the description of Charcot-Marie-Tooth disease over a century ago. it has now been recognized that these conditions are not caused by generalized metabolic defects but rather have various discrete genetic origins. These disorders can also have variable phenotypes due to dysfunction of peripheral nerve axons or their myelin due to the genetic defects that affect the formation of specific nerve proteins. REVIEW SUMMARY: This article summarizes the clinical presentation of various phenotypes of the hereditary motor sensory neuropathies and the hereditary sensory and autonomic neuropathies, genetic mutations, and their relevant protein products. Proper identification of the genetic defects provides the opportunity for better genetic counseling and hopefully therapies in the future.
Nonprogressive Type II Hereditary Sensory Autonomic Neuropathy: A Homogeneous Clinicopathologic Entity
AbstractTwo different clinical subtypes were previously identified within hereditary sensory autonomic neuropathy (HSAN) type II: a stable congenital form and a progressive one. This paper discusses two clinicopathologic cases of nonprogressive HSAN type II with morphometric correlations. In addition, a retrospective literature search was carried out to locate other cases where an accurate histologic examination, including ultrastructural features, was available in order to relate clinical and pathologic aspects of the disease. The combined data support the individualization of this neuropathic form as a homogeneous disease, as has been suggested during the last century and underline the clinical importance of this concept for the prognosis and investigation of sensory, auditory, autonomic, and motor functions in children with sensory neuropathies.
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.
