CRISPR gene editing for USH2A-related vision and hearing loss
CRISPR/Cas9-based gene editing approaches for the treatment of USH2A-associated diseases
['FUNDING_R01'] · MASSACHUSETTS EYE AND EAR INFIRMARY · NIH-11083018
Researchers are testing CRISPR/Cas9 gene editing to correct or bypass harmful USH2A mutations in people with USH2A-related retinitis pigmentosa or Usher Syndrome type II.
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-11083018 on ClinicalTrials.gov |
What this research studies
This project aims to develop gene-editing approaches that can overcome the size limits of AAV delivery for the very large USH2A gene. Scientists will work on CRISPR/Cas9 methods and compare them with exon-skipping antisense oligonucleotides, using laboratory models and human-derived samples to refine the techniques. They will test whether these approaches can restore proper USH2A RNA or protein and protect the cells that support vision and hearing. The long-term goal is to produce therapies that could move into clinical trials for people with USH2A mutations.
Who could benefit from this research
Good fit: People with genetically confirmed pathogenic or likely pathogenic USH2A variants causing retinitis pigmentosa or Usher Syndrome type II would be the ideal candidates for related clinical testing or sample donation.
Not a fit: Patients whose mutations are not targetable by the specific editing or exon-skipping approaches, or those with very advanced retinal degeneration where photoreceptors are lost, may not receive benefit.
Why it matters
Potential benefit: If successful, these approaches could slow or prevent progressive vision loss and possibly hearing loss in people with USH2A mutations.
How similar studies have performed: Antisense oligonucleotide exon-skipping therapies for a common USH2A exon have entered clinical testing with some early encouraging signs, while CRISPR-based treatments for USH2A remain mainly preclinical.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS EYE AND EAR INFIRMARY — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LIU, QIN — MASSACHUSETTS EYE AND EAR INFIRMARY
- Study coordinator: LIU, QIN
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.