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Non-Syndromic Hearing Loss and Deafness
Status: Proof of Concept
Anticipated milestone
IND Submission

Non-syndromic hearing loss and deafness (DFNB1) is an autosomal recessive disorder characterized by congenital non-progressive mild-to-profound sensorineural hearing impairment.  DFNB1 is the most common form of genetic hearing loss, accounting for nearly 30% of all cases.

DFNB1 is caused by deleterious mutation of the GJB2 gene.  This gene encodes the gap junction protein Connexin-26, which is expressed in cochlear support cells, forming gap junctions that control potassium homeostasis critical for the survival and function of hair cells and normal hearing.  Mutations in GJB2 therefore impair gap junctions and cochlear homeostasis leading to hair cell dysfunction and hearing loss.

In October 2019 AGTC entered into a strategic collaboration with Otonomy, Inc. (NASDAQ: OTIC), a biopharmaceutical company dedicated to the development of innovative therapeutics for neurotology, in order to co-develop and co-commercialize an AAV-based gene therapy to restore hearing in patients with GJB2-associated sensorineural hearing loss.  This collaboration merges AGTC’s technological capabilities and expertise in gene therapy development and manufacturing with Otonomy’s extensive experience in otological drug delivery as well as their proven preclinical and clinical infrastructure for development in neurotology.  See the press release here.


Visionary science for life changing cures.