DeCure for Autosomal recessive nonsyndromic hearing loss 53
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal recessive nonsyndromic hearing loss 53 — 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 moduleAutosomal recessive nonsyndromic hearing loss 53 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 autosomal recessive nonsyndromic hearing loss 53 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
In a 1994 analysis of audiograms from 136 individuals across 28 families with nonsyndromic genetic hearing loss, 50 people from 15 families had autosomal recessive (AR) loss. The main audiogram shapes in the AR group were residual and sharply sloping. AR hearing loss was significantly more severe than autosomal dominant loss, and intrafamilial variation in the degree of loss was less marked in AR families than in dominant ones. The authors concluded that audiograms of nonsyndromic hearing loss are usually nonspecific and that counselling should be based on the specific family’s condition rather than on group data.
A 2004 clinical genetic study of 144 patients with nonsyndromic hearing loss examined sex distribution, type, degree, symmetry, laterality, progression, aetiology, and inheritance pattern. No specific drug or treatment was tested in either study. A 2017 review noted that comprehensive genetic testing using new sequencing technologies is improving diagnostic yield for congenital hearing loss, and that concerns about ionising radiation and general anaesthetic are shifting imaging preferences in infants and toddlers. The review recommended a systematic, targeted approach based on the audiologic phenotype.
No abstract in this set reports any drug intervention, repurposed or otherwise, for autosomal recessive nonsyndromic hearing loss 53. No survival or response rates are available because no treatment trial is described. What is missing is any clinical trial testing a drug for this specific genetic subtype, along with the funding and patient stratification needed to design such a trial.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Nonsyndromic Hearing Loss: An Analysis of Audiograms
AbstractWe examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There were 83 (12 families) with autosomal dominant (AD) loss, 50 (15 families) with autosomal recessive (AR) loss, and 3 (1 family) with X-linked recessive loss. The main audiogram shapes found were sloping (50.3%), residual (26.5%), and flat (21.0%). Specific shapes (ascending and U-shaped) only occurred in 3.7% of AD cases. Audiogram shapes were found to be significantly different between AD and AR families, and showed intrafamilial and interfamilial variability. In the AR group, the main shapes were residual and sharply sloping, and in the AD group, sharply sloping, flat, and gently sloping. There was a significant difference in the degree of hearing loss between AD and AR types, with AD being milder than AR. It has been shown that there is more marked intrafamilial variation in the degree of hearing loss in AD families than in AR ones. The results suggest that the audiograms of nonsyndromic hearing loss are usually nonspecific and that counseling of family members would be better based on the specific family's condition rather than on group information.
Current Opinion in Otolaryngology & Head & Neck Surgery · 2017 · 22 citations
Evaluation and management of nonsyndromic congenital hearing loss
AbstractPURPOSE OF REVIEW: Nonsyndromic congenital hearing loss represents the largest proportion of paediatric sensorineural hearing loss. The optimal evaluation and management of affected patients remains clinically challenging. Current controversies in the diagnostic work-up of nonsyndromic congenital hearing loss are presented in this review. RECENT FINDINGS: The improved diagnostic yield of comprehensive genetic testing due to new sequencing technologies is changing the diagnostic for congenital hearing loss. Concerns for both ionizing radiation and general anaesthetic exposure are also driving shifts in imaging modality preferences for infants and toddlers. SUMMARY: A thoughtful systematic, targeted approach taking into consideration the audiologic phenotype of the patient is recommended for the work-up of nonsyndromic congenital hearing loss.
American Journal of Audiology · 2004 · 1 citations
Clinical Genetic Study of 144 Patients With Nonsyndromic Hearing Loss
AbstractHearing loss constitutes an important category of congenital defects that can be isolated or part of the phenotypic spectrum of several syndromes. A clinical genetic study was performed on a sample of 144 patients with nonsyndromic hearing loss, establishing the sex distribution, type, degree, symmetry, laterality, progression, etiology, and, when possible, inheritance pattern.
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.
