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.
Disclaimer
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the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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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
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Locations
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Baylor College of Medicine/Dan L Duncan Comprehensive Cancer Center
Houston, Texas, 77030, United States