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

Recruiting

• Conditions: neurodevelopmental disorder; SETBP1 disorder; 10083624; 10057167

• Registration Number: NL-OMON48020
• Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 10

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

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

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>* To identify differences in cellular morphologies between human iPSCs and<br /><br>iPSC-neuronal models derived from samples obtained from SETBP1 patients and<br /><br>controls.<br /><br>* To identify alterations in gene expression and chromatin accessibility<br /><br>* To categorise genes that show alterations in gene expression and chromatin<br /><br>accessibility into biological pathways with gene ontology tools</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Not applicable</p><br>