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NCT04104620: FamilyGAD

Autoimmunity in Patients With GAD-Ab and Their Relatives

Status unknown Last updated 27 September 2019
What this trial tests

trial in Neurological Syndromes With GAD-Ab in 100 participants. Status unknown.

Timeline
30 September 2019
Primary endpoint
30 August 2020
30 September 2020

Quick facts

Lead sponsorHospices Civils de Lyon
StatusStatus unknown
Study typeOBSERVATIONAL
Enrollment100
Start date30 September 2019
Primary completion30 August 2020
Estimated completion30 September 2020

Conditions studied

Sponsor

Hospices Civils de Lyon — full company profile →

Who can join

18 and older, any sex, with Neurological Syndromes With GAD-Ab or Organ-specific Autoimmune Diseases. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own 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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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