Active not recruitingOBSERVATIONAL

Rate of Progression in EYS Related Retinal Degeneration

If you have an eye condition called EYS-related retinitis pigmentosa, this study wants to understand how the condition changes over four years. This is important because knowing more about how the disease progresses in individuals with EYS gene changes will help scientists design better clinical trials for new treatments. Researchers will look at how your vision changes and examine your eyes to identify the best ways to measure the disease's impact. The goal is to speed up the development of new medicines for people living with this specific type of inherited eye disease. It focuses on gathering information, not on testing a new treatment.

At a glance

Status

Active not recruiting

Sponsor

Jaeb Center for Health Research

Enrolment target

103

Start

25 Feb 2020

Estimated completion

01 Apr 2026

Retinitis Pigmentosa Eye Diseases

What is this study about?

This study is all about understanding a specific inherited eye condition called EYS-related retinal degeneration, which is a type of retinitis pigmentosa. When someone has this condition, it means there are changes in a particular gene called EYS, which can lead to slow but ongoing vision loss. The main goal of this research, supported by the Foundation Fighting Blindness, is to closely observe how this condition develops and progresses over four years in people who have these EYS gene changes.

The researchers aren't testing a new medicine in this study. Instead, they are gathering important information about the natural course of the disease. They want to find the best ways to measure changes in vision and eye health. This information is crucial because it will help future studies and clinical trials to accurately test if new treatments are working. By understanding the disease better, scientists can develop more effective ways to slow down or even prevent vision loss caused by EYS gene mutations.

Ultimately, this study hopes to speed up the development of new treatments for EYS-related retinal degeneration. It also aims to find ways to identify specific groups of people who might benefit most from future experimental treatments. This kind of foundational research is a vital step in the long process of finding cures for inherited eye conditions.

Key takeaways

This study tracks EYS-related retinitis pigmentosa over four years.
It aims to understand disease progression, not test new treatments.
Information gathered will help design future clinical trials.
Participation involves regular eye exams and vision tests.
You need to have specific changes in your EYS gene to qualify.
The research helps pave the way for future treatments for this eye condition.

Who may be eligible?

To join this study, you need to be at least 18 years old and willing to participate for the full four years, including attending all scheduled appointments.

Crucially, you must have changes (mutations) in your EYS gene. This would typically be confirmed by a genetic test report from a specialist laboratory. You might qualify if you have one, two, or even more EYS gene changes, as long as at least one is known to cause disease. Your eyes must also be healthy enough for good quality photographs and examinations.

However, you cannot take part if you have other specific inherited eye conditions, or if you are expected to join another experimental treatment study during these four years. Also, if you have taken certain medications known to affect the retina for a long time, you might not be able to participate.

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 18 years old or older?
Do you have confirmed EYS gene changes (mutations)?
Are you able to attend study visits for four years?
Do both of your eyes allow for clear imaging and examination?
Are you currently not planning to join another experimental eye treatment study?

Answer every question to see your result.

What does participation involve?

If you decide to join this study, you will be asked to attend several follow-up appointments over a four-year period. These visits will involve various tests to monitor your vision and the health of your eyes. This could include vision tests, eye scans, and answering questionnaires about how your vision affects your daily life. You won't be given any experimental medications as this is a study to observe the natural progression of the condition, not to test a new drug. The total duration of your involvement in the study will be 48 months (four years).

Potential risks and benefits

Participating in this study will not involve any new medications, so there are no risks associated with experimental treatments. The risks are similar to routine eye exams, such as temporary bright lights during scans. The main benefit is helping researchers gain a deeper understanding of EYS-related retinal degeneration, which is vital for developing effective treatments in the future. You always have the right to withdraw from the study at any time without giving a reason, and this will not affect your medical care.

Locations (19)

University of California, San Francisco
Verified postcode
San Francisco, United States
Colorado Retina Associates
Verified postcode
Denver, United States
Vitreo-Retinal Associates
Verified postcode
Gainesville, United States
University of Miami: Neuro-ophthalmology Department
Verified postcode
Miami, United States
Emory Eye Center
Verified postcode
Atlanta, United States
Wilmer Eye Institute at Johns Hopkins
Verified postcode
Baltimore, United States
Massachusetts Eye and Ear
Verified postcode
Boston, United States
Kellogg Eye Center, University of Michigan
Verified postcode
Ann Arbor, United States
Duke University Eye Center
Verified postcode
Durham, United States
Oregon Health Science University Casey Eye Institute
Verified postcode
Portland, United States
University of Pittsburgh Medical Center
Verified postcode
Pittsburgh, United States
Retina Foundation of the Southwest
Verified postcode
Dallas, United States

Common questions

What is EYS-related retinal degeneration?

It's an inherited eye condition caused by changes in the EYS gene, leading to gradual vision loss, a type of retinitis pigmentosa.

Will I receive a new treatment in this study?

No, this study is about observing how the condition changes over time, not about testing a new medication.

How long will I need to be in the study?

The study lasts for four years, with regular visits for eye assessments.

Who is funding this research?

The Foundation Fighting Blindness is providing the funding for this important project.

What is the main goal of the study?

To understand how the condition progresses and to find better ways to measure its effects, which will help future treatment development.