Gene hunt: can DNA explain a rare childhood disease?
NCT ID NCT04100408
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 2 times
Summary
This study investigates how inherited genetic variations, especially in the SMAD6 gene, influence a person's risk of developing Langerhans cell histiocytosis (LCH), a rare disease where immune cells build up in tissues. Researchers will collect saliva or cheek swabs from 647 children and young adults (up to age 25) diagnosed with LCH, along with their parents, to analyze DNA. The goal is to understand why some people get LCH and how ancestry affects the specific genetic changes in the disease.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- If successful, this could reveal why some people develop LCH and how ancestry influences the disease, pointing toward better risk assessment or future treatments.
- What could go wrong
- This is an observational study, not a treatment trial. It may not directly lead to new therapies, and findings might not apply to all patients.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Baylor College of Medicine/Dan L Duncan Comprehensive Cancer Center
Houston, Texas, 77030, United States