QR-110 Clinical trial: Study 001

Phase 1/2 “Safety and efficacy trial”

The international Phase 1/2 trial has been completed and top-line results are available. The trial was an open-label, safety, tolerability and efficacy trial of sepofarsen (QR-110) in Leber’s congenital amaurosis 10 (LCA10) patients due to one or two copies (compound heterozygous or homozygous respectively) of the p.Cys998X in the CEP290 gene (also known as the c.2991+1655A>G mutation). Sepofarsen is an investigational drug that is designed to be administered by injections into the vitreous of the eye (intravitreal injections).

Patients participating in the trial received intravitreal injections of sepofarsen at different dose levels into one eye during one year (patients received 1-4 injections in total). Both adults (at least 18 years old) and children (6-17 years old) participated in this study.

The trial was conducted at three specialized centers with significant expertise in genetic retinal disease: the University of Iowa, Iowa City, Iowa, U.S., the Scheie Eye Institute at the University of Pennsylvania, Philadelphia, U.S., and the Ghent University Hospital, Ghent, Belgium.

The primary objective of the trial was to test whether different dose levels of sepofarsen were safe and tolerated. Secondary objectives were to test for the restoration/improvement of vision (efficacy) and retinal structure measured through specialized ophthalmic tests, and the sepofarsen pharmacokinetics. Changes in quality of life were also being evaluated.


Top-line results

Top-line results of the 12-month study were announced in a press release on October 10, 2019. The results showed that LCA10 patients treated with sepofarsen (QR-110) experienced a rapid and durable improvement in vision. Administration of a loading dose of 160 µg followed by maintenance doses of 80 µg has shown a positive benefit/risk. This dose level is being further evaluated in the ongoing Phase 2/3 Illuminate study. In the majority of patients substantive overall improvements in vision in the treated eye, as measured by a change in visual acuity (BCVA) or the ability to complete mobility courses, were observed following treatment with sepofarsen, and maintained at 12 months. These results were supported by improvements in the ability to detect flashes of light (by the full field stimulus test).

INSIGHT - open-label extension study (ongoing)

An open-label extension study, named “Insight”, is ongoing to allow eligible participants that have completed the Phase 1/2 trial to continue to receive sepofarsen.

If you have any other questions please read the FAQ or contact us through the contact form and we will be happy to answer any question you have.
Additional details about this clinical trial are available on our Insight study page.

Illuminate – pivotal Phase 2/3 clinical study (ongoing, enrollment in progress)

Based on encouraging results from the Phase 1/2 study we started “Illuminate”, a Phase 2/3 study in patients eight years of age and older, that have LCA10 due to the p.Cys998X mutation in the CEP290 gene. Additional details about this clinical trial are available on our ILLUMINATE study page.
What is a Phase 1/2 or Phase 2/3 trial?
A trial may include more than one phase.

A phase 1/2 clinical trial tests the safety and identifies the side effects of different doses of an investigational drug, as well as how patients respond to it.

A Phase 2/3 trial may be designed to evaluate the safety and efficacy of different doses of an investigational drug in more patients, over a longer time. It may also compare it an investigation drug with another treatment already in use, or with a dummy drug (placebo).

Combining phases may allow research questions to be answered more quickly or with fewer patients.