Histiocytosis, Langerhans-CellBIOHISTIONCT06197204
Biomarkers for Diagnostic, Prognostic and of Response to Treatment in Adult Langerhans Cell Histiocytosis
An observational study of Histiocytosis, Langerhans-Cell, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Histiocytosis, Langerhans-Cell
- What is being tested?
- Blood sampling and Biopsy
- How many people
- 570 participants
- Where
- 1 siteFrance
- Study dates
- 25 Mar 2024to 25 Mar 2034
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: All adult patients with LCH seen at the French reference center for histiocytoses. For the study on the diagnostic performance of blood biomarkers for cystic PLCH, a comparative group of patients with diffuse lung cystic diseases, pulmonary emphysema and healthy smokers will be included.
Who may be able to join
- 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
Show all 9Show fewer
- All :
- Signing an informed consent
- Patients with health insurance
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hopital Saint Louis
Paris
Abdellatif Tazi, Pr
About this study
Official title: Biomarqueurs Diagnostiques, Pronostiques et de réponse au Traitement Dans l'Histiocytose Langerhansienne de l'Adulte
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.
Read more
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.
- Conditions
- Histiocytosis, Langerhans-Cell
- Being tested
- Blood sampling, Biopsy
- Medical subject headings
- Histiocytosis, Langerhans-Cell
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood samplingOther
- at first visit in the reference center
- at each follow-up visit ( once a year)
- before and after specific treatment
- in case of flare
BiopsyOther
In case of flare
Blood samplingOther
Once at inclusion visit
| Study group | Role | What they receive |
|---|---|---|
| LCH patients | Not described Receives: Other: Blood sampling; Other: Biopsy | |
| Control group | * diffuse lung cystic disease
* pulmonary emphysema
* healthy smokers Receives: Other: Blood sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Description of the clinical phenotype at diagnosis and the outcome of adult LCH patients
Measured: Up to 10 years
Secondary outcomes (4)
Evaluation of the prognostic performance of blood biomarkers for adult LCH patients
Measured: Up to 10 years
Evaluation of the predictive performance of blood biomarkers for the therapeutic response
Measured: Up to 10 years
Evaluation of the diagnostic performance of blood biomarkers for patients with purely cystic Pulmonary Langerhans cell histiocytosis
Measured: Up to 10 years
Evaluation of the presence of MAPK tissue mutation in plasma cell free DNA for patients with Single System LCH at the time of a flare of the disease
Measured: Up to 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jan 2024
- Study start25 Mar 2024
- Primary completion25 Mar 2034 (estimated)
- Study completion25 Mar 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Histiocytosis, Langerhans-CellStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 570 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06197204
- Sponsor's protocol ID
- APHP230748
- Acronym
- BIOHISTIO
- Status last verified
- Jul 2024
- First submitted
- 26 Dec 2023
- Last updated
- 17 Jul 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 17 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarqueurs Diagnostiques, Pronostiques et de réponse au Traitement Dans l'Histiocytose Langerhansienne de l'Adulte
- ClinicalTrials.gov ID
- NCT06197204
- Acronym / sponsor ID
- BIOHISTIO / APHP230748
- Conditions
- Histiocytosis, Langerhans-Cell
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 570 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 25 Mar 2024 (actual)
- Primary completion
- 25 Mar 2034 (estimated)
- Study completion
- 25 Mar 2034 (estimated)
- First posted
- 9 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| LCH patients | – | Other: Blood sampling, Other: Biopsy |
| Control group | – | Other: Blood sampling* diffuse lung cystic disease * pulmonary emphysema * healthy smokers |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- All adult patients with LCH seen at the French reference center for histiocytoses. For the study on the diagnostic performance of blood biomarkers for cystic PLCH, a comparative group of patients with diffuse lung cystic diseases, pulmonary emphysema and healthy smokers will be included.
Key inclusion criteria (9 listed)
- Age ≥ 18 years
- All confirmed LCH seen at the reference center whatever the clinical presentation
- Age ≥ 18 years
- Patients with diffuse lung cystic disease, pulmonary emphysema and healthy smokers
- Signing an informed consent
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sampling* at first visit in the reference center * at each follow-up visit ( once a year) * before and after specific treatment * in case of flare | Other | LCH patients |
| BiopsyIn case of flare | Other | LCH patients |
| Blood samplingOnce at inclusion visit | Other | Control group |
Primary outcome
Description of the clinical phenotype at diagnosis and the outcome of adult LCH patients
Time frame: Up to 10 years
4 secondary outcomes
Evaluation of the prognostic performance of blood biomarkers for adult LCH patients
Time frame: Up to 10 years
Evaluation of the predictive performance of blood biomarkers for the therapeutic response
Time frame: Up to 10 years
Evaluation of the diagnostic performance of blood biomarkers for patients with purely cystic Pulmonary Langerhans cell histiocytosis
Time frame: Up to 10 years
Evaluation of the presence of MAPK tissue mutation in plasma cell free DNA for patients with Single System LCH at the time of a flare of the disease
Time frame: Up to 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Jul 2024.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Histiocytosis, Langerhans-Cell, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 17 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Abdellatif Tazi, Pr (+33142499618, abdellatif.tazi@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Description of the clinical phenotype at diagnosis and the outcome of adult LCH patients (time frame: Up to 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Jul 2024.