Autoimmunity in Patients With GAD-Ab and Their Relatives
Keywords
Abstract
Description
A group of poorly studied immune-mediated neurological syndromes are associated with antibodies against glutamic-acid decarboxylase (GAD-Ab). GAD is the rate-limiting enzyme for the synthesis of gamma aminobutyric acid (GABA) from glutamate and is expressed by inhibitory neurons of the central nervous system. Neurological syndromes with anti-GAD antibodies (GAD-Ab) are often non-paraneoplastic. They mainly include limbic encephalitis (LE), cerebellar ataxia (CA) and stiff-person syndrome (SPS). Although the pathogenic role of GAD-Ab is controversial, most patients have high serum levels and GAD-Ab are also detected in the cerebrospinal fluid (CSF) along with other inflammatory abnormalities such as oligoclonal bands. GAD-Ab may also be present in the serum of T1DM patients, as pancreatic beta cells also express GAD, but usually at much lower titers than those of neurological patients. Organ-specific autoimmune diseases, such as T1DM and autoimmune thyroid disease, are common among patients with GAD-Ab and neurological syndromes and in their relatives, suggesting a shared genetic predisposition to autoimmune disorders. This is also supported by family reports of neurological syndromes with GAD-Ab and some HLA associations described in SPS.
The aim of this study is to describe the different autoimmune organ-specific diseases present in patients with GAD-Ab and their relatives, along with to identify families with higher aggregation of autoimmune diseases and establish potential ways of inheritability.
Dates
| Last Verified: | 08/31/2019 |
| First Submitted: | 09/23/2019 |
| Estimated Enrollment Submitted: | 09/23/2019 |
| First Posted: | 09/25/2019 |
| Last Update Submitted: | 09/25/2019 |
| Last Update Posted: | 09/26/2019 |
| Actual Study Start Date: | 09/29/2019 |
| Estimated Primary Completion Date: | 08/29/2020 |
| Estimated Study Completion Date: | 09/29/2020 |
Condition or disease
Phase
Arm Groups
| Arm | Intervention/treatment |
|---|---|
| patients with neurological syndromes and GAD-Ab This is a non-interventional study involving clinical data already stored in the database of the Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes, or collected by the referral physicians the day of ordinary consultations. No biological sample is necessary to perform this study. |
Eligibility Criteria
| Ages Eligible for Study | 18 Years To 18 Years |
| Sexes Eligible for Study | All |
| Sampling method | Non-Probability Sample |
| Accepts Healthy Volunteers | Yes |
| Criteria | Inclusion Criteria: - Patient with a well-known neurological syndrome associated with Gad-Ab (LE, CA, SPS) - Patient with an CSF positive for GAD-Ab; - Patient witn an Age > 18 years old. Exclusion Criteria: - Patient with absence of complete clinical data. - Patient with CSF not tested or negative for GAD-Ab |
Outcome
Primary Outcome Measures
1. Autoimmune organ-specific diseases in patients with GAD-Ab and their relatives [12 Months]
Secondary Outcome Measures
1. Inheritability in neurological syndromes with GAD-Ab [12 Months]
