Cell Collection to Study Eye Diseases
- Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, and blood can be used for research. Researchers want to collect cells from people with Best disease, L-ORD, and AMD, and compare their cells with those of healthy volunteers.
- To collect hair, skin, and blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD.
- Individuals at least 18 years of age who have Best disease, L-ORD, or AMD in at least one eye.
- Healthy volunteers at least 18 years of age.
- The study requires one visit to the National Eye Institute.
- Participants will be screened with a medical and eye disease history. They will also have an eye exam.
- Participants will provide a hair sample, a blood sample, and a skin biopsy. The hair will be collected from the back of the head, and the skin will be collected from the inside of the upper arm.
|Retinal Disease AMD Retinal Degeneration|
|Study Design:||Observational Model: Family-Based
Time Perspective: Cross-Sectional
|Official Title:||Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls|
- Creation of iPS cells from at least 1 type of somatic tissue collected from participants, differentiation of iPS cells into RPE and/or neural retinal The creation of iPS cells from at least one type of somatic tissue collected from participants. [ Time Frame: Ongoing ]
|Study Start Date:||August 26, 2011|
Please refer to this study by its ClinicalTrials.gov identifier: NCT01432847
|Contact: Allison T Bamji, R.N.||(301) firstname.lastname@example.org|
|Contact: Brian P Brooks, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Brian P Brooks, M.D.||National Eye Institute (NEI)|