Ovarian Cancer Liquid Biopsy for Early Assessment & Detection in Individuals With BRCA1/2 Pathogenic Variants (OC-LEAD)

Ovarian Cancer Liquid Biopsy for Early Assessment & Detection (OC-LEAD)

The goal of this clinical study is to evaluate the feasibility and acceptability of the Galleri multi-cancer early detection blood test in people with BRCA1 or BRCA2 gene changes who are at high risk for ovarian cancer. The study will also explore how well the test detects ovarian cancer or related precancerous conditions.

The main questions it aims to answer are:

• Is it feasible to incorporate the Galleri blood test into the care of people at high * risk for ovarian cancer?
• Is the Galleri blood test acceptable to participants?
• How well does the Galleri blood test identify ovarian cancer or related precancerous conditions?

Participants will:

• Receive the Galleri blood test.
• Complete questionnaires about their experience with the test.
• Some participants will also complete an interview about their experiences and preferences.
• Continue with their planned standard medical care, including surgery or follow-up visits, as appropriate.

Study Overview

• Status: Not yet recruiting
• Conditions: Ovarian Neoplasms; BRCA 1 Gene Mutation; BRCA 2 Gene Mutation; Serous Tubal Intraepithelial Carcinoma; Early Detection of Ovarian Cancer
• Intervention / Treatment: Device: Galleri Multi-Cancer Early Detection (MCED) Blood Test

Detailed Description

This is a prospective, multi-center, mixed-methods feasibility study evaluating the integration of the Galleri multi-cancer early detection (MCED) liquid biopsy into hereditary cancer risk management for individuals at increased risk of epithelial ovarian cancer due to pathogenic or likely pathogenic BRCA1 or BRCA2 variants. The study also includes individuals with a prior diagnosis of serous tubal intraepithelial carcinoma (STIC), a precursor lesion associated with an increased risk of subsequent ovarian, fallopian tube, or primary peritoneal cancer.

The primary objective is to evaluate the feasibility of incorporating liquid biopsy testing into clinical care. Secondary objectives include evaluating participant acceptability, identifying barriers and facilitators to implementation, and generating preliminary data to inform a future large-scale validation study. Exploratory analyses will evaluate the relationship between liquid biopsy results and surgical pathology findings, including estimates of sensitivity, specificity, positive predictive value, negative predictive value, and concordance when feasible.

The study consists of two cohorts:

Cohort A (Surgical Feasibility Cohort):

Approximately 50 adults with BRCA1 or BRCA2 pathogenic variants who are undergoing planned risk-reducing gynecologic surgery at Weill Cornell Medicine or MD Anderson Cancer Center will receive the Galleri blood test on the day of surgery. Liquid biopsy results will be compared with surgical pathology findings to evaluate the feasibility of integrating blood-based cancer detection into hereditary cancer prevention. Participants will remain on their planned standard-of-care clinical pathway, and no additional surgical procedures will be performed for research purposes.

Cohort B (Exploratory STIC Cohort):

Up to 20 adults with a previous diagnosis of STIC will undergo baseline and annual Galleri blood testing for up to 10 years. The study will evaluate the feasibility and acceptability of long-term blood-based surveillance and descriptively characterize longitudinal liquid biopsy findings and clinical outcomes.

A subset of approximately 20-30 participants from Cohort A will complete semi-structured interviews or focus groups within six months of surgery. Interviews will be guided by Levesque's Healthcare Access Framework to explore participant perceptions, trust, barriers, facilitators, and implementation considerations related to liquid biopsy testing. Findings will help inform equitable implementation of future ovarian cancer early detection strategies.

The Galleri test used in this study is an investigational in vitro diagnostic device performed in a CLIA-certified laboratory. It is not approved by the U.S. Food and Drug Administration for ovarian cancer screening or this specific indication and is being evaluated for research purposes only.

Results from this feasibility study are intended to support the development of a future multi-site validation study evaluating the diagnostic performance of liquid biopsy for early detection of epithelial ovarian cancer in individuals with hereditary cancer susceptibility.

