Improving treatment for oculocutaneous albinism using gene therapy
Advancing treatment and molecular understanding of oculocutaneous albinism through gene therapy
['FUNDING_FELLOWSHIP'] · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · NIH-10899862
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
| Phase | ['FUNDING_FELLOWSHIP'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PITTSBURGH AT PITTSBURGH (nih funded) |
| Locations | 1 site (PITTSBURGH, UNITED STATES) |
| Trial ID | NIH-10899862 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with oculocutaneous albinism type 1 who experience significant visual impairment.
Not a fit: Patients with other forms of albinism or those without significant visual impairment may not benefit from this research.
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 performed: 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
PITTSBURGH, UNITED STATES
- 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
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.
Conditions: Candidate Disease Gene