Clinical Trial Details
— Status: Completed
Administrative data
NCT number |
NCT04708626 |
Other study ID # |
DNR2019-03068 |
Secondary ID |
|
Status |
Completed |
Phase |
|
First received |
|
Last updated |
|
Start date |
October 1, 2019 |
Est. completion date |
August 1, 2022 |
Study information
Verified date |
November 2022 |
Source |
Uppsala University |
Contact |
n/a |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational
|
Clinical Trial Summary
Autoimmune encephalitis and paraneoplastic neurological syndromes are rare diseases caused by
an abnormal immune response toward the nervous system. This can lead to life-threatening
symptoms, but is in many cases treatable if a swift and correct diagnosis is made. Antibodies
targeting neuronal proteins (i.e. "neuronal antibodies") can be detected in serum or
cerebrospinal fluid (CSF) in about half of the patients suffering from these conditions.
Although an important part of the diagnostical process of these conditions, diagnosis cannot
be made only based on a positive antibody test, but the clinical findings have to be
compatible as well. As these conditions are so rare, clinicians might struggle to interpret
antibody test results.
In this study the investigators aim to estimate the incidence rate of autoimmune
encephalitides and paraneoplastic neurological syndromes in the Uppsala-Örebro health care
region in Sweden between the years 2015 and 2019. Medical records from patients belonging to
the Uppsala-Örebro health care region (a region in the middle of Sweden with a population of
approximately 2.1 million), that tested positive for any neuronal antibody in serum or CSF
will be studied to obtain clinical, laboratory and radiological data. This data will be used
to ascertain if diagnostic criteria are fulfilled as well as to describe clinical
characteristics and identifying possible comorbidities.
Description:
Methods:
1. Identification of extended cohort:
The extended cohort consists of all patients in Sweden tested for any neuronal antibody
in serum or CSF between 2015 and 2019. Patients will be identified by the only five
laboratories that perform tests for neuronal antibodies in Sweden. The following
neuronal antibodies will be included: AMPA 1 (Anti-Glutamate Receptor 1), AMPA 2
(Anti-Glutamate Receptor 2), Amphiphysin, CARP VIII (Carbonic Anhydrase-Related Protein
VIII), CASPR2 (Contactin-associated protein-like 2), CV2/CRMP5 (collapsin response
mediator protein 5), DPPX (dipeptidyl-peptidase-like protein 6), GABA B (γ-Aminobutyric
acid-B receptor), GAD65 (glutamic acid decarboxylase) (>2000 IU/ml by ELISA in serum, or
detected in CSF), glycine receptor, Homer 3, Hu (antineuronal nuclear antibody-type 1,
ANNA-1), IgLON5 (immunoglobulin-like cell adhesion molecule 5 ), ITPR1 (inositol
1,4,5-trisphophate receptor type 1), LGI-1 (Leucine-rich glioma-inactivated 1), Ma2/Ta,
NMDAR (anti-N-methyl-D-aspartate receptor), PCA-2 (Purkinje cell cytoplasmic antibody
type 2), Tr (Trotter), Ri, SOX1(SRY-Box Transcription Factor 1), VGCC (Voltage-gated
calcium channels), Yo, Zic4 (Zinc finger protein).
2. Identification of geographical region:
Patients testing positive for any neuronal antibody in serum or CSF will be stratified
according to which Swedish health care region that requested the test. Patients whose
tests where requested by health care providers in the Uppsala-Örebro health care region
(consisting of 7 smaller health care regions with a total population of approximately
2.1 million) will be selected.
3. Core cohort:
Patients with a positive test result that belong to the Uppsala-Örebro health care
region will be contacted and asked to participate in the study. Written informed consent
must be signed to be included in the core cohort. If the patient is deceased, consent
will be presumed.
4. Case ascertainment:
Medical records from patients included in the core cohort will be reviewed to obtain
clinical, laboratory and radiological data. Ascertainment of a case is defined as the patient
either fulfilling criteria of: 1) "definite PNS" according to Graus et. al 2021 or 2)
"definite autoimmune limbic encephalitis" according to Graus et al. 2016 or 3) "definite
anti-NMDA receptor encephalitis" according to Graus et al. 2016.