An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene
This study is directly observing people with Stargardt Disease type 1 (STGD1) to learn more about how it progresses over time. By carefully watching how the disease develops in individuals, researchers hope to gain a much deeper understanding of STGD1. This knowledge is really important for a rare condition like Stargardt, as it helps scientists figure out the best ways to test new medicines and find the right patients for future treatment trials. This study aims to gather more information about what happens to the eyes, both in terms of their structure and how well they see, which will be useful for understanding if new treatments are working safely and effectively.
At a glance
What is this study about?
This is an 'observational study,' which means researchers will carefully watch and record how Stargardt Disease type 1 (STGD1) changes in people over time, rather than giving them a new treatment. Think of it like taking detailed notes and pictures of how a plant grows, rather than giving it a new fertiliser. This helps scientists understand the natural course of the disease without any new medicines involved.
Stargardt Disease is a rare condition that affects vision. Because it's rare, there's a lot we still don't fully understand about how it progresses in different people. This study is designed to fill in those gaps. By observing about 75 people across different locations, doctors hope to learn more about why the disease might get worse at different speeds for different individuals and what specific changes happen in the eye.
The information gathered from this study is incredibly valuable. It will help researchers design better, more focused studies in the future to test new treatments for Stargardt. Knowing exactly what to look for and how quickly things change will make it easier to tell if a new medicine is actually making a difference and helping people's vision.
Key takeaways
- This study helps scientists understand how Stargardt Disease changes over time.
- No new treatments are given; it's purely about observation.
- Information gathered will help develop future treatments for Stargardt.
- You need to be aged 12-65 with a confirmed STGD1 diagnosis.
- It involves regular eye checks and scans at clinic visits.
- Your participation could make a big difference for future patients.
Who may be eligible?
To be part of this study, you need to be between 12 and 65 years old and have been diagnosed with Stargardt Disease type 1. This diagnosis must be confirmed by genetic tests showing specific changes in the ABCA4 gene. Your doctor will also need to confirm that your Stargardt has changed or progressed in some way within the last two years.
Your eye doctor will check your vision and take special pictures of your eyes. They will look for certain changes in your macula (the central part of your retina) that are common in Stargardt Disease. Your eyes also need to be clear enough for these pictures, and you shouldn't have other serious eye conditions that might affect the study results, like cataracts that haven't been treated.
There are also some reasons why you might not be able to join. For example, if you've recently had eye surgery or a major surgery, or if you're taking certain supplements that the study needs you to stop. They also can't include immediate family members of the people running the study.
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 between 12 and 65 years old?
- Has your Stargardt Disease type 1 (STGD1) been confirmed by a genetic test?
- Has your eye doctor noticed some changes in your Stargardt in the last 2 years?
- Are your eyes clear enough for detailed pictures, and do you not have other serious eye conditions that might interfere?
- Are you willing to stop any supplements that might affect the study?
What does participation involve?
This is an observational study, so you won't be given any new medication or treatment. Instead, you'll have regular visits where doctors will carefully examine your eyes and vision. These visits will involve standard eye tests, like checking your eyesight, and advanced imaging scans to get detailed pictures of the back of your eye. These images help doctors track how your Stargardt Disease might be changing.
You'll be asked to provide your written consent to join the study. During the study, you'll need to attend clinic appointments where examinations and tests will be performed. You might also be asked to stop taking certain supplements if they could affect the study's findings. The total duration of the study or how many visits are needed isn't specified, but observational studies often follow people over several years. Each visit will involve thorough eye checks and scans to monitor any changes in your condition.
Potential risks and benefits
Locations (20)
- Shiley Eye InstituteVerified postcodeSan Diego, United States· Recruiting
- UCHealth Sue Anschutz-Rodgers Eye CenterVerified postcodeAurora, United States· Recruiting
- Vitreo Retinal AssociatesVerified postcodeGainesville, United States· Recruiting
- Bascom Palmer Eye InstituteVerified postcodeMiami, United States· Recruiting
- Emory UniversityVerified postcodeAtlanta, United States· Recruiting
- Wilmer Eye Institute, Johns Hopkins University MD 21287Verified postcodeBaltimore, United States· Recruiting
- Massachusetts Eye and Ear InfirmaryVerified postcodeBoston, United States· Recruiting
- Kellogg Clinical Research CenterVerified postcodeAnn Arbor, United States· Recruiting
- Columbia University Medical CenterVerified postcodeNew York, United States· Recruiting
- CUIMC/Edward S. Harkness Eye InstituteVerified postcodeNew York, United States· Recruiting
- Duke Eye CenterVerified postcodeDurham, United States· Recruiting
- Oregon Health & Science UniversityVerified postcodePortland, United States· Recruiting
Common questions
What does 'observational study' mean?
It means doctors will just watch and record how your Stargardt Disease changes over time, without giving you a new treatment or medicine.
Will I receive any new treatment in this study?
No, this study is about understanding how Stargardt Disease progresses naturally, so no new treatments will be given.
Why is this study important if it's not testing a new treatment?
The information gathered will help researchers design better studies in the future to test new possible treatments for Stargardt Disease.
Who can join this study?
People aged 12 to 65 with a confirmed diagnosis of Stargardt Disease type 1 and certain vision and eye characteristics.
Will taking part in this study affect my usual doctor's appointments?
This study typically complements your usual care; you should continue seeing your regular eye doctor.
How to find out more
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Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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