ClinicalTrials.gov record NCT06197204

Biomarkers for Diagnostic, Prognostic and of Response to Treatment in Adult Langerhans Cell Histiocytosis

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Biomarqueurs Diagnostiques, Pronostiques et de réponse au Traitement Dans l'Histiocytose Langerhansienne de l'Adulte

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.The registry record was last updated on Jul 17, 2024, about 2 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
Age18 years old and older
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a prospective observational study of adults with Langerhans cell histiocytosis (LCH). It will collect clinical data and blood samples over time (up to 10 years) to describe the disease course and to look for blood biomarkers linked to diagnosis, prognosis, or response to treatment. The study also compares blood markers in patients with cystic lung disease to controls (diffuse cystic lung disease, pulmonary emphysema, and healthy smokers). Some participants may also have tissue biopsies if clinically indicated (for example at disease flare).

What it is studying. The study is testing whether blood biomarkers, including detection of MAPK pathway mutations in plasma cell‑free DNA, can help diagnose cystic pulmonary LCH, predict prognosis, or predict response to specific treatments in adults with LCH.

What the researchers hope to learn. Describe the clinical features and long-term outcomes of adult LCH; identify blood biomarkers that have diagnostic value for cystic pulmonary LCH; evaluate biomarkers for prognostic information and for predicting treatment response; assess whether MAPK driver mutations found in tissue can be detected in plasma cell‑free DNA during flares.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Adult Langerhans histiocytosis (LCH) is a rare disease of unknown etiology, characterized by the activation of the MAPK (Mitogen-activated protein kinases) pathway, driven by various somatic mutations in the specific lesions of involved organs/tissues. LCH is currently classified as myeloid neoplasia with an inflammatory component. In patients with active systemic LCH, MAPK mutations may also be identified in plasma free cell DNA in patients. In contrast, circulating MAPK mutations seem more rarely detected in patients with LCH limited to a single organ/tissue (single system disease), but this has not been accurately assessed in a large series of patients. The clinical presentation of LCH is very diverse, the prognosis variable, and the evolution marked by the occurrence of flares of the disease. A definitive diagnosis of LCH warrants histological confirmation obtained by a biopsy of an involved organ. In case of Pulmonary Langerhans cell histiocytosis (PLCH), a presumptive diagnosis is often acceptable when lung-computed tomography (CT) shows a nodulo-cystic pattern after excluding alternative diagnoses. In contrast, in case of purely cystic lung CT pattern, PLCH may be difficult to differentiate from other diffuse cystic lung diseases (mainly lymphangioléiomyomatose (LAM) and BHD (Birt-Hogg-Dubé syndrom), and eventually other rare disorders). Advanced PLCH may even be misdiagnosed as pulmonary emphysema that also occurs in smokers. In these situations, confirmation of PLCH warrants lung tissue, obtained most often by surgical lung biopsy that comprises significant morbidity or is not feasible in patients with altered lung function. Thus, the identification of specific blood biomarkers of cystic PLCH would be very useful. On another hand, personalized management of adult patients with LCH is limited given the absence of predictive factors for prognosis or response to treatment. The aim of this prospective study is to describe precisely the clinical phenotype at diagnosis and during follow-up of a large cohort of adult LCH patients and to seek for blood biomarkers eventually associated with prognosis or response to specific treatment. For patients with cystic PLCH specific markers for non-invasive diagnosis will also be investigated. In the subgroup of patients with Single system (SS) LCH and specific driver MAPK mutation in tissue lesions, we will also look for the identification of this mutation in plasma free DNA at the time of a flare of the disease.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • Blood sampling
  • Biopsy

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • LCH patients :
  • Age ≥ 18 years
  • All confirmed LCH seen at the reference center whatever the clinical presentation
  • Controls :
  • Age ≥ 18 years
  • Patients with diffuse lung cystic disease, pulmonary emphysema and healthy smokers
  • All :
  • Signing an informed consent
  • Patients with health insurance

Exclusion criteria

  • Persons under guardianship or curatorship, or deprived of freedom by a judicial or administrative decision.
  • People benefiting from Medical Aid from the State (AME)
  • Pregnant women, parturient and mothers who are breastfeeding.
  • Persons subject to psychiatric care and persons admitted to a health or social establishment for purposes other than research
  • Persons unable to express their consent

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

LCH participants will give blood samples at the first visit, roughly once a year at follow-up, before and after specific treatments, and during disease flares; control participants give one blood sample at inclusion. In case of a flare, LCH patients may also have a biopsy (tissue sample), which is an invasive procedure. Blood and tissue samples will be used to search for diagnostic and prognostic biomarkers, including analysis of plasma cell‑free DNA for MAPK mutations as described in the registry. Participants may be followed and asked for repeat visits and samples over a period reported up to 10 years.

How the study is structured. A prospective observational cohort. Adults with LCH are followed and give blood at the first visit, yearly, before and after specific treatments, and at disease flares; tissue biopsy may be obtained in some cases. A control group (people with diffuse cystic lung disease, pulmonary emphysema, and healthy smokers) gives a single blood sample. Outcomes are tracked for up to 10 years. No experimental treatment is assigned.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Langerhans cell histiocytosis

Clinical trials20 trials listed for Langerhans cell histiocytosisEvery trial the registry lists for Langerhans cell histiocytosis, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Langerhans cell histiocytosis researchLatest monthly update: September 2026. Includes: Adult routine care. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Mar 25, 2024
Primary completion
Mar 25, 2034 (estimated)
Study completion
Mar 25, 2034 (estimated)
Target enrollment
570 participants (estimated)
Last updated on registry
Jul 17, 2024
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Assistance Publique - Hôpitaux de Paris

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

  • Hopital Saint LouisRecruiting

    Paris · France

    • Abdellatif Tazi, Pr

Terms used on this page · explanations by MedicalUpdates.ai

biopsy
Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
computed tomography
An X-ray scan that builds detailed cross-section images of the body. 'High-resolution' CT (HRCT) is used to look closely at the lungs.
biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
cohort
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

← Back to clinical trials