THE IMMUNE SYSTEM IN FOXP1 SYNDROME

• Conditions: FOXP1 syndrome; FOXP1 mutation; 10083624

• Registration Number: NL-OMON52094
• Lead Sponsor: Klinische genetica

Brief Summary

Trial is onging in other countries

Detailed Description

Not available

Study Timeline

• Study Completion: 2023-12-21
• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 2

Inclusion Criteria

- Pathogenic mutation in the FOXP1 gene
- Phenotype in accordance with genotype (i.e. neurodevelopmental problems,
congenital abnormalities and/or dysmorphic features)
- Since age-appropriate references will be used for immune cell counts, there
are no age limitations

Exclusion Criteria

Allogenic stem cell transplantation (not a regular treatment for FOXP1
syndrome)

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>Immune system phenotype<br /><br>o Differential blood count<br /><br>o Immunoglobins (IgA, IgG including IgG subclasses, IgM)<br /><br>o Lymphocyte subset analysis<br /><br>* CD19/CD20 B cell counts, including B cell subset analysis* CD3+ T cell<br /><br>counts, including (naïve and memory) CD4+, CD8+ T cell counts<br /><br><br /><br>Second tier<br /><br>o FOXP3+ regulatory T cell counts<br /><br>o Functional analysis</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Answers to questionnaires F1 and F2.<br /><br>Demographics of the patient (age, gender)<br /><br>Genetic mutation in FOXP1. </p><br>