A Study to Learn How Stargardt-type Eye Conditions Progress in Children and Adults (NCT07425574) | Clinical Trial Compass
RecruitingNot Applicable
A Study to Learn How Stargardt-type Eye Conditions Progress in Children and Adults
United States90 participantsStarted 2026-02-20
Plain-language summary
Macular dystrophies are a group of inherited eye conditions that affect the macula. The macula is in the center of the retina, the light sensitive part at the back of the eye. In people with macular dystrophies, some of the cells in the macula gradually stop working and may die over time. This leads to vision loss in the center of the eye. Side vision (peripheral vision) is mostly unaffected. Stargardt disease (STGD) is a type of macular dystrophy which is caused by 1 faulty gene (ABCA4). Vision loss most typically happens in childhood, but many people do not develop it until they are adults. As well as STGD, there are other macular dystrophies that look very similar to STGD but that are caused by many other different genes. Together, STGD and STGD-like conditions can be called STGD-type macular dystrophies. This is because they look the same clinically and have similar symptoms. Since different genes can cause these conditions, genetic testing is the only way to be sure which specific condition a person has.
In this study, researchers want to learn if the disease progresses in a similar way in people with STGD and STGD-like macular dystrophies. People taking part in the study will continue to manage their condition, as agreed with their own doctor. People will visit their clinic every 6 months to have various standard eye tests and imaging. The information collected will include questions about people's wellbeing, general health, medication and supplements taken, and daily activities.
Children over 6 years old and adults with STGD-type macular dystrophies may take part in this study. They will be in the study for up to 24 months (2 years). The study sponsor (Astellas) will not decide how people's condition is managed. However, the sponsor will provide instructions on when people visit their clinic and what is recorded during the study. If available, medical records, clinical and imaging data from previous visits going back 24 months will also be reviewed.
Who can participate
Age range
6 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* Participant has a documented clinical diagnosis of macular dystrophy expressing a STGD-type clinical presentation and molecular confirmation, defined as either:
* ABCA4-associated disease: presence of biallelic (pathogenic or likely pathogenic) ABCA4 variants, or one definite disease-causing ABCA4 variant together with a typical phenotype consistent with STGD.
* STGD-like macular dystrophy: presence of one or more pathogenic variants in a gene known to cause macular dystrophy, as appropriate for its expected inheritance mode. Note: All genetic testing should be performed by a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory or equivalent whenever possible. Acceptable documentation includes a copy of the genetic test report, laboratory certification statement, or clinical notes explicitly referencing CLIA certification. Predicted pathogenic variant of uncertain significance (VUS) that cannot be confirmed by standard laboratory criteria as certainly disease-causing (novel mutations) will be considered on a case by-case basis.
* Participant has sufficiently clear ocular media and adequate pupillary dilation to allow for all imaging procedures.
* Participant has intraocular pressure (IOP) both at screening and baseline of ≤ 21 mmHg measured by applanation tonometry. Note: Participant who is on topical IOP lowering treatment may also be included.
* Participant has a spherical equivalent refractive error between + 8.00 D and - 10.00…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Change from baseline in best corrected visual acuity (BCVA) at month 12