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GWAS and EWAS in Patients With Erdheim-Chester Disease

NCT06332183 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 300

Last updated 2024-03-27

No results posted yet for this study

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

Interventions

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

Sponsors & Collaborators

  • Augusto Vaglio

    lead OTHER

Eligibility

Min Age
1 Year
Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-07-17
Primary Completion
2024-07-01
Completion
2024-10-01

Countries

  • France
  • Italy
  • Spain

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06332183 on ClinicalTrials.gov