2024 Summer

July 3, 2024

Summer has officially begun here in Philadelphia, with Independence Day just around the corner. Things have been heating up at the Center for Hereditary Retinal Degenerations as we get busy for the Summer and the Fall. Below are some highlights:

Gene Editing for LCA

Recently, Dr. Aleman and colleagues published the results of the BRILLIANCE trial in the prestigious New England Journal of Medicine. This therapy represented the world’s first use of Nobel prize winning technology CRISPR/Cas9 gene editing to correct inherited blindness. Results showed that the therapy was not only safe, but half of the patients experienced improvements in vision.

Attending International Conference

The annual conference bringing together 10,000+ physicians and scientists interested in vision took place this year in May in Seattle, Washington. Members of the CHRD had a strong showing at this Association for Research in Vision and Ophthalmology (ARVO) conference and presented findings on a variety of topics in inherited retinal degenerations including: gene therapy for LCA5-LCA, gene-agnostic therapy for RP, natural history of late-onset retinal degeneration (L-ORD), treatment potential of RPGRIP1-IRD, gene therapy for BEST1-IRD, and research on humans and dogs with ABCA4-associated vision loss.

X-Linked Retinoschisis Gene Therapy Clinical Trial to Begin Enrollment

This summer, we plan on enrolling for a phase 1/2 gene therapy clinical trial to treat X-Linked Retinoschisis (XLRS). Dr. Aleman is the principal investigator for the Children's Hospital of Philadelphia (CHOP)/UPenn site, the trial is sponsored by Atsena Therapeutics.