Genetic Architecture of Chronic Inflammatory Demyelinating Polyradiculoneuropathy

NCT06325878 | Recruiting

• 1 other identifier: NEU2-OSS-2022-001
• Study Type: interventional
• Target: 3,500
• Locations: 1 country
• Sites: 1

Brief Summary

The objective of this study is to characterize the genetic architecture of a large cohort of CIDP patients to evaluate whether specific alleles/haplotypes are implicated in the risk of CIDP, in its clinical and immunological variability, severity, therapeutic response, and association with diabetes and other autoimmune diseases. We will genotype \>700,000 single nucleotide polymorphisms (SNPs) by using the Illumina Global Screening Array (GSA), of approximately 1000 patients with CIDP. About 3500 healthy controls from the Italian population have been already genotyped using GWAS from our genetic department. Alleles/haplotypes will be also compared between patients with typical CIDP and its variants, between CIDP patients with and without specific antibodies, between CIDP patients with and without comorbidities, between CIDP patients with low and high levels of disability and between CIDP patients with and without response to each individual treatment (IVIg, steroids, plasma exchange)

Conditions

Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Keywords

Chronic Inflammatory Polyradiculoneuropathy; Polyneuropathy, Inflammatory Demyelinating, Chronic; Chronic Inflammatory Demyelinating Polyradiculoneuropathy; cidp

Outcome Measures

Primary Outcomes (1)

• single nucleotide polymorphisms (SNPs)

  Differences in single nucleotide polymorphisms (SNPs) between CIDP patients and controls

  3 years

Study Arms (2)

Chronic inflammatory demyelinating polyneuropathy (CIDP)

EXPERIMENTAL

Single nucleotide polymorphisms (SNPs) of 1000 patients with chronic inflammatory demyelinating polyneuropathy will be genotyped using the Illumina Global Screening Array

Genetic: Genome-wide association study

Control Subjects

EXPERIMENTAL

Single nucleotide polymorphisms (SNPs) of 2500 control subjects without chronic inflammatory demyelinating polyneuropathy will be genotyped using the Illumina Global Screening Array

Genetic: Genome-wide association study

Interventions

Genome-wide association study GENETIC

Alleles/haplotypes evidence through GWAS will be compared between patients with CIDP and control subjects without CIDP

Chronic inflammatory demyelinating polyneuropathy (CIDP); Control Subjects

Eligibility Criteria

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

You may qualify if:

• \- Subject with a documented diagnosis of according to the EAN/PNS criteria

You may not qualify if:

• Subject with an alternative diagnosis for the neuropathy
• Subject without available nerve conduction studies or documented diagnosis of CIDP

Sponsors & Collaborators

• Istituto Clinico Humanitas: lead

Study Sites (1)

IRCCS Istituto Clinico Humanitas

Rozzano, Italy

RECRUITING

MeSH Terms

Conditions

Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Interventions

Genome-Wide Association Study

Condition Hierarchy (Ancestors)

Polyradiculoneuropathy; Autoimmune Diseases of the Nervous System; Nervous System Diseases; Demyelinating Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Autoimmune Diseases; Immune System Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Epidemiologic Research Design; Epidemiologic Methods; Investigative Techniques; Molecular Epidemiology; Genetic Association Studies; Genetic Techniques; Oligonucleotide Array Sequence Analysis; Sequence Analysis; Public Health; Environment and Public Health

Study Officials

• Pietro Emiliano Doneddu, MD

  Humanitas Research Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Pietro Emiliano Emiliano Doneddu, MD

CONTACT

00390282247761; pietro.doneddu@hunimed.eu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 16, 2024
• First Posted: March 22, 2024
• Study Start: November 15, 2022
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: March 26, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)