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Идёт набор NCT06857604

The Interplay Between Inborn Error of Immunity and Blood Disorders: Unravelling Immune Defects Behind Common Haematological Diseases

Без фазы С лечением Hematologic Diseases

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: Biological samples.
Кому может быть актуально
Состояния в реестре: Hematologic Diseases. Базовые параметры: до 25 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
Канада, Франция, Италия, Испания, Швеция
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Обзор

The universe of Inborn errors of Immunity (IEI) is rapidly expanding: their clinical spectrum is not only characterised by infections but often includes haematological complications. Moreover, an increasing number of "IEI phenocopies" due to somatic mutations in specific cell types are progressively being unveiled and complicate the genetic plot of IEI, which are therefore not only caused by germline mutations. However, these aspects have never been studied by large prospective studies. This study aims to fill this gap by prospectively recruiting patients \<25 y/o with haematologic disorders that fall into one of the following 4 subgroups: autoimmune cytopenia (AICs), polyclonal lymphoproliferation (PL), monoclonal (malignant) lymphoproliferation (ML), bone marrow failure/myelodysplasia (BMF/MDS). Recruited subjects will undergo an extensive immunologic workup (extended immunophenotyping, cytokine and autoantibody dosage) together with genetic testing (NGS) to detect both germline and somatic variants. Bulk RNA sequencing will be performed either as functional validation of variants or to identify altered pathways in selected cases with inconclusive genetics. Patient advocacy organisations (PAOs) will be pivotal to assist patients' needs throughout the project and to raise awareness of predictive and yet unknown signs of IEI. The study involves recruitment a total of almost 700 children over a 3-year period. Considering recent studies on AICs and BMF/MDS, a global detection rate of 30% "hidden" IEI is expected, with higher rates in the AIC subgroup and lower ones for ML, given the complexity of lymphoma pathogenesis. New IEI candidate genes or new examples of IEI phenocopies are expected to be identified. The immunological workup should detect early disease biomarkers or currently unknown molecular signatures of specific disorders. These may increase the chance of identifying an IEI in a specific subgroup and promptly address the patient to a targeted treatment or to hematopoietic stem cell transplantation, avoiding late complications, increasing patients' survival, and abating the economic burden of the disease on healthcare services. Finally, involvement of PAOs may foster patients' knowledge about their condition, increasing their compliance to disease follow-up and treatment and ameliorating their quality of life.

Вмешательства

  • Другое Biological samples
    Immunological Screening and Genetic analysis

Первичные конечные точки

  • Number of children and young adults with blood disorders with new or known germline and somatic mutations that cause or modify disease, either in the lymphoid or myeloid compartments. [Срок оценки: From enrollment to the end of analysis (36 months)]
Вторичные конечные точки (1)
  • Percentage of pediatric and adolescent-young adult patients with hematologic disorders with altered immunological profiles [Срок оценки: From enrollment to the end of analysis (36 months)]

Критерии участия

Критерии включения

  • Patients age < 25 years
  • Patients with diagnosed autoimmune cytopenias (AIC), polyclonal lymphoproliferation (PL), lymphoma (ML), bone marrow failure, and myelodysplastic syndrome (BMF/MDS) (see details below)
  • Signed Informed Consent

Критерии исключения

  • Patients with Lymphoma secondary to HIV or transplant
  • Patient with self-resolving or post-infective AICs

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

Здоровые добровольцы: Нет

Дизайн исследования

Распределение
Не применимо
Модель
Одна группа
Маскирование
Открытое
Основная цель
Диагностика

Центры проведения

Канада · 2 центра
  • CHU Sainte-Justine — Montreal
  • CHU Sainte-Justine — Montreal
Италия · 2 центра
  • Meyer Children's Hospital IRCCS, Firenze — Florence
  • University of Rome Tor Vergata — Rome
Франция · 1 центр
  • Institut Imagine — Paris
Испания · 1 центр
  • Vall d'Hebron Institut de Recerca — Barcelona
Швеция · 1 центр
  • Karolinska Institutet — Stockholm

Идентификаторы

NCT: NCT06857604 · IEI-Haem

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