Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism, an International, Multicenter Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- Generation of patient-specific induced pluripotent stem cells and then differentiate them into neural cells.
研究概览
简要总结
Human induced pluripotent stem cells (iPSCs), are reprogrammed from somatic cells that can self-renew indefinitely and produce different types of cells. They provide human model cell lines for orphan drug development. It is the goal of this study to define new cellular disease models for Inborn Erors of Metabolism, as enabling tools for both drug discovery and development.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 2 Months 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Informed consent is obtained from the participant or from the parent/ legal guardian
- •The participant is aged between 2 months and 50 years
- •The diagnosis of an Inborn Error of Metabolism (IEM) is genetically confirmed by Centogene
- •The participant is a first-degree or a second-degree relative of an individual with Inborn Error of Metabolism (IEM) genetically confirmed by Centogene
排除标准
- •Inability to provide informed consent
- •The participant is younger than 2 months or older than 50 years
- •The diagnosis of an Inborn Error of Metabolism (IEM) is not genetically confirmed by Centogene and
- •The participant is not a first-degree or a seconddegree relative of an individual with Inborn Error of Metabolism (IEM) genetically confirmed by Centogene
- •Previously enrolled in the study
结局指标
主要结局
Generation of patient-specific induced pluripotent stem cells and then differentiate them into neural cells.
时间窗: 1 day
To generate patient-specific induced pluripotent stem cells and then differentiate them into neural cells, or other specific cell according to the Inborn Error of Metabolism, to study the misfolded proteins in endoplasmic reticulum, their role in untranslated protein response, and possible mechanisms to shuttle the misfolded proteins into lysosomes.
次要结局
未报告次要终点