DeCure for Auditory neuropathy, autosomal dominant 3
DeCure's autonomous Neuro AI scientist is researching a drug-repurposing hypothesis for auditory neuropathy, autosomal dominant 3 — 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 moduleAuditory neuropathy, autosomal dominant 3 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 auditory neuropathy, autosomal dominant 3 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
Auditory neuropathy is defined by the presence of cochlear microphonic potentials alongside absent or altered click-evoked auditory brainstem responses. In a 1999 study of 20 infants and young children meeting these criteria, the prevalence in an at-risk infant population was 1 in 433 (0.23%). Behavioural hearing thresholds ranged from normal to profound, and speech discrimination skills were variable. Approximately half of the subjects showed little understanding or awareness of speech in both unaided and aided conditions, though some children could score at significant levels on speech discrimination tasks and benefited from amplification. The authors concluded that management must allow for individual differences.
A 2015 prospective study from a tertiary hospital in South India reported a frequency of auditory neuropathy spectrum disorder of 1.12% among ENT and neurology patients. Neurological involvement was found in 60% of cases, including cerebral palsy in children, peripheral neuropathy, spinocerebellar ataxia, hereditary motor-sensory neuropathy, spastic paresis, and ponto-bulbar palsy. Neurological lesions did not present simultaneously with hearing loss in most patients. Sixty-six percent of patients were born of consanguineous marriages, and the authors indicated a hereditary aetiology in a majority of cases.
A 2016 molecular study noted that four loci have been mapped for non-syndromic auditory neuropathy: autosomal recessive DFNB9 (OTOF gene) and DFNB59 (PJVK gene), autosomal dominant AUNA1 (DIAPH3 gene), and X-linked AUNX1. Mutations in GJB2 (connexin 26) have also been associated. Over 80 pathogenic OTOF mutations have been identified, with the p.Q829X mutation found in approximately 3% of deafness cases in the Spanish population. In a cohort of 47 patients with hearing loss and clinical diagnosis of auditory neuropathy, the c.35delG mutation in GJB2 was found in three homozygous patients, and OTOF gene mutations were tracked by complete sequencing of 48 exons, though those results were reported as preliminary.
No drug treatment is mentioned in any of these abstracts. What remains missing is any therapy that targets the underlying pathophysiology, whether genetic or otherwise. The 2016 study notes that identifying genetic alterations is a challenge for understanding molecular bases and developing more specific treatments, but no such treatment is described. No trial design, no patient stratification strategy, and no funding for a drug-repurposing study is 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.
Ear and Hearing · 1999 · 461 citations
Clinical Findings for a Group of Infants and Young Children with Auditory Neuropathy
AbstractOBJECTIVE: To examine the prevalence of auditory neuropathy in a group of infants at risk for hearing impairment and to present an overview of the clinical findings for affected children. DESIGN: Results for 20 subjects who showed repeatable cochlear microphonic potentials in the absence of click-evoked auditory brain stem responses are included in this study. Behavioral and steady state evoked potential thresholds were established in each case. Where possible, otoacoustic emission and speech perception results (unaided and aided) also were obtained. RESULTS: One in 433 (0.23%) of the children in our series had evidence of auditory neuropathy. The audiometric findings for these subjects varied significantly, with behavioral thresholds ranging from normal to profound levels. Discrimination skills were also variable. Approximately half of the subjects showed little understanding, or even awareness, of speech inputs in both the unaided and aided conditions. There were, however, a number of children who could score at significant levels on speech discrimination tasks and who benefited from the provision of amplification. CONCLUSION: The results suggest that auditory neuropathy is more common in the infant population than previously suspected. The effects of neuropathy on auditory function appear to be idiosyncratic, producing significant variations in both the detection and discrimination of auditory signals. As such, the management of children with this disorder must allow for individual differences.
