Primary Objective: We aim to provide a clear phenotype of the immune system in patients with FOXP1 syndrome. Secondary Objectives:We aim to correlate the immunophenotype of patients with FOXP1 syndrome with frequency and type of infections reported…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
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 outcome
Answers to questionnaires F1 and F2.
Demographics of the patient (age, gender)
Genetic mutation in FOXP1.
Background summary
Many persons with FOXP1 syndrome have frequent infecties.
Based on in vitro studies there seems to be an important role for FOXP1 in the
immune system.
For a more detailed background, we refer to the study protocol.
Study objective
Primary Objective:
We aim to provide a clear phenotype of the immune system in patients with FOXP1
syndrome.
Secondary Objectives:
We aim to correlate the immunophenotype of patients with FOXP1 syndrome with
frequency and type of infections reported by patients and/or their parents.
We aim to correlate the immunophenotype of patients with FOXP1 syndrome with
frequency and type of auto-immune problems reported by patients and/or their
parents.
Study design
This is a cross-sectional study without an intervention.
Study burden and risks
This study can only be performed in subjects having FOXP1 syndrome. There are
no additional risks(since it is added to a planned clinical venapuncture).
Since many individuals with FOXP1 syndrome have frequent infections, the
analysis of the immune system might lead to an explanation of the phenotype and
possible preventive and/or therapeutic measures. The results will therefore be
interpreted by an experience (paediatric) immunologist
The possible benefits for the group are that preventive and/or therapeutic
measures may become available, and that the collection of these data may
indicate whether analysis of the immune system should be performed in all
individuals with FOXP1 syndrome.
Albinusdreef 2
Leiden 2333ZA
NL
Albinusdreef 2
Leiden 2333ZA
NL
Listed location countries
Age
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)
Design
Recruitment
metc-ldd@lumc.nl
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL78568.058.21 |