DeCure for Charcot-Marie-Tooth Disease, axonal, type 2GG
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for Charcot-Marie-Tooth Disease, axonal, type 2GG — 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 moduleCharcot-Marie-Tooth Disease, axonal, type 2GG 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 charcot-marie-tooth disease, axonal, type 2gg 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
Charcot-Marie-Tooth disease (CMT) is a rare inherited disorder of the peripheral nervous system involving degeneration of the myelin sheath and axial cylinders of nerve fibres. Despite progress in medicine, it remains a difficult problem in terms of accurate diagnosis and effective treatment. The main clinical manifestations include progressive distal muscle wasting and weakness, impaired distal sensation, and diminishing or loss of tendon reflex. Patients may be classified into demyelinating type (CMT1) and axonal type (CMT2) according to electrophysiological and pathological characteristics.
Rapid advances in molecular genetics have highlighted the great genetic complexity of CMT. By 2012, 28 genes had been cloned. The evolution from a simple clinical classification to a complex molecular one has not facilitated understanding of the disease, and the new molecular classification is not simple to use because different mutations of the same gene produce a range of phenotypes. Clinicians must look for specific clinical and electrophysiological clues to direct the patient to appropriate genetic testing.
No drug treatment is described in these abstracts. No clinical trial data, no response rates, no survival figures, and no sample sizes are reported. The 2024 review states only that the disease continues to be a difficult problem in terms of accurate diagnosis and effective treatment, without presenting any therapeutic results.
What is still missing is any evidence from controlled trials testing a specific drug for axonal CMT type 2GG, any patient stratification strategy that might identify responders, and the funding needed to conduct such trials. The abstracts provide no basis for recommending any treatment.
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 · 2007 · 88 citations
Two novel mutations in dynamin-2 cause axonal Charcot–Marie–Tooth disease
AbstractBACKGROUND: Recently, mutations affecting different domains of dynamin-2 (DNM2) were associated alternatively with autosomal dominant centronuclear myopathy or dominant intermediate (demyelinating and axonal) Charcot-Marie-Tooth disease (CMT) type B. OBJECTIVE: To assess the etiologic role of DNM2 in CMT. METHODS: We performed a mutational screening of DNM2 exons 13 through 16 encoding the pleckstrin homology domain in a large series of CMT patients with a broad range of nerve conduction velocities and without mutations in more common genes. RESULTS: We identified two novel DNM2 mutations that cosegregated with purely axonal CMT in two pedigrees without clinical evidence of primary myopathy. CONCLUSION: Patients with axonal Charcot-Marie-Tooth disease type 2 neuropathy without mutations in more common genes should undergo investigation for DNM2 pleckstrin homology.
Current Opinion in Neurology · 2007 · 26 citations
Hereditary neuropathies
AbstractPURPOSE OF REVIEW: The purpose of this review is to help neurologists understand new concepts in hereditary neuropathies, from the clinician's point of view, in the molecular era after the burst of information regarding peripheral nerve biology. RECENT FINDINGS: Recent studies have focused on understanding the pathomechanisms involved in hereditary neuropathies. In the past year identification of new genes has slowed down since scientists have concentrated more on the function of genes causing Charcot-Marie-Tooth disease and Schwann cell-axon interactions to reveal the molecular cell biology of the disease. Animal models for the most common subtypes of human Charcot-Marie-Tooth disease are now available. SUMMARY: Rapid advances in the molecular genetics and cell biology of hereditary neuropathies have highlighted the great genetic complexity of Charcot-Marie-Tooth disease. The evolution from a simple clinical classification to a complex molecular one has not facilitated our understanding of the disease. Moreover, the new molecular classification is not simple to use as different mutations of the same gene produce a range of phenotypes. The clinicians have to look for specific clinical and electrophysiological clues to direct the patient to appropriate genetic testing.
Академический журнал Западной Сибири · 2024 · 1 citations · open access
Клинический случай болезни Шарко-Мари-Тута
AbstractCharcot-Marie-Tooth disease (CMT) is a rare inherited disorder of the peripheral nervous system characterized by degeneration of the myelin sheath and axial cylinders of nerve fibers.Currently, despite significant progress in medicine, Charcot-Marie-Tooth disease continues to remain a difficult problem in terms of accurate diagnosis and effective treatment.The review provides basic information on the diagnosis, clinical picture of the disease and treatment methods.
[Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease].
AbstractCharcot-Marie-Tooth disease (CMT) is the most common form of hereditary neuropathy with significant clinical and genetic heterogeneity. So far 28 genes have been cloned. The main clinical manifestations of CMT include progressive distal muscle wasting and weakness, impaired distal sensation, and diminishing or loss of tendon reflex. Patients may be classified into demyelinating type (CMT1) and axonal type (CMT2) according to electrophysiological and pathological characteristics. Establishment of a standard diagnostic procedure based on clinical, electrophysiological and pathological findings will enable accurate diagnosis in most CMT patients and provide guidance for gene consulting and prognosis.
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.
