2023 Winter

As 2023 ended and 2024 is in full swing, we are excited to share with you some of the recent happenings from the Center for Hereditary Retinal Degenerations (CHRD) at the Scheie Eye Institute in Philadelphia! Just in time for Rare Disease Day on Feb 29, 2024.

NAC Attack Clinical Trial for RP

Our Center is part of a clinical trial investigating N-acetyl cysteine (NAC) as a potential oral treatment for retinitis pigmentosa (NCT05537220). Screening and enrollment of the first patients began in December and are ongoing.

Webinar to Feature Dr. Cideciyan on Tuesday, February 13

Mark your calendars! The non-profit patient advocacy organization, Hope in Focus, is hosting a free webinar on February 13, 2024 at 1pm EST in which Dr. Cideciyan will present a short overview of the retinal disease caused by NPHP5/IQCB1 mutations and its treatment by gene therapy. Drs. Aleman and Cideciyan will also take questions.

Making Progress towards Treatments through Research

• In patients with retinal disease due to DHDDS mutations, changes in a second gene, ALG6, appears to modify severity in unexpected ways. Read here.
• Our careful evaluations of patients with Late-Onset Retinal Degeneration (L-ORD) due to C1QTNF5 mutations in the UK and US showed details of retinal changes occurring with age. These results lead to a treatment strategy with gene editing that is currently being developed in the laboratory. Read here.
• 20 years ago, our Center developed the FST test which has since become a ubiquitous outcome measure used in clinical trials. We recently contributed to a guideline for the FST with a view for future standardization. Read here.

A Visit from the Director

The Director of the National Eye Institute, Michael F. Chiang, M.D, toured our Center in mid-November. We were honored to share with him our long history of groundbreaking research and treatment of IRDs as well as our vision of the future for the field.