Forms of Leber Congenital Amaurosis (LCA) are caused by a mutation in a number of genes that are important for retinal function. LCA10 is a retinal degenerative disorder caused by a mutation in the gene CEP290, and it’s considered the most common cause of inherited childhood blindness, with an incidence of two to three per 100,000 live births worldwide.
The girl participated in the 2/3 Illuminate clinical trial for Sepofarsen, ProQR Therapeutic’s RNA therapy. Sepofarsen is an RNA therapy and works by interfering in the production of the dysfunctional proteins that would be created due to the mutation on the CEP290 gene. These proteins are important for the eye cells’ health and function. Sepofarsen is designed to enable the production of functional CEP290 protein.
Sepofarsen is intended to be administered through intravitreal injections in the eye and very soon after the first injection with the medicine, the girl’s vision started improving. She went from using Braille to reading the alphabet, as well as watching television or differentiating the red from green traffic lights. Her everyday life has been positively impacted as she can now participate in the classroom, study and she sign her name to paper.
“Her parents were not expecting the therapy to work, and they understood their daughter might only get the placebo,” said Fernanda Belga Ottoni Porto, MD, PhD, the principal investigator for the trial at INRET Clínica/Santa Casa de Misericórdia de Belo Horizonte in Brazil. “But they wanted to participate in the trial to offer her eye for science as her eyes appeared to be otherwise useless. And the girl agreed with her parents.”
Unfortunately, despite the above positive results, the Illuminate trials didn’t meet their endpoints after 12 months, and according to the ProQR announcement additional analyses need to be conducted and presented at a future medical congress. You can learn more here about clinical trials and get information about LCA trials currently running here.