Active not recruitingPHASE2, PHASE3INTERVENTIONAL

A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)

This study, called ILLUMINATE, is exploring a new treatment named sepofarsen for a rare inherited eye condition known as Leber Congenital Amaurosis 10 (LCA10). People with LCA10 often experience severe vision loss or blindness from an early age. The main goal is to find out if sepofarsen can improve vision, how safe it is to use, and how well people tolerate it. The treatment is given as an injection directly into the eye. Some participants will receive the active treatment, while others will have a 'sham' (dummy) procedure. The study will last for two years, and researchers will carefully check participants' eyes and overall health throughout this time.

At a glance

Status

Active not recruiting

Phase

PHASE2, PHASE3

Sponsor

ProQR Therapeutics

Enrolment target

Start

04 Apr 2019

Estimated completion

01 Mar 2023

Leber Congenital Amaurosis 10 Blindness Leber Congenital Amaurosis Vision Disorders Sensation Disorders Neurologic Manifestations Eye Diseases Eye Diseases, Hereditary Eye Disorders Congenital Retinal Disease

What is this study about?

This study is called ILLUMINATE and it's looking into a new treatment for a rare eye condition called Leber Congenital Amaurosis 10, often shortened to LCA10. This condition is inherited, meaning it's passed down through families, and it causes severe vision loss or blindness from a very young age. This particular study focuses on people with a specific genetic change (called CEP290 p.Cys998X mutation) that causes their LCA10.

The new treatment being tested is called sepofarsen. It's given as an injection directly into the eye that has worse vision. The main purpose of the study is to see if sepofarsen can improve vision, how safe it is for people, and whether it causes any side effects that make it hard to tolerate. The study will also look at how the body handles the medicine.

To make sure the results are fair, some people taking part will receive the active sepofarsen treatment, while others will have a 'sham' procedure. A 'sham' procedure looks and feels very similar to the real injection but doesn't contain the active medicine. This helps researchers compare the effects of the treatment fairly. The study will last for 24 months (two years), with regular check-ups to monitor participants' eyes and general health.

Key takeaways

Tests a new eye injection (sepofarsen) for LCA10.
Aims to improve vision and assess safety.
Study lasts for 2 years with regular check-ups.
Some participants get active treatment, others a 'dummy' procedure.
For individuals aged 8 and older with specific genetic LCA10.

Who may be eligible?

To be considered for this study, you would generally need to be at least 8 years old and have a confirmed diagnosis of LCA10 specifically due to a particular genetic change (called the CEP290 p.Cys998X mutation). Your treating eye doctor would need to confirm that your vision in one eye is within a certain range – not too good, but also not completely without light perception. There also needs to be a certain layer of cells visible in the back of your eye.

There are also some reasons why you might not be able to join. For example, if you have other serious eye conditions, recent eye surgery (within the last month), or an active eye infection, you might not be eligible. If you've had certain immune system treatments in the last year, or if you're taking part in another medical study for a different drug or device, you would also likely not be able to participate. Your study doctor would discuss all these details with you.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you at least 8 years old?
Do you have a confirmed diagnosis of LCA10, specifically with the CEP290 p.Cys998X genetic change?
Is your vision in your 'worse' eye within a specific range (not completely blind, but also not excellent)?
Have you avoided eye surgery or injections in the last month?
Do you have good general eye health, without active infections or severe cataracts?

Answer every question to see your result.

What does participation involve?

If you join this study, you will be randomly placed into one of three groups. Some groups will receive the active sepofarsen injection in one eye, while others will have a 'sham' procedure in one eye, which is like a dummy injection. The treatment is given directly into the eye that has poorer vision.

You will have regular follow-up visits after each treatment or sham procedure. These visits are important to check on your safety, how well you are tolerating the treatment, and any changes in your vision. These check-ups will involve eye exams and potentially other tests. The full study treatment period lasts for 24 months (two years). After at least 12 months, if you were in the sham group, you might have the opportunity to switch to the active treatment, and the 'better' eye (the one not initially treated) might also become eligible for treatment.

Potential risks and benefits

Like all medical studies, there are potential benefits and risks. You might benefit from the sepofarsen treatment if it improves your vision or slows down vision loss, but we cannot guarantee this. There's also the benefit of contributing to medical knowledge to help others with LCA10 in the future. Potential risks might include those commonly associated with eye injections, such as discomfort, infection, or temporary changes in eye pressure. The 'sham' procedure carries similar risks due to the mimicry of the injection. You have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (14)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

University of Iowa
Verified postcode
Iowa City, United States
Universitair Ziekenhuis Gent (UZ)
Verified postcode
Ghent, Belgium
INRET Clínica/ Santa Casa de Misericórdia de Belo Horizonte
Verified postcode
Belo Horizonte, Brazil
Federal University of São Paulo - Hospital São Paulo (UNIFESP-HSP)
Verified postcode
São Paulo, Brazil
The Hospital for Sick Children - SickKids
Verified postcode
Toronto, Canada
McGill University Health Centre - Centre for Innovative Medicine
Verified postcode
Montreal, Canada
Centre de maladies rares CHNO des Quinze Vingt
Verified postcode
Paris, France
Hospital Civil de Strasbourg
Verified postcode
Strasbourg, France
Justus-Liebig Universität - Department of Ophthalmology
Verified postcode
Giessen, Germany
University of Tuebingen - Inst. for Ophthalmic Research
Verified postcode
Tübingen, Germany
Eye Clinic University of Campania Luigi Vanvitelli
Verified postcode
Naples, Italy
Amsterdam University Medica Center - Locatie AMC
Verified postcode
Amsterdam, Netherlands

Common questions

What is Leber Congenital Amaurosis 10 (LCA10)?

LCA10 is a rare genetic eye condition that causes severe vision loss or blindness, typically starting from birth or early childhood.

What is sepofarsen?

Sepofarsen is the new medicine being tested in this study, given as an injection into the eye, to see if it can help improve vision in people with LCA10.

What does 'double-masked' mean?

It means that neither you nor your study doctors will know whether you are receiving the active treatment or the 'sham' (dummy) procedure, to ensure fair results.

How long will the study last if I join?

The main treatment part of the study will last for 24 months, which is two years.

What is a 'sham' procedure?

A 'sham' procedure is designed to look and feel like the actual injection but does not contain the study drug. It helps compare the real treatment fairly.