ArticleAdvanced science (Weinheim, Baden-Wurttemberg, Germany)2024
AAV-Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness.
Article in Advanced science (Weinheim, Baden-Wurttemberg, Germany), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 104 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
104 citing papers in PubMed, 2 syntheses or guidelines pooled it, 166 citations in OpenAlex.
- A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- Diabetes mellitus, hearing loss, and therapeutic interventions: A systematic review of insights from preclinical animal models.PloS one · 2024Pooled it
- AAV gene therapy for autosomal recessive deafness 9: a single-arm trial.Nature medicine · 2025Trial
- Review
- Efficacy and safety of SENS-501, a dual-AAV otoferlin gene therapy, for DFNB9 congenital deafness.Molecular therapy. Advances · 2026Article
- Rescue of stereocilia architecture and hearing function by AAV-CIB2 and AAV-CIB3 in a mouse model of recessive deafness DFNB48.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Preservation of Distortion Product Otoacoustic Emission After Cochlear Implantation in Children WithMedComm · 2026Article
- Genetic Findings in Seven Cochlear Implanted Patients with Severe-to-Profound Hearing Loss.Genes · 2026Article
- Re-administration of AAV-mediated gene therapy for OTOF-related deafness: a single-arm trial.Nature medicine · 2026Article
- Long-term restoration of auditory function in a DFNA2 mouse model by adenine base editing.EMBO molecular medicine · 2026Article
- The Genetic Causes of Auditory Neuropathy: A Systematic Review.Journal of clinical medicine · 2026Review
- Stem cell-based and gene editing strategies in the treatment of congenital and acquired sensorineural hearing loss: a narrative review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Review
- Human promoter-driven AAV tools enable precision gene therapy targeting cochlear hair cells.Cell reports. Medicine · 2026Article
- Postnatal Slc26a4 gene therapy improves hearing and structural integrity in a hereditary hearing loss model.The Journal of clinical investigation · 2026Article
- A Review of the Clinical Applicability of Neurotrophins in Cochlear Implantation.Journal of audiology & otology · 2026Review
- The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss.EBioMedicine · 2026Article
- Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Generation of marmoset monkeys with a non-mosaic disruption of the OTOF gene as a model of human deafness.Nature communications · 2026Article
- Exome sequencing identifies known and candidate genes in hearing impairment in Cameroon.Communications medicine · 2026Article
- Superenhancer-mediated ferroptosis in age-related hearing loss: cochlear epigenomics.Cellular and molecular life sciences : CMLS · 2026Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
25 authors at 8 institutions in 2 countries.
Funding
Abstract
Mutations in OTOFERLIN (OTOF) lead to the autosomal recessive deafness 9 (DFNB9). The efficacy of adeno-associated virus (AAV)-mediated OTOF gene replacement therapy is extensively validated in Otof-deficient mice. However, the clinical safety and efficacy of AAV-OTOF is not reported. Here, AAV-OTOF is generated using good manufacturing practice and validated its efficacy and safety in mouse and non-human primates in order to determine the optimal injection dose, volume, and administration route for clinical trials. Subsequently, AAV-OTOF is delivered into one cochlea of a 5-year-old deaf patient and into the bilateral cochleae of an 8-year-old deaf patient with OTOF mutations. Obvious hearing improvement is detected by the auditory brainstem response (ABR) and the pure-tone audiometry (PTA) in these two patients. Hearing in the injected ear of the 5-year-old patient can be restored to the normal range at 1 month after AAV-OTOF injection, while the 8-year-old patient can hear the conversational sounds. Most importantly, the 5-year-old patient can hear and recognize speech only through the AAV-OTOF-injected ear. This study is the first to demonstrate the safety and efficacy of AAV-OTOF in patients, expands and optimizes current OTOF-related gene therapy and provides valuable information for further application of gene therapies for deafness.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.