What is Leber’s Congenital Amaurosis?
In LCA, a process called phototransduction is disrupted in the light-detecting cells (rods and cones) in the retina, due to a mutation in a specific gene. Because these cells cannot perform their function properly, patients experience nystagmus (involuntary eye movement) and severely impaired visual function.
What causes Leber’s Congenital Amaurosis?
The CEP290 gene is responsible for expression of the CEP290 protein (centrosome- and cilium-associated gene centrosomal protein 290). LCA10 accounts for the most severe form of LCA. Although diagnosis rates vary, we believe approximately 2,000 patients in the Western world have LCA10 due to this mutation.
Amongst other functions, the CEP290 protein helps the development and maintenance of cilia in the photoreceptor cells (rods and cones) in the retina. A non-functioning CEP290 protein causes retinal degeneration in LCA 10 patients.
About sepofarsen for LCA10
ProQR is developing a novel drug, sepofarsen (QR-110), for patients with LCA10 due to the p.Cys998X mutation, also known as c.2991+1655A>G mutation, in the CEP290 gene.
QR-110 is designed to work in a unique way. It aims to repair the genetic defect in the RNA, enabling it to function as a normal “wild-type” mRNA. The RNA is the “blueprint” for protein synthesis and when repaired, it will produce a healthy CEP290 protein that is expected to have a normal function. The goal of sepofarsen is to repair the underlying defect in the RNA and potentially stop the progression of the disease or reverse some effects of LCA10 caused by the p.Cys998X mutation.
Sepofarsen clinical trials
PQ-110-001 - Phase 1/2 clinical study (ongoing, enrollment completed, top-line results available)A Phase 1/2 clinical trial has been completed in children and adults with LCA10 due to the p.Cys998X mutation in the CEP290 gene. Top-line results published in October 2019 suggest that the majority of patients treated with sepofarsen (QR-110) experienced a substantive overall improvement in vision at 12 months of treatment. The trial was conducted at three academic hospitals in the USA and Europe. Read more about the trial and the interim results on the clinical trial page.
Insight - open-label extension study (ongoing)An open-label extension study, named “Insight”, is ongoing where eligible participants that complete the Phase 1/2 trial will be given the opportunity to continue treatment with sepofarsen.
Illuminate – pivotal Phase 2/3 clinical study (ongoing, enrollment in progress)We are currently conducting “Illuminate”, a Phase 2/3 study in patients over eight years of age that have LCA10 due to the p.Cys998X mutation in the CEP290 gene. This trial began in April 2019.
Information for LCA10 patients
Who is ProQR?
What is sepofarsen?
Can I participate in a sepofarsen clinical trial?
If you are interested in taking part in a sepofarsen clinical study, we suggest that you talk with your or your child’s treating physician to discuss your options. Additionally, you can find information about enrollment on www.clinicaltrials.gov.
Please visit this website if you would like to stay informed on our progress and future study participation opportunities.
I have a LCA CEP290 mutation other than p.Cys998X, is sepofarsen developed for me?
How often will sepofarsen be given?
Will sepofarsen be available outside a clinical trial?
While results of the first trial are encouraging, there is still much to learn about sepofarsen and its effects and therefore sepofarsen is currently not available outside a clinical study. ProQR will continue to assess this position as the program moves forward.
Please visit this website for the latest news and future study participation opportunities.