Mutational Oncology in Clinical Practice

NCT ID: NCT06020625

Last Updated: 2023-08-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

20000 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-01-01

Study Completion Date

2032-01-31

Brief Summary

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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.

Detailed Description

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Conditions

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Genome Instability Genetic Predisposition to Disease Gene Rearrangement

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

HEALTH_SERVICES_RESEARCH

Blinding Strategy

NONE

Study Groups

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Interventional

Group Type EXPERIMENTAL

Diagnostic Test

Intervention Type GENETIC

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.

Interventions

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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.

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

\- 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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Fondazione Policlinico Universitario Agostino Gemelli IRCCS

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Rome, , Italy

Site Status RECRUITING

Countries

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Italy

Central Contacts

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Giovanni Scambia

Role: CONTACT

Phone: 0630158668

Email: [email protected]

Camilla Nero

Role: CONTACT

Phone: 0630158668

Email: [email protected]

Facility Contacts

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Giovanni Scambia

Role: primary

Camilla Nero

Role: backup

References

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Mastrantoni L, Camarda F, Parrillo C, Persiani F, Trozzi R, Pasciuto T, Manfredelli M, Minucci A, De Paolis E, Capasso I, Iacobelli V, Perri MT, Zannoni GF, Fanfani F, Scambia G, Nero C. Gene actionability according to the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) in No Specific Molecular Profile (NSMP) endometrial cancer. ESMO Open. 2025 Sep;10(9):105755. doi: 10.1016/j.esmoop.2025.105755. Epub 2025 Sep 3.

Reference Type DERIVED
PMID: 40907210 (View on PubMed)

Vita E, Scala A, Vitale A, Mastrantoni L, Evangelista J, D'Auria F, Stefani A, Monaca F, Russo J, Horn G, Troisi P, Cosmai A, Polidori S, Di Salvatore M, De Paolis E, Minucci A, Nero C, Trisolini R, Cancellieri A, Scambia G, Tortora G, Bria E. Network analysis of NRG1 variants of uncertain significance (VUSes) in advanced non-small-cell lung cancer and their prognostic role in EGFR-mutant patients treated with first-line osimertinib. ESMO Open. 2025 Sep;10(9):105556. doi: 10.1016/j.esmoop.2025.105556. Epub 2025 Aug 29.

Reference Type DERIVED
PMID: 40885102 (View on PubMed)

Vitale A, Mastrantoni L, Russo J, Giacomini F, Giannarelli D, Duranti S, Vita E, Nero C, D'Argento E, Pasciuto T, Giaco L, Di Salvatore M, Panfili A, Stefani A, Cancellieri A, Lococo F, De Paolis E, Livi V, Daniele G, Trisolini R, Minucci A, Margaritora S, Lorusso D, Normanno N, Scambia G, Tortora G, Bria E. Impact of Comprehensive Genome Profiling on the Management of Advanced Non-Small Cell Lung Cancer: Preliminary Results From the Lung Cancer Cohort of the FPG500 Program. JCO Precis Oncol. 2024 Oct;8:e2400297. doi: 10.1200/PO.24.00297. Epub 2024 Oct 7.

Reference Type DERIVED
PMID: 39374480 (View on PubMed)

Other Identifiers

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3837

Identifier Type: -

Identifier Source: org_study_id