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Natural History of Eye Diseases Related to ABCA4 Mutations

NCT01736293 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 68

Last updated 2026-05-22

No results posted yet for this study

Summary

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.

Conditions

  • Retinal Degeneration
  • ABCA4-Related Retinopathies

Sponsors & Collaborators

  • National Eye Institute (NEI)

    lead NIH

Principal Investigators

  • Brian P Brooks, M.D. · National Eye Institute (NEI)

Eligibility

Min Age
12 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-10-09

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01736293 on ClinicalTrials.gov