Illuminate is a clinical study for Leber congenital amaurosis. This page provides patients, their families and care givers with information about the trial.
Illuminate - Phase 2/3 clinical trial for CEP290 mediated Leber congenital amaurosis
What is Illuminate?
Illuminate is the name of a clinical trial which aims to study whether the investigational RNA therapy sepofarsen is effective and safe for people with Leber congenital amaurosis 10 (LCA10) due to the most common p.Cys998X mutation, also known as c.2991+1655A>G, in the CEP290 gene. This Phase 2/3 pivotal trial is the second clinical study to investigate sepofarsen.
This trial has completed enrollment. Please sign up for our newsletter if you want to stay informed on the progress in development and other opportunities for trial participation.
Top-line results showed the Illuminate study did not meet its primary endpoint or secondary endpoints. This was unexpected, given the results observed in earlier trials, and disappointing for both people living with LCA10 and ProQR. We will be conducting further analyses to understand the results better.
Read more about the results in this blog post.
More information about the trial is also available on worldwide clinical trial database clinicaltrials.gov with identifier (NCT number): NCT03913143.
What is sepofarsen?
Sepofarsen (formerly known as QR-110) is an investigational RNA therapy that aims to restore vision in people that have LCA due to the p.Cys998X mutation in the CEP290 gene.
How is the Illuminate trial set up?
Clinical trials are used by researchers to find out whether new medicines are effective and safe. Key aspects of the Illuminate trial are the following:
- Illuminate aims to find out whether sepofarsen is effective at improving vision, safe and well-tolerated;
- The study enrolled around 36 participants, including adults and children (age 8 and up);
- Study participants are randomized into three equal groups. All participants receive sepofarsen during the trial, but the dose level and start of dosing differ per group. They are randomly assigned to one of the following study groups:
- Group 1: receive intravitreal injections (injection into the eye) with dose 1 of sepofarsen.
- Group 2: receive intravitreal injections with dose 2 of sepofarsen.
- Group 3: receive the sham procedure for the first 12 months in which an intravitreal injection is mimicked but no injection and no study medicine are given. After 12 months this group receives sepofarsen at one of the two dose levels in the subsequent 12 months.
Participants receive the study medicine or the sham procedure up to a maximum of 5 times in the chosen (study) eye, which is the eye with the worse vision. The treatment or sham procedure are given on day 1, in months 3, 9, 15 and 21 of the study.
Genetic testing is the only way to receive an accurate diagnosis and will help find out if there are treatments or clinical trials available.Internal link Genetic testing
What is CEP290 mediated Leber congenital amaurosis (LCA10)?
Leber congenital amaurosis (LCA) is an inherited retinal disease and the most common genetic cause of childhood blindness. For most of the approximately 15,000 people in the Western world that live with LCA, there is currently no approved treatment available. The disease usually appears in the first year of life and is characterized by progressive loss of vision. Other symptoms can include uncontrolled rapid eye movement, eye-poking, night blindness and sensitivity to light. Depending on the mutation, complete loss of vision can occur during early childhood.
LCA is a genetic disease that causes a mistake, or mutation, in the patient’s RNA. Because of the mutation, an essential protein in the eye cannot function, and this leads to the deterioration of the light detecting cells in the retina. The most common mutation causing LCA is the p.Cys998X mutation, also known as c.2991+1655A>G mutation in the CEP290 gene. This mutation causes Leber congenital amaurosis 10 (LCA10). Although there is little information on how many patients have LCA10, we believe approximately 2,000 people in the Western world have LCA10 due to this mutation.
Frequently asked questions
Below you will find answers to the most frequent questions about the Illuminate trial.
Intravitreal injection is one of the most commonly performed procedures for eye diseases. The inside of the eye is filled with a jelly-like fluid (vitreous). During an intravitreal injection, the eye doctor will inject medicine into the vitreous with a very small needle, after numbing the eye. The patient may feel some pressure but no pain. Learn more about intravitreal injection.
An RNA therapy is designed to correct the mistake, or mutation, in the RNA of someone with a genetic disease. By correcting the mistake, the RNA can then be used to create the protein that the cell needs, taking away the underlying cause of the disease. Learn more about how RNA therapy works.
While available information on sepofarsen is encouraging, there is still much to learn about sepofarsen and its effects. Therefore, sepofarsen is currently not available outside clinical trials.
People participate in clinical trials for different reasons. Some participate because they want to learn more about their disease. Others participate because they want to help with the development of new treatments that could help them and others in the future.
If you take part in a clinical trial, you may be one of the first people to benefit from new study medication. Clinical trials follow a specific set of standards and are strictly regulated to help keep all participants safe. All clinical trials are reviewed and approved by a committee of independent experts (Ethics Committee or Institutional Review Board).
During a clinical trial, participants are carefully monitored. In addition to eye tests, general safety tests may be performed during study visits, such as blood tests, blood pressure, heart rate and temperature.
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