• Study Type: Interventional
• Enrollment (Estimated): 70
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Melissa K Frey, Study Official, MD, MS; Phone Number: 646-697-6621; Email: mkf2002@med.cornell.edu

Study Locations

• United States
  • New York
    • New York, New York, United States, 10065
      • Weill Cornell Medicine
      • Contact: Melissa K Frey, MD, MS; Phone Number: 646-697-6621; Email: mkf2002@med.cornell.edu
      • Principal Investigator: Melissa K Frey, MD, MS
  • Texas
    • Houston, Texas, United States, 77030
      • MD Anderson Cancer Center
      • Contact: Jose A Rauh-Hain, MD; Phone Number: 713-392-6161; Email: JARauh@mdanderson.org
      • Principal Investigator: Jose A Rauh-Hain, MD, MS

Participation Criteria

Eligibility Criteria

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

Description

Inclusion Criteria:

Cohort A participants must meet all of the following criteria:

1. Age ≥ 35 years (based on current National Comprehensive Cancer Network guidelines35 for risk-reducing gynecologic surgery) with no upper age limit
2. Confirmed germline PV or likely PV in the BRCA1 or BRCA2 genes, documented by CLIA-certified genetic testing.
3. Scheduled to undergo risk-reducing gynecologic surgery (salpingo-oophorectomy or salpingectomy with or without hysterectomy) at the study site.

4. Willing and able to provide informed consent in English This initial phase is limited to English-speaking participants. This limitation is due to feasibility considerations for initial qualitative instrument validation; future phases will incorporate translated materials

   Cohort B participants must meet all of the following criteria:

5. Age ≥ 35 years with no upper age limit.
6. STIC lesion previously identified on surgical pathology within the prior 10 years.
7. Willing and able to undergo baseline and annual research blood draws for up to 10 years following STIC lesion diagnosis.
8. Willing and able to provide informed consent in English

Exclusion Criteria:

Cohort A:

1. Pregnant or breastfeeding at the time of enrollment.
2. Prior removal of bilateral fallopian tubes and/or bilateral ovaries.
3. Active diagnosis of cancer.
4. Prior or active diagnosis of epithelial ovarian, fallopian tube, or primary peritoneal cancer at the time of consent.
5. Patients with a history of cancer are eligible when > 2 years no evidence of disease.
6. Inability to provide informed consent.
7. Concurrent participation in another interventional trial that may confound study outcomes.

Cohort B:

