Brighten is a clinical study for children under 8 years old with Leber congenital amaurosis. This page provides families and care givers with information about the trial and trial participation.
Brighten - Clinical trial for children with CEP290 mediated Leber congenital amaurosis
What is Brighten?
Brighten is the name of a clinical trial which aims to study whether the investigational RNA therapy sepofarsen is safe and well-tolerated in children younger than 8 years old 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 trial is the fourth clinical study to investigate sepofarsen. If you are interested in joining this trial, please read about the eligibility criteria.
What is sepofarsen?
Sepofarsen (formerly known as QR-110) is an investigational RNA therapy that aims to restore vision in people that have LCA10 due to the p.Cys998X mutation in the CEP290 gene.
How is the Brighten trial set up?
Clinical trials are used by researchers to find out whether new medicines are safe and well-tolerated. Key aspects of the Brighten trial are the following:
- Brighten aims to find out whether sepofarsen is safe and well-tolerated in children younger than 8 years old;
- The study will enroll around 15 participants;
- All participants will receive sepofarsen during the trial, but the dose level differs per group;
- Group 1 will receive dose 1 of sepofarsen (1-3 participants)
- Group 2 will receive dose 2 of sepofarsen (1-3 participants)
- Group 3 will receive dose 3 of sepofarsen (1-3 participants)
- Group 4 (10 participants) will be randomly assigned to 2 equally sized groups. All participants will receive sepofarsen, but the dose level will be either dose 4 or dose 5.
Study participants will receive the study medicine up to a maximum of 4 times in the chosen (study) eye, which is usually the eye with the worst vision. The treatment will be given on day 1, followed by a dose every 6 months in the study.
Is Brighten for my child?
The information below outlines the main criteria for participation in the trial. Participants must:
- Have an established genetic diagnosis of LCA10 caused by the p.Cys998X mutation (also known as c.2991+1655A>G) in the CEP290 gene;
- Be under 8 years old at the time of enrollment into the study;
- Be able to at least distinguish light from dark (light perception or better);
- Not participate in another clinical study during (or just prior to the start of) the Brighten trial.
Genetic testing is the only way to receive an accurate diagnosis and will help find out if there are treatments or clinical trials available.Genetic testing
How to participate in the clinical trial?
We recommend that you discuss your situation and suitability for the trial with your doctor. They will be able to refer you to a medical center where the Brighten trial is conducted. You can also contact the trial center directly. Brighten is currently open at the following locations:
Universitair Ziekenhuis Gent (UZ)
Ghent, Belgium, 9000
Contact: Bart Leroy
Principal Investigator: Bart Leroy
INRET Clínica/ Santa Casa de Misericórdia de Belo Horizonte
Belo Horizonte, Brazil
Contact: Fernanda Porto| 5531988237577
Principal Investigator: Fernanda Porto
Federal University of São Paulo – Hospital São Paulo
São Paul, Brazil
Contact: Juliana Sallum| 5511-55764848 ext 2265
Principal Investigator: Juliana Sallum
University of Alberta
Edmonton, AB, Canada
Contact: Mark Seamone | 780 492 8869
Principal Investigator: Mark Seamone
Justus-Liebig Universität - Department of Ophthalmology
Gießen, Germany, 35392
Contact: Lyubomyr Lytvynchuk | +49-641-985-43803
Principal Investigator: Lyubomyr Lytvynchuk
Eye Clinic University of Campania Luigi Vanvitelli
Contact: Francesca Simonelli| +39 338 7630132
Principal Investigator: Francesca Simonelli
Amsterdam University Medica Center - Locatie AMC
Amsterdam, Netherlands, 1105 AZ
Contact: Monique Wezel | +31 20 566 8618
Principal Investigator: Camiel Boon
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 Brighten 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.
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.
Yes, travel and accommodation costs will be covered.
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.
The above information is also available on worldwide clinical trial database clinicaltrials.gov with identifier (NCT number): NCT04855045.
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