P107: "Regulatory Frameworks and Clinical Trial Advances in Gene Therapy for Retinal Degenerations"
Poster Presenter
Patricia Eugenie Jumelle
Student
University of Southern California United States
Objectives
Retinal degenerations represent a significant cause of vision loss worldwide. Gene therapy is a promising approach for treating blinding retinal degenerations. This review highlights the current state of ocular gene therapy, regulatory frameworks, ongoing clinical trials, and recent advancements.
Method
A comprehensive review of the literature was conducted to March 2025 using ClinicalTrials.Gov, PubMed, and regulatory authority websites for guidance documents. A combination of search terms included: ocular gene therapy, retinal degeneration, regulations, and clinical trials.
Results
The regulatory framework for gene therapy in retinal disorders has evolved significantly, with the FDA establishing specific guidelines for ocular gene therapy products, which offers recommendations on product development, preclinical testing, and clinical trial design for gene therapies targeting retinal diseases in both adult and pediatric patients. Clinical trials have demonstrated promising results for several forms of inherited retinal dystrophies, including RPE65-mediated retinal dystrophy and choroideremia. Challenges remain in vector design, delivery methods, and long-term safety monitoring. Emerging genome editing technologies show potential but face additional regulatory scrutiny. Researchers are exploring various approaches, including gene replacement, gene suppression, antisense oligonucleotides, and genome editing. The timing of intervention is crucial, as earlier treatment may lead to better outcomes before irreversible degeneration occurs. Meaningful results depend upon careful endpoint selection and validation. As the field advances, gene therapy holds promise for treating a wide range of previously incurable retinal diseases, potentially restoring visual function and improving quality of life for affected individuals.
Conclusion
Gene therapy for retinal degeneration has progressed from concept to clinical reality, with one approved therapy and several in late-stage trials. Regulatory frameworks continue to adapt to the unique challenges of gene therapy. While significant advances have been made, further research is needed to address remaining hurdles in efficacy, safety, and accessibility of these innovative treatments. Findings from ocular gene therapy trials contribute to the understanding of immune responses to gene therapies in general and successful ocular gene therapy techniques could be adapted for treating genetic disorders affecting other organs and systemic diseases.
