GWAS and EWAS in Patients With Erdheim-Chester Disease

NCT06332183 | Recruiting

• 1 other identifier: ECDGWAS
• Study Type: observational
• Target: 300
• Locations: 3 countries
• Sites: 5

Brief Summary

Erdheim-Chester Disease (ECD) is a rare form of histiocytosis characterized by the proliferation of blood cells, known as histiocytes, which infiltrate various organs and tissues, often causing irreversible damage. The causes of the condition are still unknown, and although some mutations in genes involved in cell proliferation have been identified, other factors may be involved. Susceptibility to developing rare diseases like ECD is typically associated with genetic factors, including DNA polymorphisms and epigenetic modifications. This study aims to analyze the entire genome of a large cohort of patients with ECD and healthy controls to determine whether there are polymorphisms and epigenetic variants associated with susceptibility to developing the disease. The study could thus clarify the genetic predisposition to ECD development, provide insights into disease pathogenic mechanisms, and identify proteins or cellular mechanisms potentially targeted by specific treatments.

Conditions

Erdheim-Chester Disease

Outcome Measures

Primary Outcomes (3)

• Polymorphisms and genetic variants correlated with disease development

  To investigate the presence of polymorphisms and genetic variants correlated with disease development, through a GWAS study. This task will be carried out by analyzing the frequency of the identified polymorphisms in patients and controls

  5 years

• Methylation in Erdheim-Chester disease

  To identify differences in gene methylation between patients with ECD and healthy controls, through an EWAS study. This task will be carried out by analyzing the grade of methylation in patients and controls

  5 years

• Gene expression in Erdheim-Chester disease

  To investigate the correlation between genetic variants or epigenetic profiles associated with the disease (previous outcomes) and specific clinical manifestations (organ involvement, somatic mutations, response to treatment, survival)

  5 years

Study Arms (1)

Presence of polymorphisms

Statistical analysis of GWAS data, Genome-wide methylation pattern analysis, Integration of GWAS data and methylation data (meQTL analysis), Pathway enrichment analysis

Genetic: Presence of polymorphisms

Interventions

Presence of polymorphisms GENETIC

Statistical analysis of GWAS data, Genome-wide methylation pattern analysis, Integration of GWAS data and methylation data (meQTL analysis), Pathway enrichment analysis

Presence of polymorphisms

Eligibility Criteria

• Age: 1 Year - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Incident and prevalent patients with ECD

You may qualify if:

• \- ECD with histological confirmation of disease

You may not qualify if:

• \- previously treated patients (for methylation and gene expression)

Sponsors & Collaborators

• Augusto Vaglio: lead

Study Sites (5)

Hopital Pitié Salpetrière

Paris, France

RECRUITING

Meyer Children's Hospital IRCCS

Florence, Italy

RECRUITING

IRCCS Ospedale San Raffaele

Milan, Italy

RECRUITING

AOU Parma

Parma, Italy

RECRUITING

Genetics Lab, CSIC

Granada, Spain

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

blood

MeSH Terms

Conditions

Erdheim-Chester Disease

Condition Hierarchy (Ancestors)

Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases

Central Study Contacts

Augusto Vaglio

CONTACT

3200026532; augusto.vaglio@meyer.it

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Associate Professor of Nephrology, Principal Investigator

Study Record Dates

• First Submitted: February 21, 2024
• First Posted: March 27, 2024
• Study Start: July 17, 2019
• Primary Completion: July 1, 2024
• Study Completion: October 1, 2024
• Last Updated: March 27, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1); IT (3); ES (1)