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Inherited Genetic Susceptibility in Langerhans Cell Histiocytosis (LCH)
Sponsor: Children's Oncology Group
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.
Key Details
Gender
All
Age Range
Any - 25 Years
Study Type
OBSERVATIONAL
Enrollment
647
Start Date
2020-06-01
Completion Date
2026-09-30
Last Updated
2026-01-09
Healthy Volunteers
No
Conditions
Interventions
Biospecimen Collection
Undergo saliva or buccal mucosa collection
Laboratory Biomarker Analysis
Correlative studies
Questionnaire Administration
Ancillary studies
Locations (1)
Baylor College of Medicine/Dan L Duncan Comprehensive Cancer Center
Houston, Texas, United States