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.
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Characterized germline variants in SMAD6 and their association with Langerhans Cell Histiocytosis (LCH)
Timeframe: Up to 4 years
The frequency of de novo mutations and systematic assessment of the underlying genetic makeup of LCH
Timeframe: Up to 4 years
The difference in LCH-related somatic mutations by race/ethnicity due to underlying genetic ancestry
Timeframe: Up to 4 years