Generation of Induced Pluripotent Stem (iPS) Cell Lines From Skin Fibroblast Cells of Participants With Age-Related Macular Degeneration: An Ancillary Study to the Age-Related Eye Disease Study-2 (AREDS2)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 187
- 试验地点
- 14
- 主要终点
- The primary outcome is to develop a repository for iPS cells for investigators involved in vision research.
研究概览
简要总结
Background:
Age-related macular degeneration (AMD) is the leading cause of blindness in the United States. Currently, there is no safe way to obtain cells from the eye to study. But researchers now can turn other types of cells, like skin or blood, into induced pluripotent stem (iPS) cells. These can be grown in a lab and turned into other types of cells, like cells from the eye. This will allow researchers to understand and treat diseases of the eye such as AMD.
Objectives:
To establish a bank of samples that can be changed into other cell types, such as eye cells, to better understand diseases such as AMD. Also to test drugs in order to treat various eye diseases.
Eligibility:
People who provided DNA samples in another protocol (07-EI-0025)
Design:
Participants will be screened with their data from the previous protocol. Participants with select genetic variants will be chosen and contacted via phone.
Participants will have a punch skin biopsy. The skin will be washed. A numbing medication will be injected. A small piece of skin will be removed with a biopsy tool. The site will be covered with a dressing. They will receive instructions on how to care for the area. They will have follow-up visits if needed for clinical care for the area.
Participants may be asked to return if their first sample did not provide enough cells for the lab.
Participants sample will be developed into eye cells. The cells will be used to understand diseases and test new drugs.
详细描述
Objective
This ancillary study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells that can be differentiated into ocular cell types, to be used for study of molecular mechanisms of and development of treatments for age-related macular degeneration (AMD). This repository will allow the cells to be used to perform high throughput drug screens to identify novel potential therapeutic compounds. Although research involving multiple different ocular cell types from these patients may be performed, the vast majority of the work will be centered on the retinal pigment epithelium (RPE) and neural retina. RPE and/or neural retinal cells generated from the iPS cells of participants with AMD will be used to analyze molecular mechanisms involved in disease initiation and progression.
Study Population: We plan to recruit 100 participants across multiple sites with AMD from the original cohort of study participants enrolled in the AREDS2 who are returning for a 10 year in-clinic study visit and have donated DNA in the AREDS2 study. Up to two participants will be enrolled at NEI. Participants with the highest genetic burden as well as those with rare variants will be included in the population.
Design: A 520 blood sample will be collected from 350 participants with specific genetic variants that are identified prior to the start of the study. Up to 60 participants will be enrolled at NEI. All of these participants were previously enrolled in the AREDS2 protocol (07-EI-0025) and they are returning for a 10-year in-clinic study visit for further phenotyping and for assessing the long-term effects of the ARESD2 supplements. Collected samples will be used to analyze molecular mechanisms involved in disease initiation and progression. In addition, the iPS cell-derived ocular cells may be used to perform high throughput (HTP) drug screens aimed at suppressing the molecular phenotypes of the disease and to identify potential therapeutic agents for these diseases. This study will typically require only one visit by each participant.
Outcome Measures: The primary outcome is to develop a repository for iPS cells for investigators involved in vision research. Secondary outcomes include the assessment of potential therapies for the treatment of age related macular disorder (AMD). There are no specific participant-based clinical outcomes for this protocol. Participants will, in general, be seen only once for this protocol, as this is an ancillary study to the main study.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 50 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
The primary outcome is to develop a repository for iPS cells for investigators involved in vision research.
时间窗: Ongoing
次要结局
- Secondary outcomes include the assessment of potential therapies for the treatment of age related macular disorder (AMD).(Ongoing)