ProQR Therapeutics N.V., a company dedicated to changing lives through the creation of transformative RNA medicines for severe genetic rare diseases, announced that it received Rare Pediatric Disease (RPD) designation from the U.S. Food and Drug Administration (FDA) for sepofarsen for the treatment of Leber’s congenital amaurosis 10 (LCA10), the most common cause of blindness due to genetic disease in children.
Sepofarsen (QR-110) is a first-in-class investigational RNA-based oligonucleotide designed to address the underlying cause of LCA10 due to the p.Cys998X mutation (also known as the c.2991+1655A>G mutation) in the CEP290 gene.
The RPD designation provides priority review by the FDA to encourage treatments for rare pediatric diseases. Under the RPD program, a sponsor who receives an approval for a drug or biologic for a "rare pediatric disease" may qualify for a voucher that can be redeemed to receive a priority review by the FDA of a subsequent marketing application for a different product.
“We are pleased to have received rare pediatric designation from the U.S. FDA for our sepofarsen program for patients with LCA10, which is the most common cause of blindness due to genetic disease in children,” said Daniel de Boer, chief executive officer of ProQR. “This designation for sepofarsen underscores the significant unmet medical need for patients with this genetic disease causing blindness. Our goal is to advance a pipeline of programs that can treat inherited retinal diseases like LCA10 to bring medicines to patients as soon as possible.”
Sepofarsen (QR-110) is a first-in-class investigational RNA-based oligonucleotide designed to address the underlying cause of Leber’s congenital amaurosis 10 due to the p.Cys998X mutation (also known as the c.2991+1655A>G mutation) in the CEP290 gene. The p.Cys998X mutation is a substitution of one nucleotide in the pre-mRNA that leads to aberrant splicing of the mRNA and non-functional CEP290 protein.
Sepofarsen is designed to bind to the mutated location in the pre-mRNA and enable normal splicing, resulting in restoration of normal (wild type) CEP290 mRNA and subsequent production of functional CEP290 protein.
Sepofarsen is intended to be administered through intravitreal injections in the eye and has been granted orphan drug designation in the United States and the European Union and received fast-track designation from the FDA as well as access to the PRIME scheme by the EMA.