AAV gene editing for inherited dominant hearing loss DFNA41 and DFNA2
AAV-mediated editing to treat human autosomal dominant hearing loss DFNA41 and DFNA2
This project uses an AAV-delivered CRISPR gene editor to correct or silence the specific gene changes that cause DFNA41 and DFNA2 hearing loss in people with those genetic diagnoses.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts Eye and Ear Infirmary NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11195632 on NIH RePORTER |
What this research studies
You would be told that researchers are developing a gene-editing therapy delivered by AAV to target the exact mutations in P2RX2 (DFNA41) and KCNQ4 (DFNA2). They will test the SaCas9-KKH/gRNA editing system in laboratory and animal studies and complete the safety, dosing, and manufacturing work needed to seek FDA permission for human trials. The work is led by a consortium with experience moving ear gene therapies from animal models into children and includes IND-enabling studies to document safety and efficacy. If the program moves into clinical testing, eligible patients would be genetically screened and closely monitored for hearing and safety outcomes.
Who could benefit from this research
Good fit: Ideal candidates would be people of any eligible age who have a confirmed pathogenic mutation in P2RX2 (DFNA41) or KCNQ4 (DFNA2) and meet clinical and safety screening for a gene therapy trial.
Not a fit: People with non-genetic hearing loss, hearing loss caused by other genes, or advanced inner-ear degeneration unlikely to respond to gene correction may not benefit from this approach.
Why it matters
Potential benefit: If successful, this approach could repair or silence the faulty genes and preserve or improve hearing for people with DFNA41 or DFNA2.
How similar studies have performed: Related AAV gene therapies have restored hearing in animal models and an AAV dual-vector gene therapy for OTOF-related deafness showed promising results in children, but AAV-based gene editing for dominant hearing loss is a newer and less-tested approach.
Where this research is happening
Boston, United States
- Massachusetts Eye and Ear Infirmary — Boston, United States (Active)
Researchers
- Principal investigator: Chen, Zheng-Yi — Massachusetts Eye and Ear Infirmary
- Study coordinator: Chen, Zheng-Yi
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.