Study on the Effectiveness and Safety of Sepofarsen for Patients with Leber Congenital Amaurosis Due to a Specific Genetic Mutation

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What is this study about?

This clinical trial is focused on studying a rare eye condition called Leber Congenital Amaurosis (LCA), which is a genetic disorder that affects vision from a young age. The study is specifically looking at a mutation in the CEP290 gene, known as the c.2991+1655A>G (p.Cys998X) mutation. The treatment being tested is called Sepofarsen, also known by its code name QR-110. Sepofarsen is a type of medication called an antisense oligonucleotide, which is designed to target and correct specific genetic mutations. It is administered as a solution for injection directly into the eye, a method known as intravitreal use.

The purpose of this study is to evaluate the effectiveness, safety, and tolerability of Sepofarsen in individuals with LCA due to the specific CEP290 mutation. Participants in the study will receive either Sepofarsen or a placebo, and the study will be conducted in a double-masked manner, meaning neither the participants nor the researchers will know who is receiving the actual treatment. The study will last for 12 months, during which time participants will undergo various assessments to monitor changes in their vision and overall eye health.

Throughout the study, researchers will measure changes in visual acuity, which is the clarity or sharpness of vision, using a test called the Freiburg Acuity and Contrast Test (FrACT). They will also assess other aspects of vision, such as sensitivity to light and contrast, and gather feedback from participants about their perception of any changes in their vision. The study aims to provide valuable information about the potential benefits and risks of Sepofarsen for treating this specific form of LCA.

1 joining the study

Upon joining the study, you will be informed about the trial’s purpose, procedures, and your role. You will be asked to provide informed consent if you are an adult, or your parent or guardian will provide permission if you are a minor. You will also need to agree to follow the study instructions and attend all required visits.

2 initial assessment

An initial assessment will be conducted to confirm your eligibility. This includes verifying your diagnosis of Leber congenital amaurosis (LCA) and ensuring you meet specific vision criteria. Your eyes will be examined to ensure they are suitable for the study.

3 randomization

You will be randomly assigned to receive either the study medication, sepofarsen, or a placebo. This is a solution for injection administered directly into the eye, a process known as intravitreal use.

4 treatment phase

During the treatment phase, you will receive injections in one eye. The frequency and dosage will be determined by the study protocol. This phase will last for 12 months, during which your vision and eye health will be closely monitored.

5 regular check-ups

You will attend regular check-ups to assess your vision and overall eye health. These visits will include tests to measure visual acuity, retinal sensitivity, and contrast sensitivity. Any side effects or adverse events will be recorded.

6 final assessment

At the end of the 12-month treatment period, a final assessment will be conducted. This will evaluate any changes in your vision and determine the effectiveness of the treatment.

Who Can Join the Study?

An adult (18 years or older) who is willing and able to give informed consent to participate in the study, or a child (6 to under 18 years) with a parent or legal guardian who can give written permission for the child’s participation. Children must also agree to participate in a way that is appropriate for their age.
An adult who is willing to follow the study rules, attend study visits, and complete all study assessments, as judged by the study doctor. Or a child (6 to under 18 years) who can complete all study assessments and follow the study rules, with a parent or caregiver who can attend study visits and follow instructions, as judged by the study doctor.
A male or female with a confirmed diagnosis of Leber congenital amaurosis type 10 (LCA10) and a specific genetic mutation, confirmed by a genetic test. A previous genetic test report may be accepted with approval.
Vision measured as BCVA (Best Corrected Visual Acuity) using a test called FrACT, which is equal to or worse than a certain level (20/50 to counting fingers or hand motion). People with only light perception can join if there is proof of better vision in the past.
Similar disease condition in both eyes, with vision measurements within a certain range at the start of the study.
A detectable outer nuclear layer (ONL) in the central part of the retina, as determined during screening.
Clear eye media and enough pupil dilation to allow good quality images of the retina, as assessed by the study doctor.
Participants must not be pregnant or breastfeeding. Women who can have children and men who are fertile must use highly effective birth control methods. Women who cannot have children can join without using birth control if they meet the study’s entry criteria.

Who Cannot Join the Study?

Patients with any other eye disease besides Leber congenital amaurosis (LCA) cannot participate.
Patients who have had eye surgery in the last 6 months are not eligible.
Patients who are currently participating in another clinical trial cannot join this study.
Patients with a history of severe allergic reactions to medications are excluded.
Patients who are pregnant or breastfeeding cannot take part in the trial.
Patients with uncontrolled diabetes or high blood pressure are not eligible.
Patients with any serious illness that could interfere with the study are excluded.
Patients who cannot follow the study procedures or attend all visits are not eligible.

Where you can join this trial?

Verified and Recommended Sites

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Verified Sites

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Other Sites

Site Name	City	Country
Universitair Ziekenhuis Gent	Gent	Belgium
Hospital Sant Joan De Deu Barcelona	Esplugues De Llobregat	Spain
Universitaetsklinikum Tuebingen AöR	Tuebingen	Germany
Quinze-Vingts National Ophthalmology Hospital	Paris	France
Stichting Radboud University Medical Center	Nijmegen	The Netherlands
Justus-Liebig-Universitaet Giessen	Giessen	Germany
Kjvzpmem dla Uiziqbvkzesh Mlynvesq Aqv	Munich	Germany

Trial status

Country	Status	Recruitment Start
Belgium	Recruiting	28.04.2025
France	Recruiting	28.04.2025
Germany	Recruiting	28.04.2025
Spain	Not yet recruiting	28.04.2025
The Netherlands	Recruiting	28.04.2025

Trial locations

Investigated drugs:

SEPOFARSEN

Sepofarsen is a medication being tested for its ability to help people with a specific genetic eye condition called Leber Congenital Amaurosis (LCA). This condition affects vision, and Sepofarsen is designed to target a particular mutation in the CEP290 gene that causes this problem. The goal of using Sepofarsen in the trial is to see if it can improve vision or slow down vision loss in people with this genetic mutation. The study is also looking at how safe and tolerable the medication is for patients over a period of 12 months.

Investigated diseases:

Leber's congenital amaurosis

Leber congenital amaurosis – Leber congenital amaurosis is a rare genetic eye disorder that primarily affects the retina, the layer of tissue at the back of the eye responsible for vision. It is present from birth or early infancy and is characterized by severe vision impairment or blindness. The disease progresses as the photoreceptor cells in the retina, which detect light and color, deteriorate over time. Individuals with this condition may also experience other eye-related symptoms such as nystagmus, which is an involuntary movement of the eyes, and sensitivity to light. As the disease advances, the ability to perceive light and color diminishes further, leading to significant visual challenges.

Trial ID:

2024-518378-14-00

Protocol code:

SB-110-007

Trial Phase:

Therapeutic confirmatory (Phase III)

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Study on the Effectiveness and Safety of Sepofarsen for Patients with Leber Congenital Amaurosis Due to a Specific Genetic Mutation

What is this study about?

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