A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 6
- 主要终点
- Establishment of induced pluripotent stem cell (iPSC) lines derived from subject peripheral blood mononuclear cells (PBMCs)
研究概览
简要总结
This study aims to collect peripheral blood samples from children with Williams syndrome (WS) and healthy children, establish a cell line of induced pluripotent stem cells (iPSCs) derived from the subjects, and further induce and differentiate them into neural progenitor cells (NPCs) and oligodendrocyte lineage cells for in vitro studies on the cellular and molecular mechanisms of WS-related neurodevelopmental abnormalities. Based on previous basic and pre-experimental results, the study focuses on the developmental transition of oligodendrocyte lineage from OPC to pre-OL, immature oligodendrocytes, and mature oligodendrocytes, and specifically evaluates the programs of myelin-related genes, differentiation trajectories, and abnormalities in related pathways such as GTF2I/FZD9, ERK/MAPK, and Wnt/β-catenin. The study design is an independent donor case-control study, and it plans to include 3 children with WS and 3 healthy children. Each sample will be independently sequenced.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Years 至 12 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •The clinical diagnosis is Williams syndrome.
- •Child subjects;
- •The guardian signs the informed consent form. If necessary, the subject himself/herself signs the informed consent or the informed consent with additional consent.
- •Be capable of completing peripheral blood collection;
排除标准
- •Cases of severe infection, severe hematological diseases or other conditions that make blood collection inappropriate;
- •Recent receipt of special treatments that may significantly affect the state of peripheral blood cells;
- •Insufficient sample volume or poor sample quality that does not meet the requirements for reprogramming experiments;
- •Guardians' refusal to allow the samples to be used for iPSC establishment and subsequent research;
- •Other circumstances judged by the researchers as not suitable for inclusion in this study.
研究组 & 干预措施
Williams Syndrome
干预措施: one-time peripheral blood collection (Other)
healthy children
干预措施: one-time peripheral blood collection (Other)
结局指标
主要结局
Establishment of induced pluripotent stem cell (iPSC) lines derived from subject peripheral blood mononuclear cells (PBMCs)
时间窗: Baseline
次要结局
未报告次要终点