Jay Rubinstein, MD, PhD: Why children should receive genetic testing for hearing loss
Jay T. Rubinstein, MD, PhD, emphasized that children with hearing loss should receive genetic testing, as the investigational DB-OTO gene therapy demonstrated positive results.
Regeneron Pharmaceuticals’ DB-OTO gene therapy has demonstrated positive results for children with profound genetic hearing loss, as highlighted in the phase 1/2 CHORD trial (NCT05788536).1
According to results presented at the Association for Research in Otolaryngology’s (ARO) 48th Annual MidWinter Meeting, and previously reported by Contemporary Pediatrics, 10 of the 11 children with at least one post-treatment assessment demonstrated improvements in hearing, with the first child treated at 10 months of age showing significant speech and developmental progress at 72 weeks.
Jay T. Rubinstein, MD, PhD, Virginia Merrill Bloedel Professor of Otolaryngology and Bioengineering at the University of Washington School of Medicine and CHORD trial investigator, joined Contemporary Pediatrics to discuss the initial paradigm shift that is occurring in the profound genetic hearing loss space.
“All children with hearing loss should receive genetic testing, because it’s clear we’re now entering a new era,” Rubinstein stated.
“I’ve been studying cochlear implants since before companies actually made cochlear implants, and so I’ve observed what’s been possible, what’s been made possible over the years,” he said. “It’s very clear that we are now entering a new era of hearing restoration.”
The CHORD trial data support this shift. As of February 24, 2025, 12 participants have received DB-OTO, with 9 receiving intracochlear injections in 1 ear and 3 treated bilaterally. The first patient dosed demonstrated near-normal hearing at multiple speech frequencies at 48 weeks. By 72 weeks, the child could recognize words such as “mommy,” “cookies,” and “airplane” without visual cues.
Despite his initial skepticism, Rubinstein now strongly advocates for genetic testing. “I’ve always been the naysayer about all of this… and to me, I never bought it, because it didn’t make a difference in what we did. Now, it clearly will,” he stated. “Any child who has any evidence of hearing loss during their newborn hearing screening should undergo genetic testing to figure out what may be possible for them during their lifetime.”
Rubinstein acknowledged the groundbreaking nature of this intervention.
“If I had a kid who had hearing loss right now, the first thing I would do is make sure they get genetic testing, because this potentially will open up whole new possibilities,” he concluded.
Rubinstein discloses a research grant from Regeneron.
References:
1. Fitch, J. DB-OTO demonstrates improved hearing in 10 of 11 children with profound genetic hearing loss. Contemporary Pediatrics. February 24, 2025. Accessed March 31, 2025. https://www.contemporarypediatrics.com/view/db-oto-demonstrates-improved-hearing-in-10-of-11-children-with-profound-genetic-hearing-loss
2. Fitch, J. Jay Rubinstein, MD, PhD, explains DB-OTO gene therapy in children with profound hearing loss. Contemporary Pediatrics. March 7, 2025. Accessed March 31, 2025. https://www.contemporarypediatrics.com/view/jay-rubinstein-md-explains-db-oto-gene-therapy-in-children-with-profound-hearing-loss
