NCT04100408

Inherited Genetic Susceptibility in Langerhans Cell Histiocytosis (LCH)

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 647 (estimated)
• Sponsor: Children's Oncology Group · Network
• Sex: All
• Age: 25 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Histiocytosis, Langerhans-Cell

Interventions

Type	Name	Description
OTHER	Biospecimen Collection	Undergo saliva or buccal mucosa collection
OTHER	Laboratory Biomarker Analysis	Correlative studies
OTHER	Questionnaire Administration	Ancillary studies

Timeline

• Start date: 2020-06-01
• Primary completion: 2026-09-30
• Completion: 2026-09-30
• First posted: 2019-09-24
• Last updated: 2026-01-09

Locations

1 site across 1 country: United States