Cell Collection to Study Retinal 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.
|Official Title:||Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Retinal Disease and From Somatic Cells of Matched Controls|
|Study Start Date:||August 2011|
This study will establish a repository of biospecimens to generate induced pluripotent (iPS) stem cells to be used to determine molecular mechanisms for three potentially blinding retinal diseases: Best Vitelliform Dystrophy (Best Disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD). Skin fibroblasts, hair keratinocytes, and CD34+ blood cells will be collected from participants with Best Disease, L-ORD, and AMD and from age, gender and ethnicity-matched healthy participants.
Retinal pigment epithelium (RPE) cells generated from the iPS cells of patient and healthy volunteers will be used to analyze molecular mechanisms involved in disease initiation and progression. In addition, the iPS cell-derived RPE cells will be used to perform high throughput (HTP) drug screens aimed at suppressing the molecular phenotypes of the disease to identify potential therapeutic agents for Best disease, L-ORD, and AMD.
The primary objective of this study is to generate participant-specific RPE cells to be used to study the molecular mechanisms of and to develop treatments for Best disease,
L-ORD and AMD. This objective will be carried out in three phases. First, this study will establish a repository for fibroblasts, keratinocytes, and CD34+ blood cells collected from participants with these three diseases and from participants without any retinal diseases. Second, the somatic cell repository will be used to generate iPS cells, which will be differentiated into RPE cells. These RPE cells will be used to elucidate molecular pathways that have led to disease pathogenesis. In the third phase, the patient-specific RPE cells will be used to perform high throughput drug screens to identify novel potential therapeutic compounds.
We plan to recruit 25 participants with Best disease, 25 participants with
L-ORD, 50 participants with AMD and 75 healthy volunteers without any retinal disease. If possible, unaffected siblings and relatives of patients will be included as healthy volunteers.
In this basic science, research-oriented study, skin, hair and blood samples will be collected from participants with Best disease, L-ORD and AMD and from control participants matched for age, gender and ethnicity. The sample collection procedures will incur only minimal risk to participants. This study will typically require only one visit by each participant. The skin fibroblast, keratinocyte and CD34+ blood samples will then be used to generate patient-specific iPS cells and these cells will then be differentiated into RPE cells. The investigators will use the samples for research studies aimed at identifying molecular and signaling pathways underlying disease onset and progression and for developing potential therapeutic treatments for Best disease, L-ORD and AMD.
The outcome measures for this study include the creation of iPS cells from the three types of somatic tissues collected from each patient, the differentiation of iPS cells into RPE cells and the identification of molecular and physiological phenotypes in RPE cells that may be linked to the onset or progression of Best disease, L-ORD and AMD. This analysis may lead to the discovery of therapeutic interventions for these diseases. There are no specific patient-based clinical outcomes for this protocol. Participants will be seen only once for this protocol, as they will be receiving the standard of care under the NEI Evaluation and Treatment Protocol (08-EI-0169) or other NEI protocols.
|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)|