A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: one-time peripheral blood collection.
- Who it may be relevant to
- Registry conditions: Williams Syndrome, Induced Pluripotent Stem Cell (Ips Cell). Basic parameters: 3 years — 12 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- Other one-time peripheral blood collection
In this study, the operation directly involving the subjects was only a one-time peripheral blood collection. The collected biological samples will be used for: * Peripheral blood cell separation * Establishment and characterization of iPSCs * Directed differentiation of NPCs and oligodendrocyte lineages * Immunological, transcriptomic and single-cell transcriptomic analyses
Primary outcome measures
- Establishment of induced pluripotent stem cell (iPSC) lines derived from subject peripheral blood mononuclear cells (PBMCs) [Time frame: Baseline]
Eligibility criteria
Inclusion criteria
- 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;
Exclusion criteria
- 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT07537374 · QL000009