Clinical trial NCT06332196: Immunodeficiency and Cancer: Identification of Congenital Immune System Defects Underlying Paediatric Lymphomas
Official title: Immunodeficiency and Cancer: Identification of Congenital Immune System Defects Underlying Paediatric Lymphomas
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Immune Deficiency
Lead sponsor: Meyer Children's Hospital IRCCS
Sponsor class: OTHER
First posted: 2024-03-27
Enrollment: 50
Sex: ALL
Minimum age (years): 1
Maximum age (years): 24
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Patients diagnosed with non-Hodgkin's lymphoma (NHL) or Hodgkin's lymphoma (HL) aged and patients with previous lymphoma and signs of immunodeficiency
Primary purpose: DIAGNOSTIC

Brief summary: Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterised not only by an infectious diathesis, but by a wide variety of other clinical manifestations. Lymphoma is one of the most common malignancies in children and may be the first clinical manifestation of IEI, thereby 'hiding' the immune defect and delaying genetic/immunological diagnosis. Lymphomas, especially non-Hodgkin's lymphomas (NHL) are frequently associated with congenital defects of the immune system, in particular diffuse large B-cell lymphoma and Burkitt's lymphoma. Preliminary analyses conducted on 6 patients diagnosed with NHL allowed the identification of genetic variants in genes associated with IEI. In clinical practice, the diagnosis and choice of therapeutic treatment in patients with immunodeficiency-associated lymphoma are decisive and, due to the complex pathophysiology of the disease, it is not always possible to identify the boundary between benign and malignant proliferation. The identification of an undiagnosed immunodeficiency in patients with lymphoma will ensure the opportunity to apply targeted therapies, such as allogeneic haematopoietic stem cell transplantation, instead of standard clinical management based mainly on chemotherapy. The study aims to identify possible congenital defects of immunity, i.e. genetic disorders affecting the immune system, as responsible for the development of haematological malignancies. Through a multidisciplinary approach involving immunological analyses, genetic analyses and a thorough examination of clinical manifestations, we aim to characterise the immunological component underlying the development of paediatric lymphomas.


Eligibility criteria: Inclusion Criteria:

* Patients with a clinical diagnosis of Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL) with or without signs of immune dysregulation (lymphoproliferation, autoimmunity, hypogammaglobulinaemia, family history of immunodeficiency).
* Patients with previous HL or NEIL lymphoma who have developed, concomitantly with the tumour or subsequently, clinical manifestations mentioned above attributable to a congenital defect of immunity.

Exclusion Criteria:

* Patients with known genetic diseases, or who do not consent to participate in the study

Primary outcomes:
measure: To unravel inborn error of immunity behind Lymphoid neoplasm in children
timeFrame: Through study completion, an average of 1 year
Secondary outcomes:
measure: Identification of lymphoma-specific biomarkers
timeFrame: Through study completion, an average of 1 year
Other outcomes:
Locations:
city: Bologna
country: Italy
facility: AOU Malpighi IRCCS
city: Florence
country: Italy
facility: Meyer Children's Hospital IRCCS
city: Pisa
country: Italy
facility: AOU Pisana
city: Roma
country: Italy
facility: Ospedale Pediatrico Bambin Gesù IRCCS
Study officials:
affiliation: Meyer Children's Hospital IRCCS
name: Eleonora Gambineri
role: PRINCIPAL_INVESTIGATOR
References: