Mutational Oncology in Clinical Practice (FPG-500)

Mutational Oncology in Clinical Practice: Development of a Comprehensive Cancer Genome Profile Pathway.

The study of biological profiling is of fundamental importance in the diagnosis and treatment of many diseases, particularly oncological ones, and for this reason, the integration of molecular characterization into clinical practice becomes essential. NGS allows a high number of samples to be sequenced simultaneously, generating a great deal of genomic information in a short time and at reasonable cost. This information is of fundamental importance for the study of oncogenic drivers and gene alterations that may have a prognostic and/or predictive role in response to new molecularly targeted drugs.

Policlinico A. Gemelli has begun a process of internal reorganization of the research infrastructure following its recognition in 2018 as an Institute of Hospitalization and Treatment with Scientific Character (IRCCS) for its commitment to the disciplines of "Personalized Medicine" and "Innovative Biotechnology." In particular, with regard to genomics, will be equipped with a state-of-the-art technological asset that includes a fully automated process for sample preparation and the highest gene sequencing power available today. This condition makes it possible to perform extensive genomic profiling for large numbers of patients at low cost and in reasonable time.

Study Overview

• Status: Recruiting
• Conditions: Genetic Predisposition to Disease; Gene Rearrangement; Genome Instability
• Intervention / Treatment: Genetic: Diagnostic Test

• Study Type: Interventional
• Enrollment (Estimated): 20000
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Giovanni Scambia; Phone Number: 0630158668; Email: giovanni.scambia@policlinicogemelli.it
• Study Contact Backup: Name: Camilla Nero; Phone Number: 0630158668; Email: camilla.nero@policlinicogemelli.it

Study Locations

• Italy
  • Rome, Italy
    • Recruiting
    • Fondazione Policlinico Universitario Agostino Gemelli Irccs
    • Contact: Giovanni Scambia; Email: giovanni.scambia@policlinicogemelli.it
    • Contact: Camilla Nero; Email: camilla.nero@policlinicogemelli.it

Participation Criteria

Eligibility Criteria

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

Description

- Patients with neoplasm of the lung, breast, ovary, pancreas, prostate, colorectum, melanoma, GIST, thyroid neoplasm, endometrium, and cholangiocarcinoma:

1. BREAST Locally advanced or metastatic, hormone-responsive, HER2-negative breast neoplasm, progressing after endocrine therapy.
2. LUNG Metastatic disease.
3. OVARY Any stage of nonmucinous, non-borderline epithelial carcinoma of the ovary, fallopian tube, or primary peritoneal carcinoma.
4. PANCREAS Metastatic disease.
5. PROSTATE Metastatic castration-resistant disease.
6. COLORECTUM Metastatic disease.
7. MELANOMA Stage IV or stage III undergoing surgery.
8. GIST Profiling of c-KIT in case of metastatic disease or for patients undergoing surgery and of PDGFRα for all patients with inoperable or metastatic disease.
9. THYROID
10. ENDOMETRIUM
11. CHOLANGIOCARCINOMA

Study Plan

How is the study designed?

Design Details

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

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: Interventional

Genetic: Diagnostic Test; In order to proceed with molecular characterization, the tumor sample already taken for histological diagnosis will undergo DNA and RNA extraction, which will be analyzed for qualitative and quantitative evaluation. Based on the quantitative data, the method to be used for profiling will be decided. Multigenic genomic profiling will be performed for each patient on already taken tumor tissue using different panels depending on the quality and quantity of nucleic acids, in particular the following will be used: comprehensive Genome Profiling (CGP, ≥500 genes), if at least 40 ng of material is available; Profiling with identification of actionable mutations by targeted sequencing with panels of size >50 genes, if <40 ng material available.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comprehensive Genome Profiling	Evaluate the impact and efficacy of a 500 cancer genes profiling in an Italian referral centre	5 years

Collaborators and Investigators

• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2022
• Primary Completion (Actual): May 1, 2023
• Study Completion (Estimated): January 1, 2032

Study Registration Dates

• First Submitted: May 8, 2023
• First Submitted That Met QC Criteria: August 30, 2023
• First Posted (Actual): August 31, 2023

Study Record Updates

• Last Update Posted (Actual): August 31, 2023
• Last Update Submitted That Met QC Criteria: August 30, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Genetic Predisposition to Disease; Genomic Instability
• Other Study ID Numbers: 3837 (Inselspital, Bern University Hospital)

Drug and device information, study documents

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