Primary objectives:1. To determine the gene frequencies of HLA-A, B, C, DR and DQ in patients with autoimmune encephalitis and compare this to the general Dutch population. 2. To determine genetic risk factors for the development of autoimmune…
ID
Source
Brief title
Condition
- Autoimmune disorders
- Central nervous system infections and inflammations
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
1. Identification of a HLA allele or allelic combination associated in patients
with autoimmune encephalitis.
2. Determination of genetic risk factors for the development of autoimmune
encephalitis using Genome-Wide Association Studies (GWAS).
Secondary outcome
-
Background summary
Autoantibodies can cause severe encephalitis. A known genetic marker for
autoimmune diseases is HLA. Specific HLA types are found for certain types of
autoimmune encephalitis. Other genetic factors contributing to autoimmune
encephalitis are unknown. Due to the scarcity of the disease and the relatively
recent discovery of autoimmune encephalitis, the number of patients are small.
International collaboration will lead to cohorts of sufficient size, including
validation cohorts. This allows us to investigate which pathophysiological
mechanisms and immunological pathways are relevant for autoimmune encephalitis.
Study objective
Primary objectives:
1. To determine the gene frequencies of HLA-A, B, C, DR and DQ in patients with
autoimmune encephalitis and compare this to the general Dutch population.
2. To determine genetic risk factors for the development of autoimmune
encephalitis using GWAS.
Secondary objectives:
1. To determine the gene frequencies of HLA-A, B, C, DR and DQ in patients with
autoimmune encephalitis and compare this to the general population within an
international consortium.
2. To determine specific patient characteristics or disease characteristics
associated with a common HLA subtype within autoimmune encephalitis, per
antibody.
Study design
Case-control study.
Study burden and risks
One venepuncture will be performed, preferably in extension of a planned
venepuncture. The venepuncture has negligible risks and burden. There is no
direct benefit for the patient.
Doctor Molewaterplein 40
Rotterdam 3015 GD
NL
Doctor Molewaterplein 40
Rotterdam 3015 GD
NL
Listed location countries
Age
Inclusion criteria
- Age of 18 years and older.
- Diagnosis of autoimmune encephalitis (neuronal antibodies proven in serum or
CSF).
Exclusion criteria
- Patient and/or legal representative is withholding informed consent.
- Patient objects after initial informed consent.
Design
Recruitment
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 | NL74462.078.20 |