Feasibility, Validation and Differentiation of Induced Pluripotent Stem Cells Produced From Patients With Heritable Retinoblastoma
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 15
- 试验地点
- 1
- 主要终点
- Number of samples which successfully produced iPSCs
研究概览
简要总结
The goal of this study is to determine if human RB1-deficient induced pluripotent stem cells (iPSCs) can produce retina, and, furthermore, can give rise to retinoblastoma in culture. This unique opportunity to study the initiation of retinoblastoma in the developing retina will shed light on the cell of origin for retinoblastoma and allow the investigators to study the earliest molecular and cellular events in retinoblastoma tumorigenesis.
OBJECTIVES:
- To establish the feasibility of producing induced pluripotent stem cells (iPSCs) from retinoblastoma patients with germline RB1 mutations (RB1-deficient iPSCs).
- To validate human RB1-deficient iPSCs by confirming karyotype, pluripotency and RB1 mutation.
- To differentiate the RB1-deficient iPSCs into retina as a model of the initiation of retinoblastoma in the developing retina.
详细描述
This is an observational study where a small skin cell sample or peripheral blood sample will be used to produce iPSCs. After RB1-deficient iPSCs are produced, their karyotype and RB1 mutation will be confirmed and their pluripotency will be tested by studying the expression of pluripotent genes and proteins according to standardized guidelines established for human iPSCs. After validation of the RB1-deficient iPSCs, they will be differentiated in the laboratory into retina following established protocols.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Research participant with heritable retinoblastoma and one of the following criteria:
- •Family history with RB1 mutation identified
- •Diagnosis of bilateral retinoblastoma
- •Diagnosis of unilateral retinoblastoma with RB1 mutation or MYCN amplification identified
- •Participant or legal guardian/representative is able and willing to provide written informed consent.
排除标准
- •Participants who do not meet the inclusion criteria will be excluded.
结局指标
主要结局
Number of samples which successfully produced iPSCs
时间窗: Once at enrollment
Skin biopsy or peripheral blood mononuclear cells will be collected from eligible, consenting participants and shipped directly to the University of Wisconsin for processing. All samples will be returned to the St. Jude investigator within two months of reprogramming for further analysis.
次要结局
- Number of samples that differentiate human iPSCs toward an eye field fate(Once at enrollment)
- Number of samples with validated RB1-deficient iPSCs(Once at enrollment)