PHILADELPHIA, PENNSYLVANIA — Children’s Hospital of Philadelphia (CHOP) announced the initial results of an experimental gene therapy treatment for a patient with hereditary hearing loss in the United States. Findings to date indicate the treatment was successful. While the specific gene involved is quite rare, the milestone represents a breakthrough in treating patients around the world with hearing loss caused by dozens of different genetic mutations.
It also marks an innovative advance for gene and cell therapy in a new area of medicine.
“Gene therapy for hearing loss is something physicians and scientists have been working toward for over 20 years, and it is finally here,” said Dr. John A. Germiller, MD, PhD, an attending surgeon and Director of Clinical Research in the Division of Otolaryngology at CHOP, and Associate Professor at Penn Medicine.
“While the gene therapy we performed was for one very rare gene, these studies may open the door for future use with some of the over 150 other genes that cause childhood hearing loss.”
Children’s Hospital of Philadelphia Performs First in U.S. Gene Therapy Procedure to Treat Genetic Hearing Loss
Opening Door to Future Treatments
An 11-year-old born with profound hearing loss due to a mutation in the otoferlin (OTOF) gene was the first patient to receive this therapy in the U.S. On October 4, 2023, the gene therapy was placed into the inner ear using an endoscope to partially lift the eardrum and insert an investigational device through the “round window,” a tiny opening into the cochlea. A small dose of the gene therapy AK-OTOF containing normal OTOF genes was then delivered directly to the inner ear.
This represents the first use of gene therapy as a potential treatment for hereditary hearing loss in the United States.
Now, almost four months after receiving the therapy in one ear, the patient’s hearing has improved from profound deafness to mild-moderate loss in that ear. He is hearing sounds like his father’s voice and car horns for the first time.
While hearing loss has many causes, it can also result from mutations in over 150 genes. Gene therapy aims to restore hearing by delivering normal genes into the inner ear. The genes allow sensory cells to function and activate the auditory nerve. The genes are encased in a modified non-disease-causing virus, enabling delivery into the cochlea.
CHOP is one of several sites in the AK-OTOF-101 clinical trial, sponsored by Akouos, Inc., a subsidiary of Eli Lilly and Company. This builds on CHOP’s legacy as a leader in breakthrough gene therapy. The minimally invasive surgical approach was pioneered at CHOP 10 years ago by Dr. Germiller.
“As more patients are treated, researchers will learn about the degree and duration of hearing improvement,” said Dr. Germiller. “What we have learned so far will help direct efforts to help as many patients as possible.”
To learn more about this clinical trial, visit: https://www.otofclinicaltrial.com/ak-otof-101-study.
About Children’s Hospital of Philadelphia:
A non-profit, charitable organization, Children’s Hospital of Philadelphia was founded in 1855 as the nation’s first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, the hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. The institution has a well-established history of providing advanced pediatric care close to home through its CHOP Care Network, which includes more than 50 primary care practices, specialty care and surgical centers, urgent care centers, and community hospital alliances throughout Pennsylvania and New Jersey, as well as the Middleman Family Pavilion and its dedicated pediatric emergency department in King of Prussia. In addition, its unique family-centered care and public service programs have brought Children’s Hospital of Philadelphia recognition as a leading advocate for children and adolescents.
Source: CHOP
