Gene editing therapy shows potential for CEP290-associated inherited retinal degeneration
Click Here to Manage Email Alerts
Key takeaways:
- EDIT-101 was evaluated in patients with CEP290-associated inherited retinal degeneration due to an IVS26 variant.
- The study results support the safety of the gene editing therapy.
A gene editing therapy showed safety and improvement in cone photoreceptor function in patients with CEP290-associated inherited retinal degeneration due to an IVS26 variant, according to a phase 1/2 study.
“This trial shows CRISPR gene editing has exciting potential to treat inherited retinal degeneration,” study author Mark E. Pennesi, MD, PhD, told Healio. “There is nothing more rewarding to a physician than hearing a patient describe how their vision has improved after a treatment.”
Image: Adobe Stock
The therapy, EDIT-101 (Editas Medicine), is a (CRISPR)-CRISPR-associated protein 9 (Cas9) gene-editing complex that is administered via a single subretinal injection. The patients, all non-Hispanic and white, included 12 adults aged 17 to 63 years and two children aged 9 to 14 years. The selected patients were “representative of the population with CEP290-associated inherited retinal degeneration, which is largely of European descent and has a wide age spectrum,” the authors wrote.
Adult participants were divided into groups that received a low, intermediate or high dose of EDIT-101. The two pediatric participants received the intermediate dose. Monitoring was scheduled every 3 months for 1 year and then less frequently for 2 years.
The primary outcome of the study was safety. Secondary efficacy outcomes were changes from baseline in best corrected visual acuity, retinal sensitivity to red, blue and white light, vision-related mobility and quality of life score.
“The results of our study support the safety of EDIT-101,” the authors wrote.
The majority of treatment-related ocular adverse events were typical for this type of therapy and administration method. Eleven patients had improvement in at least one of the four key efficacy outcomes, and six patients had improvement in two or more outcomes. Four patients had meaningful BCVA improvement, and six patients had meaningful improvement in cone photoreceptor function. Six patients reported a quality of life improvement of at least four points. Vision gains were reported at 3 months and remained stable at subsequent visits, including up to 2 years in one patient.
“These data provide proof of concept of the therapeutic potential of in vivo retinal gene editing and support further research into CRISPR-Cas9-mediated therapies for certain other inherited retinal degenerations and inherited diseases,” the authors wrote.
Collapse
Read more about
Click Here to Manage Email Alerts