Integrated Multiomics and Multilevel Characterization of Haematological Disorders and Malignancies (INTHEMA)

Exploratory multicenter, non-interventional, translational, retrospective and prospective study. All patients with a diagnosis of hematologic disorder or malignancy for whom biological samples and clinical data are available may be included in this study, after obtaining informed consent

Study Overview

• Status: Recruiting
• Conditions: Haematological Malignancy; Haematologic Disease
• Intervention / Treatment: Other: clinical data and sample collection

Detailed Description

Hematological malignancies account for approximately 9.5% of newly diagnosed cancers every year and their incidence shows an exponential rise after the age of 40. Since life expectancy is dramatically and continuously increasing worldwide, hematological diseases promise to become a substantial burden for the health care systems of the European society. The management of hematological malignancies is further complicated by the high level of disease heterogeneity in terms of pathogenic and molecular mechanisms. Due to the high level of heterogeneity in terms of cytogenetic, genetic, epigenetic, transcriptional, post-transcriptional and metabolic alterations, an accurate molecular classification of hematological diseases is needed to improve clinical outcomes and patients' management. This is an exploratory multicenter, non-interventional, translational, retrospective and prospective study. All patients with a diagnosis of hematologic disorder or malignancy for whom biological samples and clinical data are available may be included in this study, after obtaining informed consent. The primary objective is to improve our knowledge of the pathogenic mechanisms driving malignant disorders and transformation. The secondary objectives aim to improve diagnosis and stratification of onco-hematological patients and study drug response at preclinical level. After signing informed consent to the study, each patient will donate part of the samples (peripheral blood, bone marrow, biopsies) collected as per routine clinical practice for the management of their disease.

• Study Type: Observational
• Enrollment (Estimated): 2000

Contacts and Locations

• Study Contact: Name: Oriana Nanni, Dr; Phone Number: +39 0543 739100; Email: oriana.nanni@irst.emr.it
• Study Contact Backup: Name: Giorgia Simonetti, Dr; Phone Number: +39 0543 739956; Email: giorgia.simonetti@irst.emr.it

Study Locations

• Italy
  • Ravenna, Italy, 48121
    • Recruiting
    • UO Hematology, Ospedale S. Maria delle Croci
    • Contact: Francesco Lanza, MD
  • Rimini, Italy, 47923
    • Recruiting
    • UO Hematology Ospedale Infermi
    • Contact: Giulia Tolomelli, MD
  • Treviso, Italy, 31100
    • Recruiting
    • Ospedale Ca' Foncello Treviso
    • Contact: Michele Gottardi, MD
  • FC
    • Meldola, FC, Italy, 47014
      • Recruiting
      • Irst Irccs
      • Contact: Alessandro Lucchesi, MD; Email: alessandro.lucchesi@irst.emr.it
  • TO
    • Torino, TO, Italy, 10126
      • Recruiting
      • AOU Città della Salute e della Scienza di Torino

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients diagnosed with haematological malignancy or disorder (see inclusion criteria) treated in the participating centers will be considered for enrollment. Patients can be enrolled at diagnosis or at relapse. Samples will be collected before treatment, during treatment whenever possible, at follow-up, at remission and at each relapse.

Description

Inclusion Criteria:

1. Participant is willing and able to give informed consent for participation in the study
2. Male or Female, aged >18 years
3. Patients with histologically confirmed diagnosis of one of the following haematological diseases: monoclonal gammopathy of undetermined significance (MGUS), idiopathic cytopenia of undetermined significance (ICUS), clonal cytopenia of undetermined significance (CCUS), clonal hematopoiesis of indeterminate potential (CHIP) or hematological malignancies: Peripheral T-cell Lymphomas (PTCL), B- and T-Lymphoblastic Leukemias / Lymphomas (ALL), Burkitt Lymphoma (BL), B and T cell lymphoma, Acute Myeloid Leukemia (AML), Myeloproliferative Disease (Polycythemia Vera (PV), Essential Thrombocythemia (ET), Monocytic Leukemia), Chronic Lymphocytic Leukemia (CLL), Chronic Myeloid Leukemia (CML), Myelofibrosis, Myelodysplasia (MDS) including Macrocytic Anemia, Sideroblastic Anemia and Non-Neoplastic Hematologic Disease, Systemic Mastocytosis, Multiple Myeloma (MM), Plasma Cell Disease.
4. Available clinical data (demographics including ethnicity, stage of disease, concise treatment history, cytogenetic reports, and molecular data if available, as routinely performed during diagnosis procedures);
5. For the retrospective part of the study: availability of biological samples collected for routine diagnostics/therapeutic procedures and stored as appropriate, per laboratory standard procedures.

Exclusion Criteria:

• Patients included in clinical trials may be enrolled in this explorative study, except where otherwise clearly indicated in the experimental protocol

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

hematologic disorder or malignancy

Other: clinical data and sample collection; Patients with hematologic malignancies and disorders will be asked to donate part of the samples collected as per clinical practice for the management of their disease for the aims of this study. In addition, patients will be asked to donate one oral swab sample, and urine samples. Collection of these additional samples is a non-invasive procedure with no associated risks for patients. Clinical data (demographics including ethnicity, stage of disease, concise treatment history, cytogenetic reports, and molecular data if available, as routinely performed during diagnosis procedures) will be collected.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
haematologic diseases characterization	To improve our knowledge of the pathogenic mechanisms driving malignant disorders and transformation in different subgroups, defined by molecular, metabolic, proteomic, imaging, preclinical and clinical data integration	up to 5 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Ex vivo Response/resistance	To define response/resistance to ex vivo drug treatments;	up to 5 years
toxicity biomarkers identification	To identify biomarkers of drug-related toxicity;	up to 5 years
Biological and molecular features	To investigate association between biological and molecular features with patient's clinical features.	up to 5 years
Minimal residual disease (MRD)	To investigate recurrence/minimal residual disease patterns after treatments	up to 5 years
Prognostic and early diagnostic biomarkers	To identify novel biomarkers for early diagnosis (e.g. predictive of transformation from a pre-malignant to an overt malignant phase) and prognosis.	up to 5 years
identification of circulating and tissue molecular markers.	To improve the diagnostic work-up of haematological disease, thus enlarging the fraction of patients suitable for curative treatments through the identification of circulating and tissue molecular markers.	up to 5 years
technological advancement	To provide a technological advancement potentially applicable to the national health system, when properly validated in appropriate patients' subgroups.	up to 5 years

Collaborators and Investigators

• Sponsor: Istituto Scientifico Romagnolo per lo Studio e la cura dei Tumori
• Collaborators: Azienda Unità Sanitaria Locale della Romagna
• Investigators: Study Director: Giovanni Martinelli, Prof, Irst Irccs; Principal Investigator: Alessandro Lucchesi, MD, Irst Irccs

Study record dates

Study Major Dates

• Study Start (Actual): January 7, 2020
• Primary Completion (Estimated): February 1, 2025
• Study Completion (Estimated): February 1, 2025

Study Registration Dates

• First Submitted: March 4, 2020
• First Submitted That Met QC Criteria: March 4, 2020
• First Posted (Actual): March 6, 2020

Study Record Updates

• Last Update Posted (Actual): September 15, 2023
• Last Update Submitted That Met QC Criteria: September 13, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Keywords: Hematologic malignancies; omics; translational; integrated
• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Hematologic Neoplasms; Hematologic Diseases
• Other Study ID Numbers: IRSTB100

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No