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Inherited Genetic Susceptibility in Langerhans Cell Histiocytosis (LCH)

NCT04100408 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 647

Last updated 2026-01-09

No results posted yet for this study

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.

Conditions

  • Histiocytosis, Langerhans-Cell

Interventions

OTHER

Laboratory Biomarker Analysis

Correlative studies

OTHER

Questionnaire Administration

Ancillary studies

OTHER

Biospecimen Collection

Undergo saliva or buccal mucosa collection

Sponsors & Collaborators

  • Children's Oncology Group

    lead NETWORK

Principal Investigators

  • Michael Scheurer, PhD · Children's Oncology Group

Eligibility

Max Age
25 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-06-01
Primary Completion
2026-09-30
Completion
2026-09-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04100408 on ClinicalTrials.gov