GWAS and EWAS in Patients With Erdheim-Chester Disease

March 18, 2024 updated by: Augusto Vaglio

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Paris, France
        • Recruiting
        • Hôpital Pitié Salpêtrière
        • Contact:
          • Julien Haroche
  • Italy
      • Florence, Italy
      • Milano, Italy
        • Recruiting
        • IRCCS Ospedale San Raffaele
        • Contact:
          • Lorenzo Dagna
      • Parma, Italy
        • Recruiting
        • AOU Parma
        • Contact:
          • Davide Martorana
  • Spain
      • Granada, Spain
        • Recruiting
        • Genetics Lab, CSIC
        • Contact:
          • Javier Martin

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Incident and prevalent patients with ECD

Description

Inclusion Criteria:

- ECD with histological confirmation of disease

Exclusion criteria:

- previously treated patients (for methylation and gene expression)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
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
Statistical analysis of GWAS data, Genome-wide methylation pattern analysis, Integration of GWAS data and methylation data (meQTL analysis), Pathway enrichment analysis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Polymorphisms and genetic variants correlated with disease development
Time Frame: 5 years
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
Time Frame: 5 years
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
Time Frame: 5 years
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Augusto Vaglio

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 17, 2019

Primary Completion (Estimated)

July 1, 2024

Study Completion (Estimated)

October 1, 2024

Study Registration Dates

First Submitted

February 21, 2024

First Submitted That Met QC Criteria

March 18, 2024

First Posted (Actual)

March 27, 2024

Study Record Updates

Last Update Posted (Actual)

March 27, 2024

Last Update Submitted That Met QC Criteria

March 18, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ECDGWAS

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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