Fall 2025
September 9, 2025
This fall, we look forward with renewed hope, inspired by the courage of our patients and the promise of research transforming hereditary retinal diseases. Since the last newsletter, we have been busy continuing ongoing research, as well as starting new clinical trials, new research directions and new collaborations. We currently have eight active clinical trials with four of them enrolling new patients. Below are just a few of the highlights:
A Phase 3 Clinical Trial of Intravitreal Antisense Oligonucleotide Therapy for CEP290-LCA10
As of June 2025, our Center joined several other international sites to perform a masked study to evaluate the efficacy and safety of Sepofarsen to treat CEP290-LCA10. We have deep expertise in understanding this retinal disease, and we have experience with Sepofarsen in early phase trials. We are looking forward to working with the sponsor Laboratoires Thea to perform this promising trial. Enrollment is continuing.
A Phase 3 Clinical Trial of NAC for Retinitis Pigmentosa
We have been part of an NIH supported clinical trial investigating N-acetyl cysteine (NAC) as a potential oral treatment for retinitis pigmentosa. Enrollment into this large trial started about 2 years ago. Recently recruitment was completed upon reaching the target number of 485 participants across 31 sites in 7 countries. Now we will perform careful assessments over a few years to determine whether NAC will slow down disease progression.
LCA5-LCA Gene Therapy Clinical Trial – Expansion to Pediatrics
We expanded enrollment in our phase 1/2 gene therapy trial for LCA5 to pediatric patients (14 years or older), and we are excited to share the results following 1 year post treatment in the first cohort of adult patients that we recently published. This trial is funded by the FDA’s Office of Orphan Product Development (OOPD) and Opus Genetics.
Updated Website
Visit our updated website to keep up with the happenings at the Center for Hereditary Retinal Degenerations and find more information about all our ongoing clinical trials and research projects.
Happy Birthday to CHRD!
In July, our Center at Scheie Eye Institute celebrated its 30th birthday! During this time, we have driven understanding and treatment of hereditary retinal diseases forward with 400 publications, and we will look forward to continuing to do so for many more years to come.
Support our Research!
About two years ago Samuel G. Jacobson Memorial Research Fund was established in memory of the founder of our Center. Since then, generous donations totaling more than $160,000 have been received. We have been good stewards for these contributions by using them to ask important research questions that are not otherwise funded by external sources. We look forward to reporting on one such research direction which is currently under peer review.
Please remember, if a disease of interest is not listed in the newsletter, it does not mean that we are not working on it! For updates or if you have a specific question for our investigators, you are welcome to reach out to us at chrd@pennmedicine.upenn.edu or 215-662-9981. We are always happy to hear from you.
Warm regards,
Tomas S. Aleman, MD and Artur V. Cideciyan, PhD
Co-Directors, Center for Hereditary Retinal Degenerations
University of Pennsylvania Scheie Eye Institute,
Philadelphia, PA
215-662-9981