Immunodeficiency and Cancer: Identification of Congenital Immune System Defects Underlying Paediatric Lymphomas

Trial Title: Immunodeficiency and Cancer: Identification of Congenital Immune System Defects Underlying Paediatric Lymphomas

NCT ID: NCT06332196

Condition: Immune Deficiency

Conditions: Official terms:
Immunologic Deficiency Syndromes

Study type: Interventional

Study phase: N/A

Overall status: Recruiting

Study design:

Allocation: N/A

Intervention model: Single Group Assignment

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

Masking: None (Open Label)

Intervention:

Intervention type: Other
Intervention name: Analysis of biological sample and clinical data
Description: Analysis of biological sample and clinical data
Arm group label: Patient with Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL)

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.

Criteria for 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

Gender: All

Minimum age: 1 Day

Maximum age: 24 Years

Healthy volunteers: No

Locations:

Facility:
Name: AOU Malpighi IRCCS

Address:
City: Bologna
Country: Italy

Status: Active, not recruiting

Facility:
Name: Meyer Children's Hospital IRCCS

Address:
City: Florence
Country: Italy

Status: Recruiting

Contact:
Last name: Eleonora Gambineri
Email: eleonora.gambineri@meyer.it

Facility:
Name: AOU Pisana

Address:
City: Pisa
Country: Italy

Status: Active, not recruiting

Facility:
Name: Ospedale Pediatrico Bambin Gesù IRCCS

Address:
City: Roma
Country: Italy

Status: Active, not recruiting

Start date: October 18, 2023

Completion date: October 18, 2025

Lead sponsor:
Agency: Meyer Children's Hospital IRCCS
Agency class: Other

Source: Meyer Children's Hospital IRCCS

Record processing date: ClinicalTrials.gov processed this data on November 12, 2024

Source: ClinicalTrials.gov page: https://clinicaltrials.gov/ct2/show/NCT06332196