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Gene hunt: can DNA explain a rare childhood disease?

NCT ID NCT04100408

Knowledge-focused Sponsor: Children's Oncology Group Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 647 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jun 2020

Expected to finish

Sep 2026

An estimate. End dates often move.

Lead sponsor

A research network

The lead sponsor is a research network or cooperative group.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients diagnosed with Langerhans cell histiocytosis (LCH) on or after January 1, 2008.

Ages

Up to 25 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * ≤ 25 years old at the time of original LCH diagnosis * The patient must be enrolled on ACCRN07 and/or APEC14B1 and registered with COG by a North American member institution * The patient must have a diagnosis of LCH (ICD Codes/Morphology: 9751/1; 9752/1; 9753/1; or 9754/3). * The patient must be diagnosed with LCH on or after January 1, 2008. * All questionnaire respondents must understand English or Spanish. * All patients and/or their parents or legal guardians must provide informed consent. * All institutional, FDA, and NCI requirements for human studies must be met.

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Conditions

The condition(s) this trial relates to.

Histiocytosis, Langerhans-Cell Langerhans cell histiocytosis

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Histiocytosis, langerhans-cell

Contacts and locations

Locations

  • Baylor College of Medicine/Dan L Duncan Comprehensive Cancer Center

    Houston, Texas, 77030, United States