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NCT Number: NCT07157683

Biomarkers in Systemic Histiocytosis

Systemic histiocytoses in adults (Langerhans cell histiocytosis, Erdheim-Chester disease, and Rosai-Dorfman disease) are rare inflammatory disorders in which recent discoveries have identified a clonal origin, with activating mutations in the MAP kinase pathway, enabling access to targeted therapies. However, the mechanism by which these mutations induce an inflammatory profile in tissue histiocytes remains largely unknown.

Despite these advances, there is a clear need to refine diagnostic and prognostic classification, to identify the biological mechanisms involved in the onset and progression of these diseases, to develop new targeted strategies, and to establish minimally invasive monitoring methods (liquid biopsies).

This project aims to make a decisive contribution toward these goals.

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Key information

Conditions

Systemic Histiocytosis (Disorder) Hemic and Lymphatic Diseases Histiocytosis Lymphatic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

Systemic histiocytoses are rare diseases with a clinical spectrum ranging from mild forms to severe, life-threatening multi-organ involvement. Numerous recent studies have identified somatic mutations in the MAP kinase pathway in tissue-infiltrating histiocytes, providing a better understanding of the disease pathophysiology and enabling access to more effective targeted therapies. However, due to the extreme rarity of these diseases, many unknowns remain.

These mutations do not appear to induce a proliferative oncogenic process, as seen in cancers where similar mutations have been identified. Instead, they seem to trigger a pro-inflammatory and pro-fibrotic immune response, ultimately leading to organ damage. The immune mechanisms induced by these mutations in histiocytes remain unexplored.

There are also currently no reliable data to accurately predict disease progression, including survival, treatment response, remission, or organ involvement.

It is therefore essential to establish patient cohorts to improve disease understanding and to identify effective diagnostic, prognostic, and predictive biomarkers-whether for standard treatment response or as potential theranostic markers (actionable by a specific treatment).

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Age ≥ 18 years
  • Patient followed for systemic histiocytosis in Internal Medicine Department 2 at Pitié-Salpêtrière Hospital
  • Non-opposition to participation in the study

Exclusion criteria

  • Pregnant or breastfeeding women
  • Patients without French social security or covered by State Medical Aid (AME)
  • Patients deprived of liberty by judicial or administrative decision, or under legal protection

Treatment and study plan

Biospecimen Collection

Other

If a blood sample is drawn as part of standard care, up to six additional EDTA tubes (42 mL max) will be collected for research.

In addition, the following optional samples may be collected, depending on investigator assessment and/or patient preference:

  • Saliva sample (if no blood draw is performed)
  • Urine sample
  • Stool sample"

Primary outcomes

  1. Identification of new biomarkers involved in histiocytosis

    Time frame: 10 years

    Plasma concentrations of several cytokines and chemokines involved in inflammation and fibrosis will be assessed using ELISA and Luminex assays (CSF, EGF, GM-CSF, FGF-basic, IFN-α, MCP-1, HGF, IFN-γ, MIG, VEGF, IL-1β, MIP-1α, IL-1RA, MIP-1β, IL-2, RANTES, IL-2R, IL-4, IL-5, IL-6, IL-7, IL-8, IL-10, IL-12 (p40/p70), IL-13, IL-15, IL-17, TNF-α, and Eotaxin),

Secondary outcomes

  1. Identification of new biomarkers involved in histiocytosis

    Time frame: 10 years

    using targeted transcriptomic profiling: total RNAseq using the Human Immunology v2 panel (Nanostring, 594 genes),

  2. Identification of new biomarkers involved in histiocytosis

    Time frame: 10 years

    using single-cell RNA sequencing

  3. Identification of new biomarkers involved in histiocytosis

    Time frame: 10 years

    using flow cytometry and mass cytometry analyses of 37 immune cell subsets using a dedicated 30-marker panel.

  4. Description of the correlation between the identified biomarkers and clinical manifestation of histiocytosis

    Time frame: 10 years

  5. Description of the correlation between the identified biomarkers and prognosis of histiocytosis

    Time frame: 10 years

    like mortality, or organ damage

  6. Description of the correlation between the identified biomarkers and response to treatment

    Time frame: 10 years

    complete response, partial response, stable disease, disease progression

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Acronym: Bio-Histio

Important dates

Study start
2025
Primary completion
2040
Study completion
2040
First posted
Sep 5, 2025
Registry last updated
Sep 5, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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