Clinico-immunological Characterization and Immune Tolerance Breakdown in HU-autoimmunity

NCT ID: NCT05745792

Last Updated: 2023-02-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

400 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-02-01

Study Completion Date

2025-02-01

Brief Summary

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Phenotypic characterization of patients with Hu-Abs, including the different neurological presentation and the presence or not of an underlying cancer.

Analysis and clinical correlation of the diagnostic techniques for Hu-Abs detection (immunofluorescence, immunodot/Western blot, and CBA) in serum and/or CSF.

Genomic and transcriptomic features of tumors (histological and immune infiltrate characteristics, transcriptomic profile, mutational status).

Detailed Description

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Conditions

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Immune Tolerance

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Patients with Hu Abs

Patients harboring Hu Abs and a neurological syndrome

Description of clinical, immunological and tumor features of patients harboring Hu Abs

Intervention Type OTHER

This observationnal study involves clinical data and bio. samples (DNA and tumors block). Demographic and clinical data already in French Reference Center on PNS database will be reviewed. Additional data will be obtained from the referral physicians. The results of diagnostic tests performed to detect Hu-Abs in the patients are already in this database and will be retrospectively analyzed. In addition, the 4 available techniques (immunofluorescence, commercial immunodot, Western blot, and CBA) will be performed from Jan. 2022 to Dec. 2022.Tumor samples from 2 cohorts will be analyzed: (i) tumors of patients with Hu-Abs and PNS, and (ii) tumors of patients without PNS (mostly SCLC). After selecting patients, the study will involve 3 steps: (i) pathological confirmation; (ii) DNA sequencing and CNV analysis (panel of genes involved in anti-Hu autoimmunity; mainly ELAVL1 to 4, encoding for HuA to HuD, the 4 main proteins of the Hu family); and (iii) whole-genome RNA sequencing.

Interventions

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Description of clinical, immunological and tumor features of patients harboring Hu Abs

This observationnal study involves clinical data and bio. samples (DNA and tumors block). Demographic and clinical data already in French Reference Center on PNS database will be reviewed. Additional data will be obtained from the referral physicians. The results of diagnostic tests performed to detect Hu-Abs in the patients are already in this database and will be retrospectively analyzed. In addition, the 4 available techniques (immunofluorescence, commercial immunodot, Western blot, and CBA) will be performed from Jan. 2022 to Dec. 2022.Tumor samples from 2 cohorts will be analyzed: (i) tumors of patients with Hu-Abs and PNS, and (ii) tumors of patients without PNS (mostly SCLC). After selecting patients, the study will involve 3 steps: (i) pathological confirmation; (ii) DNA sequencing and CNV analysis (panel of genes involved in anti-Hu autoimmunity; mainly ELAVL1 to 4, encoding for HuA to HuD, the 4 main proteins of the Hu family); and (iii) whole-genome RNA sequencing.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Patient with neurological disorder
* Patient with Hu antibody in sera or CSF

Exclusion Criteria

* Patient with no data
* Patient without neurological disorder
* Patient without Hu antibody in sera/CSF
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Hospices Civils de Lyon

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites autoimmunes

Lyon, , France

Site Status

Countries

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France

Other Identifiers

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751

Identifier Type: -

Identifier Source: org_study_id

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