Uncovering molecular mechanisms and neuronal pathways involved in SETBP1 disorder using human cell culture models

Uncovering molecular mechanisms and neuronal pathways involved in SETBP1 disorder using human cell culture models - The SETBP1 molecular study

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON48020

Enrollment

Registered

2019-10-08

Start date

2020-10-12

Completion date

Unknown

Last updated

2026-06-29

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

Conditions

neurodevelopmental disorder SETBP1 disorder

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: The subjects must carry a de novo pathogenic variant in the SETBP1 gene, where properties and functions of the encoded protein are likely to be affected; and display neurodevelopmental phenotypes

Exclusion criteria

Exclusion criteria: Subjects with another (possibly) pathogenic variant (CNV, SNV) that might contribute to the neurodevelopmental phenotype

Design outcomes

Primary

Measure	Time frame
* To identify differences in cellular morphologies between human iPSCs and iPSC-neuronal models derived from samples obtained from SETBP1 patients and controls. * To identify alterations in gene expression and chromatin accessibility * To categorise genes that show alterations in gene expression and chromatin accessibility into biological pathways with gene ontology tools	—

Countries

Netherlands

Outcome results