Ignite Creation Date:
2025-12-26 @ 10:57 AM
Ignite Modification Date:
2026-02-25 @ 8:47 PM
Study NCT ID:
NCT04100408
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-03-21
First Post:
2019-09-20
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Inherited Genetic Susceptibility in Langerhans Cell Histiocytosis (LCH)
Sponsor:
Children's Oncology Group
Organization:
Study Overview
Official Title:
Inherited Genetic Susceptibility in Langerhans Cell Histiocytosis (LCH)
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2025-03
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:
The long-term goal is to define the mechanisms of pathogenesis underlying Langerhans cell histiocytosis (LCH). The overall objectives of the current study are to characterize the role of SMAD6 inherited genetic variation on LCH susceptibility and identify germline genomic regions associated with LCH somatic mutations. Building from preliminary data, the central hypotheses are: (1) causal genetic variants in SMAD6 underlie susceptibility to LCH, and (2) differences in LCH-related somatic activating mutations by race/ethnicity are related to Amerindian (i.e., Native American) genetic ancestry. The Central hypothesis will be tested by pursuing the specific aims.
Detailed Description:
PRIMARY OBJECTIVES:
I. To comprehensively characterize germline variants in SMAD6 and their association with LCH.
II. To identify novel germline variants associated with LCH.
III.To determine the role of genetic ancestry on LCH-related somatic mutations.
EXPLORATORY OBJECTIVES:
I. To integrate clinical and epidemiologic questionnaire data with genetic risk factor data from the Primary Aims to more comprehensively elucidate LCH susceptibility.
OUTLINE:
Case identification and recruitment followed by questionnaires and specimen processing.
I. To comprehensively characterize germline variants in SMAD6 and their association with LCH.
II. To identify novel germline variants associated with LCH.
III.To determine the role of genetic ancestry on LCH-related somatic mutations.
EXPLORATORY OBJECTIVES:
I. To integrate clinical and epidemiologic questionnaire data with genetic risk factor data from the Primary Aims to more comprehensively elucidate LCH susceptibility.
OUTLINE:
Case identification and recruitment followed by questionnaires and specimen processing.
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?: