Explore the NIHProtocol Details
Natural History of ABCA4-Related Retinopathies
This study is currently recruiting participants.
Summary | Eligibility | Citations | Contacts
Summary
Number |
12-EI-0203 |
Sponsoring Institute |
National Eye Institute (NEI) |
Recruitment Detail |
Type: Participants currently recruited/enrolled |
Referral Letter Required |
Yes |
Population Exclusion(s) |
None |
Special Instructions |
Currently Not Provided |
Keywords |
Retinal Degeneration |
Recruitment Keyword(s) |
None |
Condition(s) |
Retinal Degeneration; |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
|
- 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 seven visits to the National Eye Institute clinic over 5 years. In the first year, there will be three visits. After the first year, participants will have one visit a year for 4 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.
Eligibility
NCLUSION CRITERIA:
Participant must be 12 years of age or older.
Participant (or legal guardian) must understand and sign the protocol's informed consent document.
Participant must be able to cooperate with detailed psychophysics and electrophysiology testing.
Participant must be able to provide a blood sample.
Participant has either:
-Two (or more) clear mutations in the ABCA4 gene (ascertained with CLIA-certified testing) that are known to be associated with retinal disease,
OR
-One clear mutation in ABCA4 associated with a classic presentation of fundus flavimaculatus/Stargardt macular dystrophy (e.g., flecks, macular atrophy).
EXCLUSION CRITERIA:
Participant has evidence of a systemic condition or ocular disease not related to ABCA4 mutations that would complicate the analysis of psychophysical, electrophysiological, or imaging data. For example, a participant with advanced diabetes mellitus and significant diabetic retinopathy may display changes in retinal function that could be related to either his/her diabetic retinopathy or ABCA4 mutations.
Citations:
Contacts:
Principal Investigator |
Referral Contact |
For more information: |
| Brian P. Brooks, M.D. National Eye Institute (NEI) National Institutes of Health Building 10 Room 10N226 10 Center Drive Bethesda, Maryland 20892 (301) 435-3032 BrooksB@mail.nih.gov |
Casey K. Hadsall, R.N. National Eye Institute (NEI) National Institutes of Health Building 10 Room 10D45 10 Center Drive Bethesda, Maryland 20892 (301) 594-3141 cferguson1@mail.nih.gov |
Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov |
QUESTIONS?
Contact the Patient Recruitment and Public Liaison Office for:
- Details on how to participate in a study
- Details on how to refer a patient to a study
NIH Clinical Studies Information Request
Contact the Office of Communications for:
- General information about the NIH Clinical Center
Contact the Department Clinical Research Informatics, (DCRI) for:
- Technical questions about Adobe Acrobat and the PDF format
- Technical questions about this web server
