2024 Winter
December 3, 2024
As winter settles in across the northern hemisphere, we extend our warmest greetings to our community of patients, families, and friends. We are excited to share with you the latest strides we've made at the Center for Hereditary Retinal Degenerations.
LCA1 Gene Therapy Clinical Trial Results
Impactful results from the first-in-human clinical trial to use a gene therapy (ATSN-101) to treat those affected with Leber Congenital Amaurosis (LCA) caused by mutations in the GUCY2D gene were published in The Lancet. Results show that the therapy is safe, and some patients experience up to a 10,000-fold increase in their ability to sense light. There was extensive coverage of the news in the press.
Blue Cone Monochromacy (BCM): Clinical Trial Outcomes Development
We spent the last decade to better understand BCM and shared our findings by publishing a series of 10 papers. Recently, our Center developed, evaluated and published outcome measures that will likely be used in a future clinical trial to assess safety and efficacy of novel gene-based therapies for BCM and related diseases.
X-linked Retinoschisis Gene Therapy Clinical Trial Continues Enrollment
Enrollment continues for a phase 1/2 gene therapy clinical trial to treat X-linked Retinoschisis (XLRS) caused by RS1 mutations. Dr. Aleman is the principal investigator for the Children’s Hospital of Philadelphia (CHOP)/UPenn site, sponsored by Atsena Therapeutics.
X-linked Retinitis Pigmentosa Gene Therapy Clinical Trial to Start Enrolling Soon
We are getting ready to soon start enrolling for a phase 2/3 gene therapy trial to treat X-linked Retinitis Pigmentosa (XLRP) caused by RPGR mutations. This trial is sponsored by Beacon Therapeutics.
LCA5-LCA Pediatric Gene Therapy Clinical Trial to Start Enrolling Soon
Enrollment will soon expand to younger patients in our phase 1/2 gene therapy trial for LCA5, a severe form of LCA. Expansion is based on our recent success treating this disease in adults. Trial is funded by the FDA’s Office of Orphan Product Development (OOPD) with support from Opus Therapeutics.
Updated Website
Visit our updated website to keep up with the happenings at the Center for Hereditary Retinal Degenerations.
Support our Research!
We recently celebrated what would have been 80th birthday of the founder of our Center. We miss him dearly and on this Giving Tuesday consider donating to the Samuel G. Jacobson Memorial Research Fund in order to accelerate our groundbreaking research towards treatments and cures.
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