Natural History of Eye Diseases Related to ABCA4 Mutations (NCT01736293)
Natural History of ABCA4-Related Retinopathies
🩺 Plain-English Summary (8th-Grade Level)
Background: \- The ABCA4 gene contains a blueprint for the ABCA4 protein. When this protein is absent or faulty (such as in Stargardt s disease), waste material from dead cells collects in the eye. The waste material may cause other cells in the eye to die. This can lead to the loss of vision. Researchers want to look at blood and skin samples from people with ABCA4 gene mutations to study related eye diseases. Objectives: \- To study eye diseases that are related to mutations in the ABCA4 gene. Eligibility: \- Individuals at least 12 years of age who have ABCA4 gene mutations. Design: * The study requires 12 visits to the National Eye Institute clinic over 10 years. In the first year, there will be three visits. After the first year, participants will have one visit a year for 9 more years. * Participants will be screened with a physical exam, full eye exam, and medical history. The eye exam will check eye pressure, light and color sensitivity, and retina function. * Participants will provide a blood sample and a skin tissue sample for study. * No treatment will be provided as part of this study.
Who can join: Review the eligibility criteria below.
Location: National Institutes of Health Clinical Center — Bethesda, Maryland
Age range: 12 Years to 100 Years
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (1 Sites)
- National Institutes of Health Clinical Center — Bethesda, Maryland
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in Retinal Degeneration
- Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F — San Francisco, California
- SGLT2 Inhibitors in Geographic Atrophy — St Louis, Missouri
- Rod and Cone Mediated Function in Retinal Disease — Bethesda, Maryland
- Adaptive Optics Imaging of Outer Retinal Diseases — Bethesda, Maryland
Explore by condition: All Retinal Degeneration clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Review the official NIH record below to find the coordinating site.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.