An Observational Study of Natural Disease Progression in Participants With Macular Dystrophies Expressing a Stargardt-type Clinical Presentation
Astellas Pharma Global Development, Inc.
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.
Eligibility
- Age range
- 6+ years
- Sex
- All
- Healthy volunteers
- No
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 perf…
Interventions
- OtherNo Intervention
No investigational drug will be administered to participants in this study.
Locations (4)
- Associated Retina ConsultantsPhoenix, Arizona
- Stanford University School of MedicinePalo Alto, California
- Duke Eye CenterDurham, North Carolina
- Retina Foundation of the SouthwestDallas, Texas