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NCT Number: NCT04480814

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

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.

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Key information

Conditions

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

Age range

18 year and older

Sex eligibility

Female

Study type

Observational

Primary location

University General Hospital of Alexandroupoli, Alexandroupoli, Alexandroupolis, Greece

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About this study

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.

Study procedure:

  • Initial Visit (V0-Baseline): For the purposes of the study the following information will be collected: the demographics, medical and social history, the characteristics of the disease (stage, molecular characterization e.t.c) and the treatment regimen that is followed. As part of the visit, 20 mL of peripheral blood will be drawn prior to their treatment according to physician's suggestion as per common clinical practice. Blood samples will be then sent to ACTC laboratory for plasma/CTC isolation, DNA and RNA extraction and subsequent test for biomarkers. Primary tumor tissue samples will be also collected
  • Follow-up visit (V1): Response to treatment by RECIST based on restaging CTs/MRIs will be documented during this visit, which will take place 3 months after treatment initiation. As part of the visit, 20 mL of peripheral blood will be drawn.

Blood samples will be then sent to laboratory for plasma/CTC isolation, DNA and RNA extraction and subsequent test for biomarkers. Survival status and clinical response (CR, PR, SD, PD) will be also documented.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • 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.

Treatment and study plan

PIK3CA kit

Diagnostic Test

Prospective investigation of clinical samples for evaluation of IVD clinical performance

Primary outcomes

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

    Time frame: 18 months

    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.

Secondary outcomes

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

    Time frame: 24 months

    Presence of PIK3CA mutations at a second visit following to baseline of metastatic breast cancer patients using the PIK3CA kit.

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

    Time frame: 24 months

    Association of PIK3CA mutations presence at baseline with clinical response to treatment (CR, PR, SD, PD) of metastatic breast cancer patients using PIK3CA kit.

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

    Time frame: 24 months

    Metastatic breast cancer patients' survival status by presence of PIK3CA mutations at baseline.

Other outcomes

  1. To study CK-19 expression in CTC samples

    Time frame: 24 months

    Detection of CK-19 expression in CTCs

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

    Time frame: 24 months

    Methylation status of ESR1 in CTC, plasma and tumor samples

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

    Time frame: 24 months

    Molecular profile of cancer biomarkers between tissue and peripheral blood samples

Sponsors and collaborators

Lead sponsor

Pharmassist Ltd

Industry

Collaborators

  • University of Athens

Registry information

Official study title

A Clinical Performance Study to Validate the Use of Novel Molecular Diagnostic Assays for the Detection of Cancer Biomarkers in Peripheral Blood and Primary Tumor Tissue Samples of Patients With Metastatic ER+/HER2- Breast Cancer

Important dates

Study start
2019
Primary completion
2022
Study completion
2022
First posted
Jul 21, 2020
Registry last updated
Dec 30, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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