Erdheim-Chester Disease
Conditions
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.
Interventions
GENETICPresence 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
Augusto Vaglio
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Years to 99 Years
Healthy volunteers
No
Inclusion criteria
\- ECD with histological confirmation of disease
Exclusion criteria
\- previously treated patients (for methylation and gene expression)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Polymorphisms and genetic variants correlated with disease development | 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 |
| Methylation in Erdheim-Chester disease | 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 |
| Gene expression in Erdheim-Chester disease | 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) |
Countries
France, Italy, Spain
Contacts
Primary ContactAugusto Vaglio
Outcome results
None listed