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Trial record 4 of 1730 for:    Recruiting, Not yet recruiting, Available Studies | Autoimmunity

Autoimmunity in Patients With GAD-Ab and Their Relatives (FamilyGAD)

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ClinicalTrials.gov Identifier: NCT04104620
Recruitment Status : Not yet recruiting
First Posted : September 26, 2019
Last Update Posted : September 27, 2019
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon

Brief Summary:

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.


Condition or disease
Neurological Syndromes With GAD-Ab Organ-specific Autoimmune Diseases

Detailed 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.


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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration: 1 Year
Official Title: Autoimmunity Family Background in Neurological Syndromes With Antibodies Against Glutamic-acid Decarboxylase
Estimated Study Start Date : September 30, 2019
Estimated Primary Completion Date : August 30, 2020
Estimated Study Completion Date : September 30, 2020

Resource links provided by the National Library of Medicine


Group/Cohort
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.



Primary Outcome Measures :
  1. Autoimmune organ-specific diseases in patients with GAD-Ab and their relatives [ Time Frame: 12 Months ]
    To collect the different autoimmune organ-specific diseases present in patients with GAD-Ab and their relatives


Secondary Outcome Measures :
  1. Inheritability in neurological syndromes with GAD-Ab [ Time Frame: 12 Months ]
    To establish potential common ways of inheritability in neurological syndromes with GAD-Ab and organ-specific autoimmune diseases



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with neurological syndromes and GAD-Ab included in the database from the Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes, Lyon
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04104620


Contacts
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Contact: Jerome HONNORAT, phd 4 72 35 78 08 ext 33 jerome.honnorat@chu-lyon.fr
Contact: Géraldine PICARD 4 72 35 58 42 ext 33 geraldine.picard@chu-lyon.fr

Sponsors and Collaborators
Hospices Civils de Lyon
Investigators
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Principal Investigator: Jerome HONNORAT, phd Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes, Lyon, France

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Responsible Party: Hospices Civils de Lyon
ClinicalTrials.gov Identifier: NCT04104620     History of Changes
Other Study ID Numbers: FamilyGAD
First Posted: September 26, 2019    Key Record Dates
Last Update Posted: September 27, 2019
Last Verified: September 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Autoimmune Diseases
Syndrome
Disease
Pathologic Processes
Immune System Diseases