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Williams Syndrome iPSC Oligodendrocyte Study

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Summary

NIH's ClinicalTrials.gov has registered NCT07537374, a case-control observational study examining oligodendrocyte lineage development in children with Williams syndrome using peripheral blood-derived iPSC models. The study plans to enroll 3 children with Williams syndrome and 3 healthy controls, with samples induced into neural progenitor cells and oligodendrocyte lineage cells for in vitro studies of myelin-related gene programs and developmental trajectories.

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What changed

This ClinicalTrials.gov registration documents a new observational case-control study sponsored by NIH focusing on Williams syndrome and oligodendrocyte development using iPSC models derived from peripheral blood samples. The study will sequence individual samples and evaluate myelin-related gene programs and developmental trajectories including the GTF2I/FZD9, ERK/MAPK, and Wnt/β-catenin pathways.

Affected parties include research institutions conducting pediatric neurodevelopmental studies and sponsors of cell therapy programs targeting myelin disorders. The study is small (6 participants), observational in design (single peripheral blood collection), and does not involve investigational products or therapeutic interventions. Compliance implications are minimal, as the registration serves an informational and transparency purpose on ClinicalTrials.gov.

Archived snapshot

Apr 18, 2026

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

Observational NCT07537374 Kind: OBSERVATIONAL Apr 17, 2026

Abstract

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)

Interventions: one-time peripheral blood collection

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Last updated

Classification

Agency
NIH
Published
April 17th, 2026
Instrument
Notice
Legal weight
Non-binding
Stage
Final
Change scope
Minor
Document ID
NCT07537374

Who this affects

Applies to
Healthcare providers Patients
Industry sector
6211 Healthcare Providers
Activity scope
Clinical trial registration Stem cell research Neurodevelopmental study
Geographic scope
United States US

Taxonomy

Primary area
Healthcare
Operational domain
Clinical Operations
Topics
Pharmaceuticals Scientific Research

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