Innovative technology platform bringing precision medicine to the inner ear: Akouos

We all know about the five senses and how important each one is to live life to the fullest. Hearing is one of the five senses which play a massive role in maintaining relationships and connections with friends and family, participating in team and community activities, and experiencing life events. Loss of hearing can be an overwhelming condition to deal with; fortunately, with the advancement of gene therapies, there are ways in which physiologic hearing can be improved. Akouos, one of the pioneers in precision genetic medicine, is helping many overcome hearing difficulties.

Akouos is a precision genetic medicine company focused on developing gene therapies with the potential to restore, improve, and preserve high-acuity physiologic hearing for people worldwide who live with disabling hearing loss. The company is combining a novel delivery approach with the latest advances in gene therapy and hearing research with the goal of restoring the natural function of the inner ear.

Why is Genetics Important in Hearing?

The cochlea, a part of the inner ear, is a spiral shaped organ containing 30,000 sensory cells evolved to help hear. Each cell, called a hair cell, has hundreds of thousands of working proteins that enable humans to convert nanometer-scale movements into electric neural signals. The structures of these proteins are based on the script provided by a person’s DNA, a copy of which is found in nearly every cell in the body. The entirety of an individual’s DNA is known as a genome, which can be thought of as an instruction set for the human body. Each line, known as a gene is the basic unit of heredity. Some genes encode proteins. A change in the DNA can result in a protein that is unable to perform its typical role. As a result, these DNA changes, in thousands of different ways, can affect the ability to hear.

How do Akouos know this?

Every year, thousands of children are born deaf or hard-of-hearing in the United States and Europe. Approximately 80% of congenital hearing loss in the United States and Europe is sensorineural hearing loss due to genetic causes. To date, over 150 genes are known to be directly linked to deafness. By comparing genetic data between deaf and hearing family members, scientists have been able to learn the identity and location of these deafness-related genes. By identifying these genes and understanding the functions of the proteins they encode, scientists can begin working to develop treatment options. One type of gene therapy aims to deliver a healthy piece of DNA to cells in the cochlea, enabling them to produce functional protein and restore hearing.

How can one get access to potential therapy?

To develop treatments for hearing loss and deafness, Akouos is bridging the scientific community’s growing understanding of hearing loss genetics with recent advances in gene therapy. First, there is a need to understand which genes are affected and how they impair hearing. Healthy copies of these genes can be encased in engineered viral vectors to enter relevant cells and enable them to produce functional proteins. Akouos is currently conducting preclinical studies to support initial clinical trials that will assess the safety and efficacy of a gene therapy for individuals with sensorineural hearing loss due to mutations in the otoferlin (OTOF) gene.

AK-OTOF

AK-OTOF is a gene therapy intended for the treatment of, and potential restoration of hearing, in individuals with sensorineural hearing loss due to mutations in the otoferlin (OTOF) gene. Normal otoferlin function enables the sensory cells of the ear (hair cells) to release neurotransmitter in response to stimulation by sound to activate auditory neurons .Without functional otoferlin protein, auditory signals received by the ear cannot be transmitted to the brain. AK-OTOF uses an adeno-associated viral (AAV) vector to deliver a healthy copy of the OTOF gene to cochlear hair cells, with the goal of restoring long-term physiologic hearing following a single administration to the inner ear. AK-OTOF is intended to treat individuals with sensorineural hearing loss due to mutations in the OTOF gene, who typically have severe to profound bilateral hearing loss from birth, by promoting the expression of normal, functional otoferlin protein in affected cells of the cochlea. Mutations in the OTOF gene are reported to be a major cause of genetic hearing loss, affecting an estimated 200,000 individuals worldwide.

Meet the leader behind the success of Akouos

Emmanuel J. (Manny) Simons, Ph.D., M.B.A., is CEO, President, and Co-Founder of Akouos. Dr. Simons is a scientist and entrepreneur with over fifteen years of experience in hearing science research and new venture formation. Prior to founding Akouos, Dr. Simons held leadership roles in business and corporate development at Voyager Therapeutics and Warp Drive Bio, where he was instrumental in leading strategic partnerships with aggregate value exceeding $1 billion. Earlier in his career, Dr. Simons was an Entrepreneurial Fellow at Flagship Ventures, where he was a member of the founding team of Seres Therapeutics. Dr. Simons earned an A.B. magna cum laude in Neuroscience and Music from Harvard College; a Ph.D. in Biomedical Engineering from MIT under Professor Robert Langer; and an M.B.A. from Harvard Business School.

“AK-OTOF is a gene therapy intended for the treatment of, and potential restoration of hearing, in individuals with sensorineural hearing loss due to mutations in the otoferlin (OTOF) gene.”