Understanding and treating a genetic form of childhood blindness
Mechanistic analysis and allellic genome editing of iPSC-derived dominant LCA model
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-10997384
This study is looking at a genetic condition called Leber congenital amaurosis, which causes blindness in kids, and aims to create mini eye models from stem cells to understand how the disease works and find ways to fix the harmful genes while keeping the good ones, with the hope of helping affected children see better.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN FRANCISCO (nih funded) |
| Locations | 1 site (SAN FRANCISCO, UNITED STATES) |
| Trial ID | NIH-10997384 on ClinicalTrials.gov |
What this research studies
This research focuses on Leber congenital amaurosis (LCA), a severe genetic condition that causes early-onset blindness in children. The team will create models using induced pluripotent stem cells (iPSCs) to study the specific genetic variants that lead to this condition. By developing retinal organoids, they aim to uncover the mechanisms behind the disease and explore ways to eliminate harmful genetic variants while preserving healthy ones. This approach could pave the way for effective treatments for affected children.
Who could benefit from this research
Good fit: Ideal candidates for this research are infants and young children diagnosed with Leber congenital amaurosis, particularly those with specific CRX gene mutations.
Not a fit: Patients with forms of blindness not associated with the CRX gene or those with other unrelated retinal conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that restore vision in children suffering from LCA.
How similar studies have performed: Previous research has shown promise in using iPSC models for studying genetic diseases, indicating that this approach could yield valuable insights and potential breakthroughs.
Where this research is happening
SAN FRANCISCO, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN FRANCISCO — SAN FRANCISCO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ULLIAN, ERIK M — UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- Study coordinator: ULLIAN, ERIK M
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.