Gene Therapy for Inherited Deafness and Blindness
Development of Gene Therapy for Hereditary Deafness using Rational Protein Engineering
['FUNDING_R01'] · MASSACHUSETTS EYE AND EAR INFIRMARY · NIH-11105969
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS EYE AND EAR INFIRMARY (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11105969 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates would be patients diagnosed with Usher syndrome type 1F caused by mutations in the PCDH15 gene.
Not a fit: Patients with other forms of hereditary deafness or blindness not linked to the PCDH15 gene may not benefit from this specific therapy.
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 performed: 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
BOSTON, UNITED STATES
- MASSACHUSETTS EYE AND EAR INFIRMARY — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: INDZHYKULIAN, ARTUR — MASSACHUSETTS EYE AND EAR INFIRMARY
- Study coordinator: INDZHYKULIAN, ARTUR
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 below.