Ignite Creation Date:
2024-05-06 @ 8:16 PM
Last Modification Date:
2024-10-26 @ 3:24 PM
Study NCT ID:
NCT06317246
Status:
RECRUITING
Last Update Posted:
2024-03-19
First Post:
2024-02-21
Brief Title:
Subtypes and Prognostic Factors in Erdheim-Chester Disease
Sponsor:
Meyer Childrens Hospital IRCCS
Organization:
Meyer Childrens Hospital IRCCS
Study Overview
Official Title:
Subtypes and Prognostic Factors in 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 pathology are still unknown Although the disease typically affects adult individuals cases of pediatric-onset ECD have been described However there is a lack of detailed information on the phenotypic characteristics of these patients and reliable data on response to specific therapies and long-term outcomes are missing Three patients referred to our reference center for Histiocytosis present a concomitant BRAF-mutated neoplasm Such an association could be due to the presence of mosaicisms for the BRAF V600E mutation Mosaicism is a biological event defined as the presence of more than one genetically dissimilar cell population in the same organism and is an increasingly studied field both in normal and pathological conditions If proven in ECD as well this mechanism could contribute to providing answers to the still open questions regarding the development of this disease
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?:
None
Is an FDA AA801 Violation?:
None