China's first domestically developed gene therapy for inherited retinal dystrophy (IRD) has successfully completed a Phase III clinical trial, marking a milestone for Chinese ophthalmic gene therapy and positioning the country among global leaders in the field.
• First domestic IRD gene therapy to complete Phase III
• Developed by — Shanghai Jiaotong University School of Medicine (Professor Sun Xiaodong)
• RPE65 gene — targeting Leber congenital amaurosis type 2 (LCA2)
• Positive Phase III outcomes — safety and efficacy confirmed
• Paves the way for NDA submission and commercialization
Introduction
Inherited retinal dystrophies (IRDs) are a heterogeneous group of genetic disorders characterized by progressive photoreceptor degeneration, leading to visual impairment and blindness. Affecting over 2 million people worldwide, IRDs represent a significant unmet medical need with no curative treatments available.
The RPE65 gene is one of the most well-characterized targets for gene therapy in ophthalmology. Mutations in RPE65 cause Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa, conditions that are particularly challenging to treat.
In 2026, a Chinese research team led by Professor Sun Xiaodong at the Shanghai Jiaotong University School of Medicine announced the completion of a Phase III clinical trial for China's first domestically developed gene therapy for IRD — a significant milestone in Chinese ophthalmology and gene therapy.
Gene Therapy Overview
The therapy uses an AAV2 vector encoding the functional RPE65 gene, delivered via subretinal injection. This approach aims to restore the retinoid cycle and improve retinal function in patients with RPE65-related IRD.
Phase III Trial Design
| Parameter | Details |
|---|---|
| Lead Institution | Shanghai Jiaotong University School of Medicine |
| Principal Investigator | Professor Sun Xiaodong |
| Number of patients | 30 patients with RPE65-related IRD |
| Intervention | Single subretinal injection of AAV2-RPE65 |
| Primary endpoint | Change in visual acuity at 52 weeks |
| Secondary endpoints | Safety, retinal structure, visual field, mobility test |
Key Results
Efficacy
- Visual acuity — significant improvement in best-corrected visual acuity (BCVA) in 80% of treated patients
- Retinal function — improved function on electroretinography (ERG)
- Mobility — significant improvement in mobility test scores
- Durability — improvement maintained through 52 weeks
Safety
- Favorable safety profile — no serious adverse events related to the therapy
- No immune-related complications — minimal immune responses to the AAV vector
- No retinal detachment or other surgical complications
Significance and Future Directions
This Phase III completion represents several important milestones:
- First domestic IRD gene therapy — establishes a foundation for Chinese ophthalmic gene therapy development
- Regulatory pathway — creates a template for future IRD gene therapy development in China
- Patient access — brings China closer to offering gene therapy for IRD patients
- Global competitiveness — positions Chinese gene therapy on par with international standards
With Phase III successfully completed, the therapy is now poised for NDA submission to the NMPA.