Positive two-year results for PDE6B gene therapy for retinitis pigmentosa

Key Takeaways

• EyeDNA Therapeutics reported encouraging 24-month results for 17 adult patients with retinitis pigmentosa in its Phase 1/2 PDE6B gene therapy clinical trial underway in France.
• The therapy, called HORA-PDE6B, uses a human-engineered virus to deliver healthy copies of the PDE6B gene to the light-sensing photoreceptors in the retina to augment the mutated gene copies.

EyeDNA Therapeutics, a subsidiary of Paris-based Coave Therapeutics, reported encouraging 24-month results for 17 adult patients in its Phase 1/2 PDE6B gene therapy clinical trial underway in France. The results were reported by Dr. Jean-Baptiste Ducloyer at the 2024 Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) held in Seattle. The company plans to talk with regulators to establish a path for advancing the emerging gene therapy.

According to Dr. Ducloyer, mutations in the PDE6B gene cause retinitis pigmentosa in approximately 4,500 people in the US, EU, and Japan. PDE6B encodes for an enzyme that is part of the phototransduction cascade, the biochemical process in the retina that makes vision possible. The gene therapy, known as HORA-PDE6B, is administered by an injection underneath the retina. It uses a human-engineered adeno-associated virus to deliver healthy copies of the PDE6B gene to the light-sensing photoreceptors in the retina to augment the mutated gene copies.

Vision improvements in the trial were observed for patients who received the high and low dose of the gene therapy. Five-year follow-up data showed that vision in patients receiving the low dose treatment had stable best-corrected visual acuity (BCVA), the best vision an eye can achieve with corrective lenses. In comparison, BCVA consistently declined in untreated eyes. Tests indicated that rod function also improved in patients’ treated eyes. Rods are a type of photoreceptor that provide peripheral vision and vision in dark and dim settings. There were five eye-related serious adverse events in patients that were potentially due to the investigational treatment, and two of these were resolved. 

For more information on this trial, visit https://clinicaltrials.gov/study/NCT03328130 or contact eyeDNA Therapeutics by calling 01 81 69 87 70 or emailing contact@eyednatx.com. 

Edited by Miriam Kaplan, PhD

Source: Foundation Fighting Blindness, Eye on the Cure Research News, May 10, 2024; see source article