GWAS and EWAS in Patients With Erdheim-Chester Disease

Augusto Vaglio

Status: Enrolling

Conditions: Erdheim-Chester Disease

Treatments: Genetic: Presence of polymorphisms

Study type: Observational

Funder types: Other

Identifiers

NCT06332183

ECDGWAS

Details and patient eligibility

About

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.

Enrollment: 300 estimated patients

Sex: All

Ages: 1 to 99 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• ECD with histological confirmation of disease

Exclusion criteria

• previously treated patients (for methylation and gene expression)

Trial design

300 participants in 1 patient group

Presence of polymorphisms

Description:

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

Treatment:

Genetic: Presence of polymorphisms