A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls

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.

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Key information

Conditions

Williams Syndrome Aortic Stenosis, Supravalvular Aortic Valve Disease Aortic Valve Stenosis Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heart Diseases Heart Valve Diseases Induced Pluripotent Stem Cell (Ips Cell) Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations

Age range

3 year–12 year

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

one-time peripheral blood collection

Other

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 outcomes

Establishment of induced pluripotent stem cell (iPSC) lines derived from subject peripheral blood mononuclear cells (PBMCs)

Time frame: Baseline

Study contacts

Contact information is provided by the study sponsor or research team.

Ai Cao

CONTACT

[email protected]

18560086317

Sponsors and collaborators

Lead sponsor

Qilu Hospital of Shandong University

Other

Registry information

Important dates

Study start: 2026
Primary completion: 2027
Study completion: 2027
First posted: Apr 17, 2026
Registry last updated: Apr 17, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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