Clinical Analysis of Disorders of Hearing and Balance

National Institute On Deafness And Other Communication Disorders

Investigators

Linked publications, trials & patents

Abstract

The Auditory and Vestibular Clinical Research Section (AVCRS) continued and expanded our protocol, Normative Values in Audiovestibular Testing. This protocol is used to establish normal reference ranges and control data for comparison to results obtained for various patient groups in our collaborative research endeavors. We are examining the effects of various methodologies, stimulus characteristics, and subject characteristics (e.g., age, sex) on normal function, and are evaluating variability of auditory and vestibular measures over time. Our recent work is targeting earliest detection in auditory changes that hold promise to expedite the identification of changes in hearing in several populations. We are currently implementing a sub-study to define normal ranges and stability of otoacoustic emission measures and electrocochleography in support of work conducted with Dr. Hoa (NIDCD, see below) as well as establish long-term serial measurement stability for a variety of collaborative research efforts. Most notably, we have expanded to a lifespan approach and boothless technology applications to extend the point of care and accessibility for evaluation. NIDCD collaborations include work with the following PIs: Dr. Hertzano in support of translational research efforts investigating sex-based differences of inner ear function and susceptibility to hearing loss as well as data science and data sharing collaborative initiatives. Dr. Cunningham in her work examining the effect of statins in prevention of cisplatin ototoxicity. This includes a retrospective study (Fernandez et al., 2021) and a prospective U01 clinical trial that has launched. This work has expanded to a partnership with Dr. Clint Allen of NCI to explore ototoxicity and a recent collaborative publication (Hamach et al., 2025). Dr. Hoa in development, design and implementation of his translational research protocol examining characteristics of fluctuating hearing loss. Data collection encompasses healthy normal function as well as affected participants experiencing fluctuating hearing loss. Dr. Chien, in development, design and implementation of his longitudinal protocol examining the time course of hearing loss in patients/families with autosomal dominant non-syndromic hearing loss and in support of his development of a new protocol looking at functional balance problems experienced by persons with Usher syndrome. We are currently partnering with Dr. Chien to explore translational science pathways for gene therapies for hearing loss. Trans-NIH Collaborations (non-exhaustive list) With Drs. Williamson & Anjum (NIAID), we continue to evaluate patients with non-HIV cryptococcal meningitis and abnormalities involving the auditory system associated with pulse-taper steroids (Anjum et al., 2021) With Dr. Porter (NICHD), we continued participation in a natural history study of Niemann Pick type C disease. Additionally, we continue previous work with Dr. Porter and colleagues to examine auditory function in patients with Smith-Lemli-Opitz syndrome (Zalewski et al., 2021). With Dr. Widemann (NCI), we continue to investigate auditory function in persons with neurofibromatosis type I (NF1) receiving a MEK inhibitor therapy and have recently published a phenotype manuscript describing auditory function in patient with NF1 (Idowu & Christensen, et al., 2022). With investigators from NHLBI, NIAID and NCI, we continue to manage a comprehensive surveillance program for persons participating in treatments and clinical trials in which there may be risk of ototoxicity. These include aminoglycoside antibiotics, platinum-based anti-neoplastic compounds, new agents and radiation therapy for brain tumors. We are preparing a manuscript on prevalence and risk factors for amikacin ototoxicity (Chisholm et al.) in collaboration with NHLBI investigators (Olivier & Fennelly). Contributed deep phenotyping protocols in natural history studies of hearing loss & vestibular function, and relationships to other aspects of diseases/disorders and genotype include: spinocerebellar ataxia type-7 (Huryn, NEI), Batten disease/CLN3 (Dang Do, NICHD), relapsing polychrondritis (Ferrada and Grayson, NIAMS), congenital disorders of glycosylation (Wolfe, NHGRI), gangliosidosis types 1&2 (Tifft, NHGRI), GATA2 (Holland, NIAID), McCune Albright Syndrome (Boyce, NIDCR), and osteogenesis imperfecta (Marini, NICHD), propionic acidemia (Venditti, NHGRI). Continued clinical characterization of auditory & vestibular function of patients in the Undiagnosed Diseases Program (Dr. Gahl, NHGRI) and continued clinical support to other protocols and ICs across the NIH. Noteworthy extramural collaborations: External collaborations through the HEARShare consortium are currently investigating how to better leverage data visualization and analysis tools (e.g., POD-Vis) to handle large-scale data sets. This project involves pursuance of grant funding to facilitate data sharing opportunities and strengthen the collaborative network of scalable hearing (and potential vestibular) data. Additional data collaborations with intramural and extramural software developers, we have developed and expanded the current utility of our audiometric data tracking software to integrate and leverage disease-specific coding to enhance data-driven efforts. We continued our effort to fully integrate audiovestibular results directly into the electronic medical record and interfacing electronic systems to support automated electronic data flows. With our continued support from NIH STRIDES funding (Science and Technology Research Infrastructure for Discovery, Experimentation, and Sustainability Initiative), we successfully implemented and enhanced a cloud-based Azure data storage infrastructure to automatically store all hearing data. Together with extramural collaborations, we aim to extend this storage infrastructure to include auditory evoked potential (AEP) and otoacoustic emission (OAE) data and incorporate all hearing-related data to an NIDCD-specific data visualization tool (launched internally) to increase access for real-time data analytics. Such efforts work towards efforts of potentially increasing access to large data sharing opportunities both within the intramural NIH programs and across intramural and extramural