Natural History of Autosomal Dominant Hearing Loss

Launched by NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS (NIDCD) · Aug 5, 2020

Keywords

ClinConnect Summary

This clinical trial is studying the genetic causes of a type of hearing loss called autosomal dominant non-syndromic hearing loss (DFNA). Researchers are trying to better understand how these genes affect hearing, not only in individuals with DFNA but also in their family members. The ultimate goal is to explore new treatment options, like gene editing, which could potentially help people with this type of hearing loss.

To participate, individuals aged 3 to 99 who have DFNA or are family members of someone with DFNA may be eligible. Participants will undergo a series of tests, including hearing and balance assessments, and some may provide blood samples for genetic testing. They might also have a small skin biopsy, where a tiny piece of skin is taken for study. Participation in the trial can last up to 20 years, with annual check-ins to provide updates on health. This trial offers a chance to contribute to important research that may lead to better treatments for hearing loss in the future.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • Affected persons with autosomal dominant hereditary sensorineural hearing loss, preferably confirmed by prior genetic testing
• • Affected family members of enrolled participants with known autosomal dominant hereditary hearing loss
• • Unaffected Family Members (Healthy Volunteers) of enrolled participant
• • Adults must be able to provide informed consent
• • Minors must have a parent or guardian able to provide informed consent
• • Subjects must be 3-99 years of age
• EXCLUSION CRITERIA:
• • Persons with sensorineural hearing loss (SNHL) and/or peripheral vestibular dysfunction associated with a non-genetic etiology such as infection, metabolic or immunologic disorders, or exposure to ototoxic agents such as cisplatin, or aminoglycoside antibiotics will not be included in this protocol.
• • Persons with sensorineural hearing loss known to be associated with surgical intervention (e.g. acoustic neuroma removal, failed stapedectomy).
• • Prospective study subjects who are cognitively impaired and lack consent capacity, will not be enrolled. The pre-screening eligibility checklist, which will be used and documented for registration under this protocol, is provided in a separate document.