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

NCT06332196 | Recruiting

• 1 other identifier: L-IEI
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 4

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.

Conditions

Immune Deficiency

Outcome Measures

Primary Outcomes (1)

• To unravel inborn error of immunity behind Lymphoid neoplasm in children

  Characterizing the role of the immune system in the pathogenesis of polyclonal and clonal lymphoproliferation. In particular, the main aim of our study will be the identification, by means of second-generation genetic analysis and functional validation studies of the identified variants, of congenital immune system defects in patients with lymphoid neoplasia

  Through study completion, an average of 1 year

Secondary Outcomes (1)

• Identification of lymphoma-specific biomarkers

  Through study completion, an average of 1 year

Study Arms (1)

Patient with Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL)

OTHER

Patient with Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL)

Other: Analysis of biological sample and clinical data

Interventions

Analysis of biological sample and clinical data OTHER

Analysis of biological sample and clinical data

Patient with Hodgkin's lymphoma (HL) or non-Hodgkin's lymphoma (NEIL)

Eligibility Criteria

• Age: 1 Day - 24 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Meyer Children's Hospital IRCCS: lead

Study Sites (4)

AOU Malpighi IRCCS

Bologna, Italy

ACTIVE NOT RECRUITING

Meyer Children's Hospital IRCCS

Florence, Italy

RECRUITING

AOU Pisana

Pisa, Italy

ACTIVE NOT RECRUITING

Ospedale Pediatrico Bambin Gesù IRCCS

Roma, Italy

ACTIVE NOT RECRUITING

MeSH Terms

Conditions

Immunologic Deficiency Syndromes

Condition Hierarchy (Ancestors)

Immune System Diseases

Study Officials

• Eleonora Gambineri

  Meyer Children's Hospital IRCCS

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Eleonora Gambineri

CONTACT

0555662624; eleonora.gambineri@meyer.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Model Details: Patients diagnosed with non-Hodgkin's lymphoma (NHL) or Hodgkin's lymphoma (HL) aged and patients with previous lymphoma and signs of immunodeficiency

Study Record Dates

• First Submitted: February 24, 2024
• First Posted: March 27, 2024
• Study Start: October 18, 2023
• Primary Completion: June 18, 2025
• Study Completion: October 18, 2025
• Last Updated: March 27, 2024

Record last verified: 2024-03

Locations

IT (4)