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

Recruitingn/aAges 18 Years - anyAllAssistance Publique - Hôpitaux de Paris
NCT06197204 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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

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📋 Eligibility rules (as published)
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
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What it tests

  • Blood sampling
  • Biopsy
  • Blood sampling
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Where

1 site
Hopital Saint Louis
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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