Collection of biomaterial for iPSCs to study the molecular mechanisms underlying Witteveen-Kolk syndrome

Collection of biomaterial for iPSCs to study the molecular mechanisms underlying Witteveen-Kolk syndrome - WitKoS molecular study

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON53284

Enrollment

Registered

2023-08-08

Start date

2023-10-31

Completion date

Unknown

Last updated

2024-11-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Witteveen-Kolk syndrome

Interventions

None listed

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

Inclusion criteria: - Written informed consent to participate in this study - Having a (likely) pathogenic variant in SIN3A - Clinical diagnosis of WitKoS as judged by the principal investigator - Age >= 18 years

Exclusion criteria

Exclusion criteria: - Subjects who do not meet the inclusion criteria - Subjects with another genetic variant (e.g. copy number variation, single nucleotide variant) that most likely contributes to the neurodevelopmental phenotype.

Design outcomes

Primary

Measure	Time frame
The main study parameter is the differences in cell morphology, tissue architecture, transcriptomic profile and cellular function between patient and healthy control derived organoids.	—

Secondary

Measure	Time frame
- Study the effect of medication on WitKoS patient-derived iPSC based models. - Study whether iPSCs derived from blood will form neural organoids equally well compared to organoids from skin cell derived iPSC lines.	—

Countries

Netherlands

Outcome results