GWAS and EWAS in Patients With Erdheim-Chester Disease

Erdheim-Chester Disease Clinical Trial

Official title:

Genome-wide Association Study (GWAS) and Epigenome-wide Association Study (EWAS) in Patients With Erdheim-Chester Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06332183
• Other study ID #: ECDGWAS
• Status: Recruiting
• Start date: July 17, 2019
• Est. completion date: October 1, 2024

Study information

• Verified date: March 2024
• Source: Meyer Children's Hospital IRCCS
• Contact: Augusto Vaglio
• Phone: 3200026532
• Email: augusto.vaglio[@]meyer.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: October 1, 2024
• Est. primary completion date: July 1, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Year to 99 Years

Eligibility

Inclusion Criteria:

• ECD with histological confirmation of disease

Exclusion criteria:

• previously treated patients (for methylation and gene expression)

Related Conditions & MeSH terms

• Erdheim-Chester Disease

Intervention

Genetic:
• 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

Locations

Country	Name	City	State
France	Hopital Pitié Salpetrière	Paris
Italy	Meyer Children's Hospital IRCCS	Florence
Italy	IRCCS Ospedale San Raffaele	Milano
Italy	AOU Parma	Parma
Spain	Genetics Lab, CSIC	Granada

Sponsors (1)

Lead Sponsor	Collaborator
Augusto Vaglio

Countries where clinical trial is conducted

France,  Italy,  Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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