Last week, Akouos, Inc. (pronounced Ah-KOO-os), a Boston-based biopharmaceutical company, was granted both Orphan Drug Designation (ODD) and Rare Pediatric Disease Designation (RPDD) by the FDA for AK-OTOF, a gene therapy the company is developing to treat hearing loss caused by mutations in the otoferlin (OTOF) gene. The company is expecting to submit an investigational new drug application in the first half of 2022. These events are significant not just because they could lead to the first clinical trial to treat a genetic form of hearing loss, but also because an orphan drug and rare pediatric disease designation could mean that clinical development of the therapy can go faster.

I had the pleasure of learning about Akouos’ work from Manny Simons, PhD, the president and co-founder of the company. While some companies in the hearing research space are focused on treating noise-induced hearing loss or preventing hearing loss caused by ototoxic drugs, Akouos was founded with an initial focus on treating genetic hearing loss. “Genetic hearing loss is underappreciated and under the radar,” says Dr. Simons. “Even in our early fundraising, it was sometimes hard to convince investors of the prevalence of genetic hearing loss.” While hearing loss can be caused by many factors, 50 to 60 percent of hearing loss in babies is caused by genetic mutations, according to the Centers for Disease Control and Prevention. There are more than 150 genes that have been identified that can be tied to hearing loss, and countless more to be discovered.

The Promise of Gene Therapy

Historically, delivering medicines to the inner ear has been a challenge, and the tiny, tightly-enclosed cochlea – which transmits sound to the brain – was difficult to study. But Akouos saw promise in using gene therapy to address hearing loss. “We wanted to focus on forms of hearing loss where the biology and mechanisms were understood,” Simons explains. “This potentially gives us a higher probability of treating genetic hearing loss and addressing the root cause.”

Akouos chose to work on gene therapy first for OTOF because “everything else in the ear is intact – the connection between nerve cells is still there,” Simons explains. It affected just one thing in the ear: otoferlin, a protein involved in hearing. People with the condition have severe-to-profound hearing loss from birth. The gene therapy treatment is designed to return a healthy copy of OTOF, potentially taking a person from profoundly deaf to having functional hearing.

Listening to Those With Hearing Loss

Akouos is committed to keeping the concerns of those with hearing loss at the center of what they do. “We want to hear from the community,” says Simons. “The more we can be doing to have a bigger impact, the more effective we can be, even as the company grows.”

To that end, Akouos is sponsoring a genetic testing program called Resonate, which provides free genetic testing to people in the U.S. who have a diagnosis or medical history of auditory neuropathy.

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