Boston Children’s Hospital has established itself as a central figure in the global effort to treat genetic conditions, particularly through a specialized pediatric gene therapy program. The hospital’s approach relies on a combination of clinical experience and research into emerging therapies for rare and difficult-to-treat disorders, including hereditary hearing loss.
Treating hearing loss through gene therapy
Up to 60 percent of children born with hearing loss have an identifiable genetic cause. Mutations in at least 150 genes have been implicated in hearing loss, and each of these disrupts the process in a different way. The team at Boston Children’s has focused on treating these conditions early, noting that intervention in the first one to four years of life can allow children to acquire normal spoken language and connect better with others socially.
In May 2025, a young boy became one of the first patients with hereditary hearing loss to receive gene therapy at the hospital. He received an injection delivering a healthy copy of the OTOF gene into the cochlea of his inner ear. This procedure is only the first step in a pipeline of therapies for hearing loss, with the team planning to advance several other treatments to clinical trials over the next decade. The hospital is currently developing other types of gene therapy for hearing loss and is in discussions with potential industry partners to facilitate these trials.
Dr. Eliot Shearer, an otolaryngologist at Boston Children’s, observes that the conversation surrounding treatment options has changed significantly in recent years. “How we discuss hearing loss with our patients and families is different even from two years ago,” Shearer said. “There are now more options to inform our decisions.”
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Infrastructure and specialized care
The hospital’s program distinguishes itself through a dedicated infrastructure designed to move patients through the process efficiently. The core team collaborates closely with disease experts at Boston Children’s Hospital and the Dana-Farber Cancer Institute, and the facility offers a satellite training module to support referring physicians. This structure allows children to move smoothly from study enrollment to treatment.
Coordination extends across multiple disciplines, including ophthalmology, otolaryngology, neurology, and genetics, as well as with academic and pharmaceutical partners in the U.S. and abroad. The hospital is a founding member of the Transatlantic Gene Therapy Consortium, which seeks to combine expertise from various centers treating rare diseases.
Currently, the program offers gene therapy for specific conditions, including aromatic L-amino acid decarboxylase deficiency, X-linked severe combined immunodeficiency, and X-linked chronic granulomatous disease. The hospital also treats relapsed or treatment-resistant forms of leukemia and lymphoma in older patients. This network of specialized care provides patients and families with access to cutting-edge therapies and coordinated support.
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