Children's Hospital Los Angeles (CHLA) has reached a significant milestone, celebrating its 100th retinal gene therapy procedure. Since 2018, the Vision Center at CHLA, led by Aaron Nagiel, MD, PhD, has been utilizing gene therapy to treat patients with Leber congenital amaurosis (LCA). CHLA was the first center on the West Coast to administer Luxturna, a gene therapy approved by the FDA in 2017 for this condition.
Impact of Gene Therapy on Vision Restoration
Dr. Nagiel shared insights into the transformative impact of restoring vision through gene therapy. He noted that some patients experience significant improvements within the first week, observing things they had never seen before. Examples include patients being able to distinguish fish in a fish tank or noticing birds and clouds for the first time. These improvements highlight the profound effect of gene therapy on patients' quality of life.
Patient Selection and Screening Process
CHLA employs a rigorous screening process to determine patient eligibility for Luxturna treatment. According to Dr. Nagiel, patients must be older than 12 months and possess mutations in both copies of the RPE65 gene. The hospital's Center for Personalized Medicine plays a crucial role in this screening process, leveraging in-house genomic and molecular pathology support. This is particularly important because over 300 genes can cause retinal degenerations, necessitating precise identification of the specific form of LCA before treatment.
The Future of Gene Therapy for Retinal Diseases
Looking ahead, Dr. Nagiel commented on the future of gene therapy, emphasizing the importance of early diagnosis and treatment. CHLA continues to recruit participants for clinical trials aimed at advancing gene therapy treatments. The goal is to identify and treat patients with retinal diseases in childhood, ensuring life-changing vision improvements for their entire lives. With advancements in diagnostics and treatment, the need to treat adults with these conditions may eventually be eliminated.
