Molecular Characterizazion and Biological Samples Centralisation of Patients Affected by Oncoematolofic Pathology

Pilot Study to Assess the Feasibility of Centralizing Biological Samples at Onset and Relapse of Patients Referred to CROP Centers for Molecular Characterization of Oncohematologic Pathology

Currently, the molecular characterization of onco-hematological, onco-immunological and hematological diseases, at onset or in relapse, of patients with suspected diagnosis afferent to the CROP centers, is done through centralization of biological samples at reference laboratories outside the Tuscany Region.

In order to preserve the wealth of clinical and biological data and use it for the benefit of present and future patients treated at the CROP centers, it is useful to evaluate the feasibility of centralization and molecular typing of mutations present in tumor tissue at the IRCCS AOU Meyer Oncohematology Laboratories and subsequently the analysis of clinical data from patients with diseases not under study to lay the foundations of a translational database that can then be associated with a biobank in the future.

This will enable a targeted contribution to pediatric oncohematology research, investing in possible targeted therapies with those patient subgroups that benefit from personalized disease assessment in mind. The goal of the project is to improve the regional infrastructure dedicated to organized data collection and management of biological samples in adequate time resulting in better and more comprehensive data collection.

Study Overview

• Status: Recruiting
• Conditions: Hematologic Diseases; Oncologic Disease
• Intervention / Treatment: Other: Analysis of biological samples

• Study Type: Interventional
• Enrollment (Estimated): 340
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Marinella Veltroni; Phone Number: 0555662606; Email: marinella.veltroni@meyer.it

Study Locations

• Italy
  • Florence, Italy
    • Recruiting
    • Meyer Children's Hospital IRCCS
    • Contact: Marinella Veltroni; Email: marinella.veltroni@meyer.it
  • Pisa, Italy
    • Recruiting
    • Azienda Ospedaliero-Universitaria Pisana
    • Contact: Gabriella Casazza
  • Siena, Italy
    • Recruiting
    • Azienda Ospedaliero-Universitaria Senese
    • Contact: Salvatore Grosso

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Diagnostic suspicion of oncologic, hematologic or onco-immunologic disease
• Suspected recurrence of oncological, onco-hematological, hematological or onco -immunological disease
• Availability of biological material
• Signature of informed consent
• Age between 0 and 30 years

Exclusion Criteria:

• Failure to sign the consent
• Insufficiency of biological material for analysis
• Patients with HIV, HCV and HBV seropositivity (HBSAg) due to biohazard and bias related to patients' immunological status that could influence gene expression and tumor behavior.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Other: Patients with suspected diagnostic onco-hematologic/immunologic disease; All patients with suspected diagnostic onco-hematologic, onco-immunologic, and hematologic disease at onset or relapse. Patients undergo several procedures to complete the diagnostic process and eventually the staging of the disease

Other: Analysis of biological samples; The collected biological sample will be isolated and the specific nucleic acid (DNA/RNA/cfDNA) extracted for molecular analysis for understanding the reproducibility of the analysis and thus the feasibility of centralization: hot spot on DNa (ddPCR/Sanger); fusion genes on RNA (target resequencing); Known mutation analysis by liquid biopsy (cfDNA) for somatic mutations with a mutation frequency of less than 10%; Tumor type-associated gene sequence analysis by Sanger sequencing and NGS

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Average sample delivery time and % of accepted sample	average sample delivery time and % of samples accepted within 48 ±12 hours of collection out of total samples sent	After 5 year from the beginning of the study
Appropriateness sample labelling	% samples correctly labelled according to IATA criteria out of total samples accepted within 48 hours	After 5 year from the beginning of the study
Percentage of sample suitable for RNA extraction	% samples suitable for RNA extraction out of total samples intended for RNA analysis	After 5 year from the beginning of the study
Quantity and quality of extracted material.	% of samples valid for analysis in terms of quantity of extracted material (25 ng/ul for cfDNA, 25 ng per amplicon for genomic DNA, 100 ng tot for NGS) and quality, assessed as A260/280 ratio analysis (1.8-2 per DNA).	After 5 year from the beginning of the study
Research report production time	research report production time (from 2 weeks for known mutation analysis to 6 months for NGS).	After 5 year from the beginning of the study

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genetic variants	% variants validated with NGS and Sanger or in two independent experiments out of the total number of variants identified	After 5 year from the beginning of the study
Completed patient cards	% of completed patient cards out of total patient cards of registered patients	After 5 year from the beginning of the study

Collaborators and Investigators

• Sponsor: Meyer Children's Hospital IRCCS
• Investigators: Principal Investigator: Marinella Veltroni, Meyer Children's Hospital IRCCS

Study record dates

Study Major Dates

• Study Start (Actual): July 5, 2023
• Primary Completion (Estimated): July 5, 2027
• Study Completion (Estimated): July 5, 2028

Study Registration Dates

• First Submitted: February 23, 2024
• First Submitted That Met QC Criteria: March 4, 2024
• First Posted (Actual): March 12, 2024

Study Record Updates

• Last Update Posted (Actual): March 12, 2024
• Last Update Submitted That Met QC Criteria: March 4, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases
• Other Study ID Numbers: BIOMARC_ONCO

Drug and device information, study documents

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