Gene Therapy for Inherited Deafness and Blindness
Official title: Development of Gene Therapy for Hereditary Deafness using Rational Protein Engineering
Funded at Massachusetts Eye and Ear Infirmary · NIH-11105969 · Data updated 2026-11-12
This work explores a new gene therapy to help people with Usher syndrome type 1F, a condition that causes profound deafness and progressive blindness.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts Eye and Ear Infirmary NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | June 17, 2022 |
| Project end | May 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $655,725 |
| NIH project number | 5R01DC020190-04 |
| Project ID | NIH-11105969 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates would be patients diagnosed with Usher syndrome type 1F caused by mutations in the PCDH15 gene.
✕Less likely to help
Patients with other forms of hereditary deafness or blindness not linked to the PCDH15 gene may not benefit from this specific therapy.
What this research studies
Deafness and blindness can be very isolating, and Usher syndrome type 1F, caused by a specific gene defect, currently has no treatment. Our team is working on a gene therapy approach using a modified virus to deliver a corrected gene to the inner ear and eye. The challenge is that the gene involved, PCDH15, is too large for standard delivery methods, so we are creating smaller, 'mini' versions of this gene that still work effectively. We hope this innovative strategy can restore hearing and vision for those affected by this devastating condition.
Why it matters
Potential benefit: If successful, this gene therapy could offer a treatment for Usher syndrome type 1F, potentially restoring hearing and preventing blindness.
How similar studies have gone: While adeno-associated virus (AAV) vectors have shown promise in delivering gene therapies to the inner ear, the specific 'mini-PCDH15' constructs being developed here are novel.
Where this research is happening
-
Massachusetts Eye and Ear Infirmary
Boston, United States Active
Researchers
- Principal investigator: Indzhykulian, Artur — Massachusetts Eye and Ear Infirmary
- Study coordinator: Indzhykulian, Artur
Related research
Other NIH-funded projects on the same topics.
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How microtubules help inner-ear hair cells develop and prevent deafness
Researchers are looking at how a gene called Cep85l helps inner-ear hair cells build the tiny bundles needed for hearing, which could explain some inherited hearing loss.
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Gene therapy approach to Usher syndrome type 1F using compact PCDH15 in the inner ear
A researcher team is developing a compact gene therapy using specially designed PCDH15 pieces delivered by AAV to the inner ear to help people with Usher syndrome type 1F.
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New genes for early-onset hearing loss and precision medicine
Researchers are trying to identify genetic causes of hearing loss present at birth or in early childhood to enable earlier, DNA-based diagnoses and future gene-based therapies.
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Optimizing how CI users hear in busy real-world environments
This grant studies how to improve speech understanding and spatial hearing for people using cochlear implants, especially those with implants in both ears or with single-sided deafness.
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Improving genetic testing for hearing loss
This project works to make genetic test results clearer and more useful for people with inherited hearing loss.
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How Usher-1 proteins in inner-ear hair cells affect hearing
This project looks at how key Usher-1 proteins help tiny hair cells in the inner ear work and how problems in these proteins lead to inherited hearing and vision loss for people with Usher syndrome.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.