Our aims are to analyse whether there is a specific HLA allele or allelic combination associated with susceptibility to LGI1 encephalitis, and to perform a pilot study with HLA subtyping in patients with encephalitis due to antibodies to Caspr2,…
ID
Source
Brief title
Condition
- Autoimmune disorders
- Central nervous system infections and inflammations
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The frequency of HLA-A, B, C, DR and DQ alleles
Secondary outcome
If a specific HLA allele is detected in a subgroup of LGI1 patients, we will
analyze whether there are specific patient characteristics or disease
characteristics in this subgroup
Amendement: analyze the relevant LGI1 epitope (fragment of the protein to which
inflammatory cells bind)
Background summary
Limbic encephalitis is an autoimmune inflammation of the brain, causing
subacute cognitive decline and seizures. Several antibodies causing this
inflammation have been discovered in the last eight years, among which are
anti-NMDA receptor antibodies (2007) are and anti-LGI1 antibodies (2010).
Clinical syndrome depends on the antibody involved. Incidence is growing in
all, probably due to better recognition of disease. Etiology of antibody
production is unknown. A part of the patients have a tumor, autoimmune disease
is suspected in the rest of the patients. The most important genetic marker for
autoimmune disease is HLA genotype. Specific HLA subtype have been linked to
several autoimmune diseases, but no studies analysed HLA genotype in antibody
mediated limbic encephalitis. We have results of HLA subtyping in four patients
with anti-LGI1 antibodies and found a common HLA-DR serotype in all.
Amendement: results of the first 11 LGI1 patients (plus 4 earlier patients)
show a common HLA-DR allele. This strong association with a single HLA-molecule
results in the question how this molecules binds the LGI1 protein. To address
this issue, we are planned to tap extra blood from the last five LGI1
inclusions to isolate inflammatory cells and analyze to which fragment of the
LGI1 protein these cells bind. We hope to detect the relevant epitope.
Study objective
Our aims are to analyse whether there is a specific HLA allele or allelic
combination associated with susceptibility to LGI1 encephalitis, and to perform
a pilot study with HLA subtyping in patients with encephalitis due to
antibodies to Caspr2, NMDAR, GABA-B and GAD65.
Amendement: the aim of extension of the study is to analyze which part of het
LGI1 protein binds to the HLA-DR molecule, and how this binding occurs.
Study design
Case-control study
Study burden and risks
Blood sample will be taken once. Blood collection can be performed at a local
laboratory of patients* choice. If possible, this will be combined with
scheduled blood test. All patients are aware of the procedure since they have
had venepuncture before. Puncture may cause moderate pain in patients. There is
a risk for short-term feeling of light-headedness and a risk of hematoma.
's Gravendijkwal 230
Rotterdam 3015CE
NL
's Gravendijkwal 230
Rotterdam 3015CE
NL
Listed location countries
Age
Inclusion criteria
- Limbic encephalitis due to antibodies to LGI1, Caspr2, NMDAR, GABA-B or GAD65, recently or in the past
- Current age > 18 years
- Caucasoid race
Exclusion criteria
- Not mentally competent to give informed consent
- Patient is withholding informed consent, or objects after initial 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 | NL53927.078.15 |