Validation of Molecular Diagnostic Assays to Detect Cancer Biomarkers in Blood & Primary Tumor in ER+/HER2- MBC

NCT04480814 | Completed

• 1 other identifier: CBS-PIK3CA
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 4

Brief Summary

Conventional biopsy and surgical tumor resection are invasive procedures that capture only one instance of the progression of the tumor. However, the genome of tumor is not static, but it is constantly altered during treatment. Liquid biopsy is a non-invasive approach based on the extraction of information through peripheral blood analysis. It makes it possible to characterize the development of a solid tumor in real time, through detailed molecular analysis of circulating genetic material in peripheral blood.

Conditions

Breast Cancer

Keywords

Liquid biopsy; CTC; Plasma; PIK3CA

Outcome Measures

Primary Outcomes (1)

• Clinical performance of PIK3CA kit in CTCs, plasma and tumor tissue samples of metastatic breast cancer patients

  The performance of PIK3CA kit on detecting mutations in CTCs samples of metastatic breast cancer patients will be assessed via Sensitivity, Specificity, Positive and Negative Predictive Values, Positive and Negative Likelihood Ratios, Accuracy and Diagnostic Odds Ratio. The point of primary evaluation in CTCs samples will be at baseline and droplet digital PCR will be used as reference method. The performance of PIK3CA kit on detecting mutations in plasma-ctDNA, and tumor tissue samples of metastatic breast cancer patients will be assessed via Sensitivity, Specificity Positive and Negative Predictive Values, Positive and Negative Likelihood Ratios, Accuracy and Diagnostic Odds Ratio. The point of primary evaluation in plasma-ctDNA and tumor tissue samples will be at baseline and therascreen PIK3CA RGQ PCR Kit will be used as reference method.

  18 months

Secondary Outcomes (3)

• - To study the PIK3CA Mutation Status before and after treatment of metastatic breast cancer patients using PIK3CA kit.

  24 months

• - To assess the PIK3CA Mutation Status before treatment vs treatment response of metastatic breast cancer patients using PIK3CA kit.

  24 months

• - To correlate patients' survival status with PIK3CA mutations at baseline

  24 months

Other Outcomes (3)

• To study CK-19 expression in CTC samples

  24 months

• To study methylation status of ESR1 in CTC, ctDNA and tumor tissue samples

  24 months

• To study the presence of other biomarkers in tissue and liquid biopsy sample (at baseline).

  24 months

Study Arms (2)

Metastatic Breast Cancer

The study population are subjects with a confirmed diagnosis of ER+/HER2 metastatic Breast Cancer patient before the treatment initiation. The selected inclusion/exclusion criteria have been set to include in the performance study appropriate population of interest, as broad as possible, but to exclude these subjects that have another current malignancy or any history of recent malignancy within 3 years.

Diagnostic Test: PIK3CA kit

Healthy volunteers

In case of healthy volunteers only peripheral blood samples will be collected.

Diagnostic Test: PIK3CA kit

Interventions

PIK3CA kit DIAGNOSTIC_TEST

Prospective investigation of clinical samples for evaluation of IVD clinical performance

Healthy volunteers; Metastatic Breast Cancer

Eligibility Criteria

• Age: 18 Years+
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

120 with metastatic breast cancer 30 healthy subjects

You may qualify if:

• Female aged ≥ 18 years of age.
• Histological confirmed ER+/HER2- metastatic Breast Cancer prior to beginning a treatment
• Life expectancy permits participation to the study.
• Available tumor tissue sample for molecular analysis.
• Signed informed consent form.

You may not qualify if:

• Female younger than 18 years old.
• History of another malignancy within 3 years or current 2nd primary malignancy.
• Patients that have not signed the informed consent.

Sponsors & Collaborators

• Pharmassist Ltd: lead
• University of Athens: collaborator

Study Sites (4)

University General Hospital of Alexandroupoli

Alexandroupoli, Alexandroupolis, 68100, Greece

Location

Aretaieio University Hospital of Athens

Athens, Attica, 11528, Greece

Location

University General Hospital of Athens Attikon

Athens, Attica, 124 62, Greece

Location

Metropolital Hospital

Piraeus, Piraeus, 18547, Greece

Location

Biospecimen

Retention: SAMPLES WITH DNA

CTCs, plasma-ctDNA and primary tumor tissue samples

MeSH Terms

Conditions

Breast Neoplasms; Hereditary Sensory and Autonomic Neuropathies

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 20, 2020
• First Posted: July 21, 2020
• Study Start: October 11, 2019
• Primary Completion: February 8, 2022
• Study Completion: February 8, 2022
• Last Updated: December 30, 2025

Record last verified: 2025-12

Locations

GR (4)