Improving treatment for oculocutaneous albinism using gene therapy
Official title: Advancing treatment and molecular understanding of oculocutaneous albinism through gene therapy
Funded at University of Pittsburgh at Pittsburgh · NIH-10899862 · Data updated 2026-11-12
This study is testing a new gene therapy for people with oculocutaneous albinism type 1 (OCA1) to see if it can help improve vision by delivering a working version of a gene that helps make pigment, and we’d love for patients to join us in exploring this exciting treatment!
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $51,930 |
| NIH project number | 1F30EY036249-01 |
| Project ID | NIH-10899862 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with oculocutaneous albinism type 1 who experience significant visual impairment.
✕Less likely to help
Patients with other forms of albinism or those without significant visual impairment may not benefit from this research.
What this research studies
This research focuses on oculocutaneous albinism type 1 (OCA1), a genetic condition that leads to a lack of pigment and severe eye problems, including blindness. The study aims to develop a gene therapy using adeno-associated viral vectors to deliver a functional copy of the tyrosinase gene, which is crucial for pigment production. By restoring this gene, the research hopes to improve visual function and understand the underlying molecular mechanisms of the disease. Patients may be involved in trials that assess the effectiveness and safety of this innovative treatment approach.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking treatment option for individuals with oculocutaneous albinism, potentially restoring vision and improving quality of life.
How similar studies have gone: Previous research has shown promise in using gene therapy for genetic eye disorders, indicating potential success for this approach in treating OCA1.
Where this research is happening
-
University of Pittsburgh at Pittsburgh
Pittsburgh, United States Active
Researchers
- Principal investigator: Larimer-Picciani, Alessandra — University of Pittsburgh at Pittsburgh
- Study coordinator: Larimer-Picciani, Alessandra
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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.