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

April 15, 2026 updated by: Qilu Hospital of Shandong University
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.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

6

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

Yes

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.

Description

Inclusion Criteria:

  1. The clinical diagnosis is Williams syndrome.
  2. Child subjects;
  3. The guardian signs the informed consent form. If necessary, the subject himself/herself signs the informed consent or the informed consent with additional consent.
  4. Be capable of completing peripheral blood collection;

Exclusion Criteria:

  1. Cases of severe infection, severe hematological diseases or other conditions that make blood collection inappropriate;
  2. Recent receipt of special treatments that may significantly affect the state of peripheral blood cells;
  3. Insufficient sample volume or poor sample quality that does not meet the requirements for reprogramming experiments;
  4. Guardians' refusal to allow the samples to be used for iPSC establishment and subsequent research;
  5. Other circumstances judged by the researchers as not suitable for inclusion in this study.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
healthy children
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
Williams Syndrome
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Establishment of induced pluripotent stem cell (iPSC) lines derived from subject peripheral blood mononuclear cells (PBMCs)
Time Frame: Baseline
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Qilu Hospital of Shandong University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

April 1, 2026

Primary Completion (Estimated)

January 1, 2027

Study Completion (Estimated)

January 1, 2027

Study Registration Dates

First Submitted

March 29, 2026

First Submitted That Met QC Criteria

April 15, 2026

First Posted (Actual)

April 17, 2026

Study Record Updates

Last Update Posted (Actual)

April 17, 2026

Last Update Submitted That Met QC Criteria

April 15, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • QL000009

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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