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 range6 Years

SexALL

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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…

What they're measuring

Change from baseline in best corrected visual acuity (BCVA) at month 12

Timeframe: Baseline and Month 12

Trial details

NCT IDNCT07425574

SponsorAstellas Pharma Global Development, Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2028-07-31

Contact for this trial

Astellas Pharma Global Development, Inc.

800-888-7704 Astellas.registration@astellas.com