Investigational RNA therapy Sepofarsen for CEP290 mediated Leber congenital amaurosis

A young girl with LCA10 playing in a ball bath

Sepofarsen (formerly named QR-110) is an investigational RNA therapy that aims to restore vision in people with Leber congenital amaurosis 10, or LCA10, due to the most common mutation, the p.Cys998X mutation in the CEP290 gene.

How does sepofarsen work?

Sepofarsen aims to restore vision loss in people with Leber congenital amaurosis due to a specific mutation in the CEP290 gene. This p.Cys998X mutation, also known as c.2991+1655A>G, is the most common mutation causing LCA10. The p.Cys998X mutation causes a mistake in the CEP290 RNA and therefore a process called splicing is not done properly. The cell can therefore not use the RNA to produce a working CEP290 protein that is essential for vision. 

Sepofarsen works by binding to the mutated CEP290 RNA to enable correct splicing. The cells in the retina can then produce the CEP290 protein again.

Sepofarsen clinical trials

Sepofarsen is being evaluated in clinical trials to determine if it leads to better vision in patients it is tested in. In a Phase 1/2 clinical trial of sepofarsen, it was observed to be well-tolerated with manageable safety findings. For the majority of trial participants, an improved vision was also observed. Based on these encouraging results we have started a larger Phase 2/3 clinical trial to confirm those initial findings. A clinical trial in children is also ongoing.

Learn more about clinical trials and why you should consider participating.

Brighten study - Clinical trial in children

Ongoing, recruiting

Brighten logo

Brighten is an international, open-label and double-masked, randomized, controlled clinical trial of sepofarsen. In total, around 15 children (under eight years old) are included in Brighten. Participants receive intravitreal (into the eye) injections at the start of the trial followed by a dose every 6 months in the study.

More about the Brighten study

Illuminate study - Phase 2/3 clinical trial

Ongoing, not recruiting

Illuminate logo

Illuminate is an international, double-masked, randomized, sham-controlled clinical trial of sepofarsen. In total, 36 adults and children (eight years and older) are included in Illuminate. Participants receive intravitreal (into the eye) injections or undergo a sham-procedure (simulated intravitreal procedure but no study medicine administered). The treatment or sham are given at the start of the trial, again at three months, and then every six months in the first eye.

Once participants have completed 12 months in the study, and after a benefit/risk analysis, treatment with sepofarsen of the second eye may begin and those that were in the sham group may switch to treatment with sepofarsen. Study participation lasts 24 months.

More about the Illuminate study

Designations granted to sepofarsen by authorities

  • FDA orphan drug designation
  • EMA orphan drug designation
  • FDA fast track designation 
  • EMA PRIME designation
  • FDA rare pediatric disease designation