Williams SyndromeNCT07537374
A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls
An observational study of Williams Syndrome and Induced Pluripotent Stem Cell (Ips Cell), run by Qilu Hospital of Shandong University.
Trial 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… Read more about this study
- Who is it for?
- Ages 3 to 12 yearsHealthy volunteers can take part
- Conditions the study is for
- Williams Syndrome, Induced Pluripotent Stem Cell (Ips Cell)
- What is being tested?
- one-time peripheral blood collection
- How many people
- 6 participants
- Where
- No sites listed yet
- Study dates
- 1 Apr 2026to 1 Jan 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 12 years
- All sexes
- Healthy volunteers accepted
- Child
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.
Who may be able to join
- 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;
Who cannot join
- 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.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
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.
- Being tested
- one-time peripheral blood collection
- Keywords
- Williams syndrome, induced pluripotent stem cell (ips cell)
- Medical subject headings
- Williams Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
one-time peripheral blood collectionOther
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
| Study group | Role | What they receive |
|---|---|---|
| Williams Syndrome | Not described Receives: Other: one-time peripheral blood collection | |
| healthy children | Not described Receives: Other: one-time peripheral blood collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Establishment of induced pluripotent stem cell (iPSC) lines derived from subject peripheral blood mononuclear cells (PBMCs)
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Apr 2026
- Study start1 Apr 2026 (estimated)
- Primary completion1 Jan 2027 (estimated)
- Study completion1 Jan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Williams SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Qilu Hospital of Shandong University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07537374
- Sponsor's protocol ID
- QL000009
- Status last verified
- Mar 2026
- First submitted
- 29 Mar 2026
- Last updated
- 17 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 17 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls
- ClinicalTrials.gov ID
- NCT07537374
- Acronym / sponsor ID
- QL000009
- Keywords
- Williams syndrome, induced pluripotent stem cell (ips cell)
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Qilu Hospital of Shandong UniversityUniversity, hospital or other
- Study start
- 1 Apr 2026 (estimated)
- Primary completion
- 1 Jan 2027 (estimated)
- Study completion
- 1 Jan 2027 (estimated)
- First posted
- 17 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Williams Syndrome | – | Other: one-time peripheral blood collection |
| healthy children | – | Other: one-time peripheral blood collection |
Who may qualify
- Ages
- 3 to 12 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- 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.
Key inclusion criteria (4 listed)
- 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;
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| one-time peripheral blood collectionIn 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 | Other | Williams Syndrome, healthy children |
Primary outcome
Establishment of induced pluripotent stem cell (iPSC) lines derived from subject peripheral blood mononuclear cells (PBMCs)
Time frame: Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Apr 2026.
- Individual participant dataSharing planned: Yes
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Questions about this trial
What is this clinical trial studying?
An observational study of Williams Syndrome and Induced Pluripotent Stem Cell (Ips Cell), run by Qilu Hospital of Shandong University.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 17 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ai Cao (18560086317, qlyyebk@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establishment of induced pluripotent stem cell (iPSC) lines derived from subject peripheral blood mononuclear cells (PBMCs) (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Apr 2026.