Illuminate is a clinical study for Leber congenital amaurosis. This page provides patients, their families and care givers with information about the trial and trial participation.

Translated information about Illuminate is available in German, French and Dutch.

What is Illuminate?

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 (LCA) 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. If you are interested in joining this trial, please read about the eligibility criteria.

Illuminate logo
What is Sepofarsen?

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.

Ophthalmologist doing eye measurements
How is the trial set up?

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 will enroll around 30 participants, including adults and children (age 8 and up);
  • Study participants will be randomized into three equal groups. All participants will receive sepofarsen during the trial, but the dose level and start of dosing differ per group. They will be randomly assigned to one of the following study groups:
  • Group 1: will receive intravitreal injections (injection into the eye) with dose 1 of sepofarsen.
  • Group 2: will receive intravitreal injections with dose 2 of sepofarsen.
  • Group 3: will 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 will receive sepofarsen at one of the two dose levels in the subsequent 12 months.

Participants will 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 will be given on day 1, in months 3, 9, 15 and 21 of the study.

Is Illuminate for me?

Is Illuminate for me?

The information below outlines the main criteria for participation in the trial. Participants must:

  • Have an established genetic diagnosis of LCA caused by the p.Cys998X mutation (also known as c.2991+1655A>G) in the CEP290 gene;
  • Be 8 years of age or older;
  • Be able to communicate verbally;
  • Not have any planned surgery on the eye during (and just prior to the start of) the Illuminate trial;
  • Not participate in another clinical study during the Illuminate trial.
Clinical trial participation

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 Illuminate trial is conducted. You can also contact the trial center directly, their contact details are provided below.

Illuminate is currently open at the following locations. If there is no location near you this does not have to limit your ability to join the trial.

Select a country to find a list of Illuminate clinical trial locations:

  • University of Miami - Bascom Palmer Eye Institute

    Miami, Florida, United States, 33156
    Contact: Doris Caldwell | 305-482-5251
    dcaldwell@med.miami.edu   
    Principal Investigator: Byron Lam

    University of Iowa

    Iowa City, Iowa, United States, 52242
    Contact: Jean Walshire | 319-467-5183
    EYE-ProQR@uiowa.edu   
    Contact: Mitch Martin | 319-467-5182
    EYE-ProQR@uiowa.edu   
    Principal Investigator: Stephen Russell

    Columbia University Medical Center

    New York, New York, United States, 10032
    Contact: Maribel Rodriguez | 212-305-9535
    mr3208@cumc.columbia.edu
    Principal Investigator: Steven Brooks

    Casey Eye Institute - Oregon Health & Science University

    Portland, Oregon, United States, 97239-4197
    Contact: Jennifer Blackerby | 503-494-0020
    ordc@ohsu.edu    
    Principal Investigator: Paul Yang

    University of Pennsylvania - Center for Advanced Retinal & Ocular Therapeutics

    Philadelphia, Pennsylvania, United States, 19104
    Contact: Denise Pearson | 215-662-6396
    denise.pearson@pennmedicine.upenn.edu   
    Principal Investigator: Tomas Aleman

    Baylor College of Medicine

    Houston, Texas, United States, 77030
    Contact: Margaret Olfson | 713-798-4037
    molfson@bcm.edu   
    Principal Investigator: Tahira Scholle, MD

  • Universitair Ziekenhuis Gent (UZ)

    Ghent, Belgium
    Contact: Bart Leroy 
    bart.leroy@ugent.be   
    Principal Investigator: Bart Leroy

  • The Hospital for Sick Children - SickKids

    Toronto, Ontario, Canada, M5G 2L3
    Contact: Vaishnavi Batmanabane | +1 416-813-7654 ext 301511   vaishnavi.batmanabane@sickkids.ca   
    Principal Investigator: Elise Heon

    McGill University Health Centre - Centre for Innovative Medicine

    Montréal, Quebec, Canada, H4A 3J1
    Principal Investigator: Robert Koenekoop 

  • Centre de maladies rares CHNO des Quinze Vingt

    Paris, France, 75012
    Contact: Dorothée Dagostinoz | +33 1 40 02 14 57
    ddagostinoz@15-20.fr   
    Contact: Isabelle Audo | +33 1 53 46 25 42
    isabelle.audo@inserm.fr
    Principal Investigator: Isabelle Audo

    Hospital Civil de Strasbourg

    Strasbourg, France, 67091
    Contact: Hélène Dollfus | +33(0)3 88 11 67 53
    Helene.DOLLFUS@chru-strasbourg.fr   
    Principal Investigator: Hélène Dollfus

  • Justus-Liebig Universität - Department of Ophthalmology

    Gießen, Germany, 35392
    Contact: Lyubomyr Lytvynchuk | +49-641-985-43803
    lyubomyr.Lytvynchuk@augen.med.uni-giessen.de   
    Principal Investigator: Lyubomyr Lytvynchuk         

    University of Tuebingen - Inst. for Ophthalmic Research

    Tuebingen, Germany, 72076
    Contact: Andrea Rindtorff | +49 7071 29 87747
    andrea.rindtorff@stz-eyetrial.de   
    Principal Investigator: Katarina Stingl, MD

  • Amsterdam University Medica Center - Locatie AMC

    Amsterdam, Netherlands, 1105 AZ
    Contact: Monique Wezel | +31 205668618
    m.wezel@amsterdamumc.nl   
    Principal Investigator: Camiel Boon         

    Radboud Universitair Medisch Centrum

    Nijmegen, Netherlands, 6525 GA
    Contact: Chantal Buster-Franc | +31 243613212
    trialcentrum.ohk@radboudumc.nl   
    Contact: Tom Heesterbeek | +31 243613212
    trialcentrum.ohk@radboudumc.nl   
    Principal Investigator: Carel Hoyng         

    Het Oogziekenhuis Rotterdam

    Rotterdam, Netherlands, 3011 BH
    Contact: Marja Scheeres | +31 104023437
    M.Scheeres@oogziekenhuis.nl   
    Principal Investigator: L. Ingeborgh van den Born

  • Moorfields Eye Hospital - NHS Foundation Trust

    London, United Kingdom, EC1V 2PD
    Contact: Shamima Akther | +44 0207 253 3411 ext 4246
    shamima.akther2@nhs.net
    Principal Investigator: Michel Michaelides  

The above information is also available on worldwide clinical trial database clinicaltrials.gov with identifier (NCT number): NCT03913143.

What is Leber congenital amaurosis?

What is CEP290 mediated Leber congenital amaurosis?

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 (LCA). Although there is little information on how many patients have LCA, we believe approximately 2,000 people in the Western world have LCA due to this mutation.

FAQ

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.

  • 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. 

    Learn more about clinical trials.

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