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

NCT05745792 | Unknown

• 1 other identifier: 751
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

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).

Conditions

Immune Tolerance

Keywords

PARANEOPLASTIC NEUROLOGICAL DISORDERS; LUNG CANCER; HU AUTOIMMUNITY; IMMUNE TOLERANCE BREAKDOWN

Outcome Measures

Primary Outcomes (1)

• Modified Rankin Scale (mRs)

  Application of modified rankin scale

  At 1 year

Study Arms (1)

Patients with Hu Abs

Patients harboring Hu Abs and a neurological syndrome

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

Interventions

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

Patients with Hu Abs

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients harboring Hu Abs in serum and/or CSF with or without cancer

You may qualify if:

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

You may not qualify if:

• Patient with no data
• Patient without neurological disorder
• Patient without Hu antibody in sera/CSF

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites autoimmunes

Lyon, 69677, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood, PBMCs, DNA, CSF and tumor collected at the time of diagnosis

MeSH Terms

Conditions

Lung Neoplasms

Condition Hierarchy (Ancestors)

Respiratory Tract Neoplasms; Thoracic Neoplasms; Neoplasms by Site; Neoplasms; Lung Diseases; Respiratory Tract Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 12, 2023
• First Posted: February 27, 2023
• Study Start: February 1, 2022
• Primary Completion: October 1, 2022
• Study Completion: February 1, 2025
• Last Updated: February 27, 2023

Record last verified: 2023-02

Locations

FR (1)