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

NCT07537374 | Not Yet Recruiting DMC

• 1 other identifier: QL000009
• Study Type: observational
• Target: 6
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

Williams Syndrome; Induced Pluripotent Stem Cell (Ips Cell)

Keywords

Williams syndrome; induced pluripotent stem cell (ips cell)

Outcome Measures

Primary Outcomes (1)

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

  Baseline

Study Arms (2)

Williams Syndrome

Other: one-time peripheral blood collection

healthy children

Other: one-time peripheral blood collection

Interventions

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

Williams Syndrome; healthy children

Eligibility Criteria

• Age: 3 Years - 12 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

The subjects of this study were children with Williams syndrome who were treated or followed up at Qilu Hospital of Shandong University, as well as healthy children recruited from the pediatric outpatient department during the same period. The study intends to collect peripheral blood samples from these children as subjects, establish a source-derived induced pluripotent stem cell (iPSC) line for the subjects, and use it for subsequent in vitro differentiation and mechanism research. It is planned to include 3 children with Williams syndrome and 3 healthy children, all of whom are independent donor-derived samples.

You may qualify if:

• 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;

You may not qualify if:

• 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;

Sponsors & Collaborators

• Qilu Hospital of Shandong University: lead

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral blood collected in an EDTA anticoagulant tube

MeSH Terms

Conditions

Williams Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Aortic Stenosis, Supravalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Central Study Contacts

Ai Cao

CONTACT

18560086317; qlyyebk@163.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 29, 2026
• First Posted: April 17, 2026
• Study Start: April 1, 2026
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): January 1, 2027
• Last Updated: April 17, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share