Ignite Creation Date:
2024-05-06 @ 8:18 PM
Last Modification Date:
2024-10-26 @ 3:25 PM
Study NCT ID:
NCT06332183
Status:
RECRUITING
Last Update Posted:
2024-03-27
First Post:
2024-02-21
Brief Title:
GWAS and EWAS in Patients With Erdheim-Chester Disease
Sponsor:
Augusto Vaglio
Organization:
Meyer Childrens Hospital IRCCS
Study Overview
Official Title:
Genome-wide Association Study GWAS and Epigenome-wide Association Study EWAS in Patients With Erdheim-Chester Disease
Status:
RECRUITING
Status Verified Date:
2024-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
False
Is an FDA AA801 Violation?:
None