Biomarkers in Systemic Histiocytosis

NCT07157683 | Not Yet Recruiting

• 1 other identifier: APHP250660
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Systemic Histiocytosis (Disorder)

Keywords

histiocytosis

Outcome Measures

Primary Outcomes (1)

• Identification of new biomarkers involved in histiocytosis

  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),

  10 years

Secondary Outcomes (6)

• Identification of new biomarkers involved in histiocytosis

  10 years

• Identification of new biomarkers involved in histiocytosis

  10 years

• Identification of new biomarkers involved in histiocytosis

  10 years

• Description of the correlation between the identified biomarkers and clinical manifestation of histiocytosis

  10 years

• Description of the correlation between the identified biomarkers and prognosis of histiocytosis

  10 years

Interventions

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"

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult patients with systemic histiocytosis

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Internal Medicine Department 2 at Pitié-Salpêtrière Hospital

Paris, 75013, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

\- 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"

MeSH Terms

Conditions

Histiocytosis

Condition Hierarchy (Ancestors)

Lymphatic Diseases; Hemic and Lymphatic Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 23, 2025
• First Posted: September 5, 2025
• Study Start: October 1, 2025
• Primary Completion (Estimated): October 1, 2040
• Study Completion (Estimated): October 1, 2040
• Last Updated: September 5, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: Beginning 3 months and ending 3 years following article publication. Requests out of these time frame can also be submitted to the sponsor
• Access Criteria: Researchers who provide a methodologically sound proposal.

Locations

FR (1)