Gene-editing therapy targeting the P23H rhodopsin mutation for inherited retinitis pigmentosa
Preclinical evaluation of a homing endonuclease gene therapy for adRP in models of P23H retinopathy.
['FUNDING_R01'] · UNIVERSITY OF LOUISVILLE · NIH-11326291
A gene-editing approach aims to correct the P23H rhodopsin mutation to slow vision loss in people with autosomal dominant retinitis pigmentosa.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF LOUISVILLE (nih funded) |
| Locations | 1 site (LOUISVILLE, UNITED STATES) |
| Trial ID | NIH-11326291 on ClinicalTrials.gov |
What this research studies
This work uses a gene-editing enzyme called Rho1-2 delivered by an AAV vector under the retina to target the P23H rhodopsin mutation that causes adRP. The team will test the approach in animal models that carry the human P23H mutation, including specially bred pigs whose eyes resemble human eyes. Researchers will use clinical-style, non-invasive tests (full-field electroretinograms and spectral-domain OCT) to track retinal function and structure, and they will measure how many mutant gene copies are edited and whether any off-target changes occur elsewhere in the genome. Safety checks will focus on minimizing editing of the normal rhodopsin gene and avoiding unintended edits in other genes.
Who could benefit from this research
Good fit: People with autosomal dominant retinitis pigmentosa caused by the P23H mutation in the rhodopsin gene, especially those who still retain some photoreceptor cells.
Not a fit: People with very advanced vision loss who have lost most photoreceptors or patients whose adRP is caused by other genetic mutations are unlikely to benefit from this specific approach.
Why it matters
Potential benefit: If successful, this approach could slow or stop photoreceptor degeneration and help preserve vision in people with P23H autosomal dominant retinitis pigmentosa.
How similar studies have performed: Gene therapies have successfully treated other inherited retinal diseases in humans and gene-editing has shown benefit in preclinical models, but targeting P23H with a meganuclease is a newer and less-tested strategy.
Where this research is happening
LOUISVILLE, UNITED STATES
- UNIVERSITY OF LOUISVILLE — LOUISVILLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MCCALL, MAUREEN A — UNIVERSITY OF LOUISVILLE
- Study coordinator: MCCALL, MAUREEN A
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.