Sepofarsen is an innovative anti-sense oligonucleotide treatment developed by ProQR. It acts as a molecular patch, covering up and in effect silencing a specific disease-causing mutation in the CEP290 gene. Laboratory studies had shown that sepofarsen could restore normal levels of functional CEP290 protein, and earlier clinical studies had produced promising results. Sepofarsen is injected into the jelly of the eyeball, a procedure known as intravitreal injection that is fairly routine for ophthalmologists.
The Illuminate trial enrolled 36 participants aged eight years or older with genetically confirmed Leber congenital amaurosis 10 due to the c.2991+1655A>G (p.Cys998X) mutation in the CEP290 gene. The study took part at 14 centres in nine countries. Participants were randomly assigned to receive sepofarsen at one of two possible dose levels, or a placebo involving a mimicked procedure.
“Given the results observed in earlier studies of sepofarsen, the Illuminate trial results are unexpected and disappointing, especially for people living with LCA10,” said Daniel A de Boer, Founder and CEO of ProQR Therapeutics. “ProQR was founded with the goal of developing RNA therapies for patients with high unmet medical need, and we will continue to advance our robust pipeline of therapies for genetic eye disease. We are deeply grateful to all of the participants, their supporters, and investigators who participated in the Illuminate study.”
ProQR will now take some time to analyse the data further, but for now, sepofarsen will proceed no further towards licensing.