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

NCT06304194 | Recruiting

• 1 other identifier: BIOMARC_ONCO
• Study Type: interventional
• Target: 340
• Locations: 1 country
• Sites: 3

Brief Summary

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.

Conditions

Oncologic Disease; Hematologic Diseases

Outcome Measures

Primary Outcomes (5)

• 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 Outcomes (2)

• Genetic variants

  After 5 year from the beginning of the study

• Completed patient cards

  After 5 year from the beginning of the study

Study Arms (1)

Patients with suspected diagnostic onco-hematologic/immunologic disease

OTHER

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

Interventions

Analysis of biological samples OTHER

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

Patients with suspected diagnostic onco-hematologic/immunologic disease

Eligibility Criteria

• Age: 0 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Meyer Children's Hospital IRCCS: lead

Study Sites (3)

Meyer Children's Hospital IRCCS

Florence, Italy

RECRUITING

Azienda Ospedaliero-Universitaria Pisana

Pisa, Italy

RECRUITING

Azienda Ospedaliero-Universitaria Senese

Siena, Italy

RECRUITING

MeSH Terms

Conditions

Hematologic Diseases

Condition Hierarchy (Ancestors)

Hemic and Lymphatic Diseases

Study Officials

• Marinella Veltroni

  Meyer Children's Hospital IRCCS

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marinella Veltroni

CONTACT

0555662606; marinella.veltroni@meyer.it

Study Design

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

Study Record Dates

• First Submitted: February 23, 2024
• First Posted: March 12, 2024
• Study Start: July 5, 2023
• Primary Completion (Estimated): July 5, 2027
• Study Completion (Estimated): July 5, 2028
• Last Updated: March 12, 2024

Record last verified: 2024-03

Locations

IT (3)