THE IMMUNE SYSTEM IN FOXP1 SYNDROME

THE IMMUNE SYSTEM IN FOXP1 SYNDROME - FOXP1 immune system

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON52094

Enrollment

Registered

2022-05-13

Start date

2021-10-05

Completion date

Unknown

Last updated

2025-08-18

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

Conditions

FOXP1 syndrome

Interventions

None listed

Eligibility

Age

2 Years to 64 Years

Inclusion criteria

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

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

Design outcomes

Primary

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

Secondary

Measure	Time frame
Answers to questionnaires F1 and F2. Demographics of the patient (age, gender) Genetic mutation in FOXP1.	—

Countries

Netherlands

Outcome results