DeCure for Hereditary motor and sensory neuropathy type 6
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for hereditary motor and sensory neuropathy type 6 — 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 moduleHereditary motor and sensory neuropathy type 6 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 hereditary motor and sensory 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.
Molecular view
mitofusin 2 (MFN2) — MFN2 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 gdpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6JFK · 1.997 Å · ligand GUANOSINE-5'-DIPHOSPHATE (GDP). Experimental structure, not a prediction.
What the evidence adds up to
Two siblings with hereditary motor and sensory neuropathy type III were described in 1992. Their parents both had autosomal dominant axonal HMSN, and the siblings’ more severe neuropathy was attributed to homozygous expression of the HMSN II gene. The authors concluded that HMSN III is heterogeneous and includes the most severe homozygous expression of neuropathic genes, citing other reports of homozygous HMSN I as supporting evidence. No treatment or intervention was tested.
A 2023 review of hereditary neuropathies notes that clinical genetic testing has broadened the recognised spectrum of subtypes and revealed significant phenotypic overlap for single genes. New subtypes such as SORD-related neuropathy and CANVAS have emerged. The review states that optimisation of clinical management has improved gait and motor function in adults and children, and that novel therapeutic approaches are entering clinical trials. It does not report any specific drug, survival data, or response rates for HMSN type 6.
A 2004 case report describes HMSN type Ia with cerebellar hypoplasia and ataxia, noting that a duplication in the PMP-22 gene is found predominantly in HMSN Ia but that certain mutations can cause different clinical entities. No treatment or outcome data are given.
No abstract in this set reports a clinical trial, a drug, or any quantitative measure of efficacy for hereditary motor and sensory neuropathy type 6. What is missing is any dedicated trial for this subtype, any patient stratification by genotype, and any funding for such work.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neurology · 1992 · 44 citations
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene
AbstractWe describe two siblings with hereditary motor and sensory neuropathy (HMSN) type III. Their parents were both affected with autosomal dominant axonal HMSN. The neuropathy in the siblings probably resulted from homozygous expression of the HMSN II gene. Together with other reports of homozygous HMSN I, this family suggests that HMSN III is heterogenous and encompasses the most severe homozygous expression of neuropathic genes.
CONTINUUM Lifelong Learning in Neurology · 2023 · 6 citations
Hereditary Neuropathies
AbstractOBJECTIVE: This article provides an overview of hereditary neuropathies, describes the different hereditary neuropathy subtypes and the clinical approach to differentiating between them, and summarizes their clinical management. LATEST DEVELOPMENTS: Increasingly available clinical genetic testing has broadened the clinical spectrum of hereditary neuropathy subtypes and demonstrated a significant overlap of phenotypes associated with a single gene. New subtypes such as SORD -related neuropathy and CANVAS (cerebellar ataxia, neuropathy, vestibular areflexia syndrome) have emerged. The optimization of clinical management has improved gait and motor function in the adult and pediatric populations. Novel therapeutic approaches are entering clinical trials. ESSENTIAL POINTS: Hereditary neuropathies constitute a spectrum of peripheral nerve disorders with variable degrees of motor and sensory symptoms, patterns of involvement, and clinical courses.
Hereditary motor and sensory neuropathy (HMSN) Ia with cerebellar hypoplasia and ataxia
AbstractIntroduction: Hereditary Motor and Sensory neuropathies (HMSN) are common inherited diseases with marked variability in phenotypic expression. In the past classification and diagnosis relied on clinical and electrophysiological features. Today molecular analysis of known mutations can establish diagnosis of HMSN. A duplication in the PMP-22-Gene is found predominantly in HMSN type Ia. It has been shown however, that certain mutations could cause different clinical entities.
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.