Molecular Medicine Reports · 2016 · 19 citations · open access
Molecular study of patients with auditory neuropathy
AbstractAuditory neuropathy is a type of hearing loss that constitutes a change in the conduct of the auditory stimulus by the involvement of inner hair cells or auditory nerve synapses. It is characterized by the absence or alteration of waves in the examination of brainstem auditory evoked potentials, with otoacoustic and/or cochlear microphonic issues. At present, four loci associated with non‑syndromic auditory neuropathy have been mapped: Autosomal recessive deafness‑9 [DFNB9; the otoferlin (OTOF) gene] and autosomal recessive deafness‑59 [DFNB59; the pejvakin (PJVK) gene], associated with autosomal recessive inheritance; the autosomal dominant auditory neuropathy gene [AUNA1; the diaphanous‑3 (DIAPH3) gene]; and AUNX1, linked to chromosome X. Furthermore, mutations of connexin 26 [the gap junction β2 (GJB2) gene] have also been associated with the disease. OTOF gene mutations exert a significant role in auditory neuropathy. In excess of 80 pathogenic mutations have been identified in individuals with non‑syndromic deafness in populations of different origins, with an emphasis on the p.Q829X mutation, which was found in ~3% of cases of deafness in the Spanish population. The identification of genetic alterations responsible for auditory neuropathy is one of the challenges contributing to understand the molecular bases of the different phenotypes of hearing loss. Thus, the present study aimed to investigate molecular changes in the OTOF gene in patients with auditory neuropathy, and to develop a DNA chip for the molecular diagnosis of auditory neuropathy using mass spectrometry for genotyping. Genetic alterations were investigated in 47 patients with hearing loss and clinical diagnosis of auditory neuropathy, and the c.35delG mutation in the GJB2 gene was identified in three homozygous patients, and the heterozygous parents of one of these cases. Additionally, OTOF gene mutations were tracked by complete sequencing of 48 exons, although these results are still preliminary. Studying the genetic basis of auditory neuropathy is of utmost importance for obtaining a differential diagnosis, developing more specific treatments and more accurate genetic counseling.
Annals of Indian Academy of Neurology · 2015 · 5 citations · open access
Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India
AbstractAIMS: To find out the prevalence and types of neurological abnormalities associated in auditory neuropathy spectrum disorder in a large tertiary referral center. SETTINGS AND DESIGN: A prospective clinical study was conducted on all patients diagnosed with auditory neuropathy spectrum disorder in the ear, nose, and throat (ENT) and neurology departments during a 17-month period. Patients with neurological abnormalities on history and examination were further assessed by a neurologist to determine the type of disorder present. RESULTS: The frequency of auditory neuropathy spectrum disorder was 1.12%. Sixty percent were found to have neurological involvement. This included cerebral palsy in children, peripheral neuropathy (PN), spinocerebellar ataxia, hereditary motor-sensory neuropathy, spastic paresis, and ponto-bulbar palsy. Neurological lesions did not present simultaneously with hearing loss in most patients. Sixty-six percent of patients with auditory neuropathy spectrum disorder were born of consanguineous marriages. CONCLUSIONS: There is a high prevalence of neurological lesions in auditory neuropathy spectrum disorder which has to be kept in mind while evaluating such patients. Follow-up and counselling regarding the appearance of neuropathies is therefore important in such patients. A hereditary etiology is indicated in a majority of cases of auditory neuropathy spectrum disorder.
Hematology Reports · 2026 · 0 citations · open access
Bortezomib-Induced Sensorineural Hearing Loss May Be Reversible with Intratympanic Dexamethasone
AbstractBackground: Bortezomib, a proteasome inhibitor used in multiple myeloma (MM), is associated with several adverse effects, most notably peripheral neuropathy. Ototoxicity, however, remains a rare and underrecognized complication. Case presentation: We report the case of a 74-year-old man with MM who developed sudden unilateral sensorineural hearing loss following subcutaneous bortezomib administration. Audiometry confirmed severe right-sided hearing loss. MRI of the internal auditory canal was normal. Given the absence of other ototoxic agents, bortezomib was identified as the likely causative drug. The patient was treated with intratympanic dexamethasone injections, achieving partial hearing recovery. Subsequent chemotherapy re-exposure triggered another hearing decline, which again improved after repeated intratympanic treatment. Conclusions: Bortezomib-related ototoxicity is a rare but potentially reversible adverse event. This case suggests that early intratympanic corticosteroid therapy may mitigate cochlear injury, allowing continuation of chemotherapy for patients responding well to bortezomib.
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.
