News update Milestone achieved in our Leber congenital amaurosis ongoing research

The news published today is a significant milestone in the clinical development focusing on LCA10.

LCA is the most common cause of blindness due to genetic disease in children. It consists of a group of diseases of which LCA10 is the most frequent and one of the most severe forms. LCA10 is caused by mutations in the CEP290 gene and leads to early loss of vision causing most people to lose their sight in the first few years of life.

There are currently no approved treatments for people and families living with LCA10, and our research has the potential to bring forward the first approved therapy to address this high unmet medical need.

Our investigational RNA therapy, sepofarsen, is being evaluated in a Phase 2/3 clinical trial called Illuminate. Our medicine is a first-in-class RNA therapy that aims to restore vision in people with Leber congenital amaurosis 10 due to the most common p.Cys998X mutation in the CEP290 gene.

The trial is focusing on participants with LCA10 aged 8 years or older who receive either the study medicine at the target dose, a lower dose, or sham treatment. The study will evaluate whether participants’ vision improves by measuring the change in visual acuity (BCVA) after 12 months of treatment. The Illuminate study is intended to support application for marketing approval of sepofarsen. Top-line results are expected in the first half of 2022.

ProQR initiated the Illuminate study based on positive findings from a Phase 1/2 study, which indicated that at month 12, participants treated had an improvement in visual acuity, as measured by BCVA.

Check out our 2020 presentation at the ARVO conference.

At ProQR we partner with over 20 retinal patient organizations. A key partner of ours is Sofia Sees Hope, an LCA specific patient group on the United States' East Coast. Commenting on the announcement today, Laura Manfre Chair and Co-Founder of Sofia Sees Hope, said:

“As the parent of a child with an LCA diagnosis, I was told there was nothing that could be done and that we needed to accept that our daughter would one day be blind. Now, in early clinical testing we have seen the potential for sepofarsen to make a significant difference for patients with LCA10 due to this mutation in the CEP290 gene. We see hope for individuals living with this disease. We look forward to learning about the results of the Illuminate trial and continuing to work with ProQR as they advance their pipeline of RNA therapies to potentially help children, adults and families who are affected by blindness caused by LCA and other rare inherited retinal diseases.”

This milestone means that we now have enough participants enrolled per the trial design to assess the safety and effectiveness of sepofarsen as a potential treatment for LCA10. ProQR is dedicated to changing lives through the creation of transformative RNA therapies for the treatment of genetic eye diseases.

Read more about the Illuminate study and sepofarsen.