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Biomarkers in Systemic Histiocytosis
Sponsor: Assistance Publique - Hôpitaux de Paris
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.
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
500
Start Date
2025-10-01
Completion Date
2040-10-01
Last Updated
2025-09-05
Healthy Volunteers
No
Conditions
Interventions
Biospecimen collection
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"
Locations (1)
Internal Medicine Department 2 at Pitié-Salpêtrière Hospital
Paris, France