Non-Invasive Diagnosis and Monitoring of Cardiac Masses by Liquid Biopsy (CarMA)

Non-Invasive Diagnosis and Monitoring of Cardiac Masses by Liquid Biopsy: The CarMA Study

This is a nonprofit, observational, prospective and retrospective,multicenter study in a population of young and adult patients ≥12 years with a diagnosis of a cardiac mass. The study will include both patients with masses of unknown pathological diagnosis and patients with a known histology of benign or malignant tumors. We predict a case-control allocation ratio of 1:1 between cardiac malignant tumors and benign lesions. Peripheral blood will be collected at participating centers during routine venipuncture,processed and then shipped for liquid biopsy ctDNA NGS analyses. If available, in malignant cases, matched tumor tissue samples collected as per clinical practice solid biopsies or surgery will be used for analyses. Longitudinal tracking through serial blood draws could be performed in selected cases of patients with cardiac malignancies who receive cancer treatment

Study Overview

• Status: Recruiting
• Conditions: Cardiac Masses
• Intervention / Treatment: Genetic: NGS-guided regimen: Regimen A

Detailed Description

This is a nonprofit, observational, prospective and retrospective, multicenter study. The primary objectives of this study are: (i) to assess the efficacy of liquid biopsy using ctDNA NGS in identifying tumor-specific somatic alterations in patients with cardiac malignancies, particularly primary cardiac sarcomas (PCS), and to differentiate these from benign cardiac lesions. Liquid biopsy, consisting of a venous blood samplecollected during routine venipuncture, will assess the nature of circulating DNA by a commercial NGS assay (i.e., Guardant Infinity, Guardant Health) and/or academic assays. When solid biopsy is available since previouslyperformed as per clinical practice, tumor DNA will be assessed by a commercial issue NGS assay (i.e., FoundationOne, Foundation Medicine) and/or academic assays

• Study Type: Observational
• Enrollment (Estimated): 26

Contacts and Locations

• Study Contact: Name: Katia Bencardino, MD; Phone Number: 3695 +39026444; Email: katia.bencardino@ospedaleniguarda.it
• Study Contact Backup: Name: Giorgio Patelli, MD; Phone Number: 3695 +39026444; Email: giorgio.patelli@ospedaleniguarda.it

Study Locations

• Italy
  • Italia
    • Milan, Italia, Italy, 20262
      • Recruiting
      • Niguarda hospital
      • Contact: Katia Bencardino, MD; Phone Number: 3695 +39026444; Email: katia.bencardino@ospedaleniguarda.it
      • Contact: Giorgio Patelli, MD; Phone Number: 3695 +39026444; Email: giorgio.patelli@ospedaleniguarda.it

Participation Criteria

Eligibility Criteria

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

• Sampling Method: Non-Probability Sample

Study Population

control:benign cardiac lesions; case:primary cardiac sarcomas young and adult patients with a diagnosis of a cardiac mass

Description

Inclusion Criteria

1. Age ≥12 years old
2. Suspected or confirmed diagnosis of a cardiac mass of any nature as assessed by standard clinical, radiological and/or pathological procedures.

Exclusion Criteria

1. Inability of the pa ent to fully understand and sign the informed consent.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
benign cardiac lesions; patients diagnosed with benign cardiac lesions	Genetic: NGS-guided regimen: Regimen A; Liquid biopsy, consisting of a venous blood sample, will be collected during routine venipuncture; Other Names: collection of blood for NGS and archival tissue sample, where available
primary cardiac sarcomas; patients diagnosed with primary cardiac sarcomas (PCS)	Genetic: NGS-guided regimen: Regimen A; Liquid biopsy, consisting of a venous blood sample, will be collected during routine venipuncture; Other Names: collection of blood for NGS and archival tissue sample, where available

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Molecular profile	Collect and analyse blood and tissue samples from both cases and control in terms of molecular profile	Jul2024-Jul2029

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Molecular targets	Collection and alalysis of blood and tissue samples from both cases and control in term of molecular profile. To identify the percentage and types of actionable molecular targets that could be amenable of potential targeted treatment according to the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT). To test the concordance of liquid biopsy NGS ctDNA with tissue-based NGS analyses in a subset of patients where both tissue and blood samples are available.	Jul2024-Jul2029

Collaborators and Investigators

• Sponsor: Niguarda Hospital
• Investigators: Principal Investigator: Katia Bencardino, MD, Niguarda hospital

Study record dates

Study Major Dates

• Study Start (Actual): July 25, 2024
• Primary Completion (Actual): January 1, 2025
• Study Completion (Estimated): December 25, 2026

Study Registration Dates

• First Submitted: August 23, 2025
• First Submitted That Met QC Criteria: November 14, 2025
• First Posted (Actual): November 19, 2025

Study Record Updates

• Last Update Posted (Actual): April 15, 2026
• Last Update Submitted That Met QC Criteria: April 13, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: Early-Onset Colorectal Cancer
• Other Study ID Numbers: 4861

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: Not decided yet

Drug and device information, study documents

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