Gene therapy approach to Usher syndrome type 1F using compact PCDH15 in the inner ear
Official title: Development of Gene Therapy for Hereditary Deafness using Rational Protein Engineering
Funded at Massachusetts Eye and Ear Infirmary · NIH-11370142 · Data updated 2026-11-12
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.
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 | 2026 |
| Award (this year) | $652,112 |
| NIH project number | 5R01DC020190-05 |
| Project ID | NIH-11370142 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with Usher syndrome Type 1F caused by PCDH15 mutations who may benefit from a gene therapy delivering a compact PCDH15 construct.
✕Less likely to help
Patients without Usher syndrome Type 1F or without PCDH15 mutations may not benefit from this approach.
What this research studies
This project focuses on creating a gene therapy strategy for Usher syndrome Type 1F, a genetic condition causing deafness and progressive vision loss. The plan is to use adeno-associated virus (AAV) vectors to deliver a smaller, functional version of the PCDH15 gene to the inner ear to restore or preserve hearing. Researchers are designing “mini-PCDH15” constructs that keep essential binding regions while fitting within AAV’s size limits, aiming for a therapy that could move toward clinical testing. The work combines gene therapy development with preclinical testing to address a specific human hereditary condition that currently has no treatment.
Why it matters
Potential benefit: If successful, this therapy could offer improved hearing and balance, and potentially slow or prevent vision loss for some Usher syndrome patients.
How similar studies have gone: Previous gene therapy efforts for inner-ear disorders show promise, but this project explores a novel compact PCDH15 design specific to Usher 1F.
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
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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.
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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.