Boston Children’s Hospital is home to one of the largest pediatric gene therapy programs in the world, driven by clinical expertise and pioneering research in emerging gene therapies, particularly for rare and difficult-to-treat conditions. Those conditions include hereditary hearing loss, which has been a recent area of innovation at Boston Children’s.
Gene therapy for hereditary hearing loss: Research in action
Up to 60 percent of children born with hearing loss have an identifiable genetic cause. To date, mutations in at least 150 genes have been implicated in hearing loss. Each disrupts hearing differently. If gene therapy is done early, in the first one to four years of life, children can acquire normal spoken language and connect better with others socially.
In May 2025, a young boy received an injection delivering a healthy copy of a gene called OTOF into the cochlea of his inner ear – one of the first patients with hereditary hearing loss to receive gene therapy at Boston Children’s. The treatment is just the first in a pipeline of gene therapies for hearing loss. The team hopes to advance several other gene therapies to clinical trials over the next decade.
For example, Boston Children’s is currently developing other types of gene therapy for hearing loss and is in discussions with potential industry partners to move these therapies into clinical trials.
Such advances lead to one crucial outcome: improvements in patient care.
“How we discuss hearing loss with our patients and families is different even from two years ago,” says Boston Children’s otolaryngologist Eliot Shearer, MD, PhD. “There are now more options to inform our decisions.”
Gene therapy at Boston Children’s Hospital
What makes Boston Children’s Gene Therapy Program unique is its dedicated infrastructure. The core team collaborates closely with disease experts at two of the world’s leading academic medical institutions – Boston Children’s Hospital and Dana-Farber Cancer Institute. An efficient enrollment process allows children to move smoothly and quickly from study enrollment to treatment. We also offer a one-of-a-kind satellite training module to support referring physicians.
The program works closely with Boston Children’s specialists in ophthalmology, otolaryngology and communication enhancement, neurology, neurosurgery, pulmonary medicine, genetics and genomics, and metabolism, as well as academic and pharmaceutical partners in the U.S. and abroad. We are a founding member of the Transatlantic Gene Therapy Consortium, which seeks to combine the expertise from a number of centers treating rare diseases with different platforms.
In addition, our Gene Therapy Program offers patients and referring providers:
- Multidisciplinary expertise: Integrated care across specialties
- Access to cutting-edge therapies: Participation in national and international clinical trials on gene therapy
- Coordinated experience for families and physicians: Dedicated international coordinators streamline referrals, scheduling, and ongoing communication
We currently offer gene therapy for these conditions or plan to in the near future:
- Adrenoleukodystrophy (ALD)
- Aromatic L-amino acid decarboxylase (AADC) deficiency
- Beta thalassemia
- Duchenne muscular dystrophy
- Hemophilia A
- Inherited retinal disorders
- Metachromatic leukodystrophy
- Sickle cell disease
- Spinal muscular atrophy (SMA)
- Wiskott-Aldrich syndrome
- X-linked severe combined immunodeficiency (SCID-X1)
- X-linked chronic granulomatous disease (X-CGD)
- Relapsed or treatment-resistant B-cell acute lymphoblastic leukemia (ALL)
- Relapsed or refractory large B-cell lymphoma (patients 18 and older)
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