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Набор скоро начнётся NCT07157683

Biomarkers in Systemic Histiocytosis

— Наблюдательное Systemic Histiocytosis (Disorder)

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают
В протоколе указаны: Biospecimen collection.
Кому может быть актуально
Состояния в реестре: Systemic Histiocytosis (Disorder). Базовые параметры: от 18 лет · Все.
Что важно проверить
Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится
Франция
Следующий шаг
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Обзор

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.

Подробное описание

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).

Вмешательства

  • Другое 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"

Первичные конечные точки

  • Identification of new biomarkers involved in histiocytosis [Срок оценки: 10 years]
Вторичные конечные точки (6)
  • Identification of new biomarkers involved in histiocytosis [Срок оценки: 10 years]
  • Identification of new biomarkers involved in histiocytosis [Срок оценки: 10 years]
  • Identification of new biomarkers involved in histiocytosis [Срок оценки: 10 years]
  • Description of the correlation between the identified biomarkers and clinical manifestation of histiocytosis [Срок оценки: 10 years]
  • Description of the correlation between the identified biomarkers and prognosis of histiocytosis [Срок оценки: 10 years]
  • Description of the correlation between the identified biomarkers and response to treatment [Срок оценки: 10 years]

Критерии участия

Критерии включения

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

Критерии исключения

  • 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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Когортное

Центры проведения

Франция · 1 центр
  • Internal Medicine Department 2 at Pitié-Salpêtrière Hospital — Paris

Идентификаторы

NCT: NCT07157683 · APHP250660

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