1. Pregnant or breastfeeding at the time of enrollment.
2. Active diagnosis of cancer.
3. Prior or active diagnosis of epithelial ovarian, fallopian tube, or primary peritoneal cancer at the time of consent (prior STIC lesion is NOT a contraindication to enrollment).
4. Patients with a history of cancer are eligible when > 2 years no evidence of disease.
5. Inability to provide informed consent.
6. Concurrent participation in another interventional trial that may confound study outcomes.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: Non-Randomized
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Cohort A: BRCA1/2 Surgical Feasibility Cohort; Cohort A: Participants with pathogenic or likely pathogenic BRCA1/2 variants undergoing planned risk-reducing gynecologic surgery who receive the Galleri multi-cancer early detection blood test on the day of surgery. Liquid biopsy results will be correlated with surgical pathology findings.	Device: Galleri Multi-Cancer Early Detection (MCED) Blood Test; Participants will undergo blood collection for the Galleri multi-cancer early detection (MCED) test, an investigational in vitro diagnostic device performed in a CLIA-certified laboratory. Results will be evaluated for feasibility, acceptability, and exploratory diagnostic performance for early detection of epithelial ovarian cancer in high-risk individuals.
Experimental: Cohort B: STIC Longitudinal Surveillance Cohort; Cohort B: Participants with a prior diagnosis of serous tubal intraepithelial carcinoma (STIC) who receive the Galleri multi-cancer early detection blood test at baseline and annually for up to 10 years as part of longitudinal surveillance.	Device: Galleri Multi-Cancer Early Detection (MCED) Blood Test; Participants will undergo blood collection for the Galleri multi-cancer early detection (MCED) test, an investigational in vitro diagnostic device performed in a CLIA-certified laboratory. Results will be evaluated for feasibility, acceptability, and exploratory diagnostic performance for early detection of epithelial ovarian cancer in high-risk individuals.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Feasibility of Galleri testing in BRCA1/2 surgical cohort A	Proportion of eligible BRCA1/2 PV patients in Cohort A who successfully complete liquid biopsy testing day of risk-reducing gynecologic surgery, with corresponding surgical pathology available for correlation.	Day of surgery (up to 1 day)
Feasibility of annual Galleri testing in STIC cohort B	Proportion of Cohort B patients who continue with annual liquid biopsy following diagnosis of STIC lesion for 10 years following STIC lesion diagnosis	Up to 10 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Participant-Reported Perceptions Regarding Liquid Biopsy	This portion of the semi-structured participant interviews and focus groups will explore perceptions regarding liquid biopsy for early detection of epithelial ovarian cancer, guided by Levesque's Healthcare Access Framework. Participants will complete semi-structured interviews or focus groups. Qualitative thematic analysis will be conducted. The identified themes will be reported, and the outcome measure will be the number of participants who endorsed each identified theme.	One 45-60-minute interview or focus group conducted within 6 months following the participant's surgery.
Participant-Reported Barriers Regarding Liquid Biopsy	This portion of the semi-structured participant interviews and focus groups will explore barriers regarding liquid biopsy for early detection of epithelial ovarian cancer, guided by Levesque's Healthcare Access Framework. Participants will complete semi-structured interviews or focus groups. Qualitative thematic analysis will be conducted. The identified themes will be reported, and the outcome measure will be the number of participants who endorsed each identified theme.	One 45-60-minute interview or focus group conducted within 6 months following the participant's surgery.
Participant-Reported Facilitators Regarding Liquid Biopsy	This portion of the semi-structured participant interviews and focus groups will explore facilitators regarding liquid biopsy for early detection of epithelial ovarian cancer, guided by Levesque's Healthcare Access Framework. Participants will complete semi-structured interviews or focus groups. Qualitative thematic analysis will be conducted. The identified themes will be reported, and the outcome measure will be the number of participants who endorsed each identified theme.	One 45-60-minute interview or focus group conducted within 6 months following the participant's surgery.
Participant-Reported Acceptability Regarding Liquid Biopsy	This portion of the semi-structured participant interviews and focus groups will explore acceptability regarding liquid biopsy for early detection of epithelial ovarian cancer, guided by Levesque's Healthcare Access Framework. Participants will complete semi-structured interviews or focus groups. Qualitative thematic analysis will be conducted. The identified themes will be reported, and the outcome measure will be the number of participants who endorsed each identified theme.	One 45-60-minute interview or focus group conducted within 6 months following the participant's surgery.
Participant-Reported Trust Regarding Liquid Biopsy	This portion of the semi-structured participant interviews and focus groups will explore trust regarding liquid biopsy for early detection of epithelial ovarian cancer, guided by Levesque's Healthcare Access Framework. Participants will complete semi-structured interviews or focus groups. Qualitative thematic analysis will be conducted. The identified themes will be reported, and the outcome measure will be the number of participants who endorsed each identified theme.	One 45-60-minute interview or focus group conducted within 6 months following the participant's surgery.
Detection of non-ovarian cancer signals via liquid biopsy in Cohort A	Rates of detection of non-ovarian cancer signals via liquid biopsy in cohort A.	Up to 10 years
Sensitivity of liquid biopsy for the detection of epithelial ovarian cancer (EOC) based on surgical pathology results for Cohort A	Sensitivity will be reported as the proportion of Cohort A participants with a positive surgical pathology result who have a positive liquid biopsy result. Liquid biopsy results will be compared with final surgical pathology findings.	At the time of surgical pathology review (approximately 6 months).
Specificity of liquid biopsy for the detection of epithelial ovarian cancer (EOC) based on surgical pathology results for Cohort A	Specificity will be reported as the proportion of Cohort A participants with a negative surgical pathology result who have a negative liquid biopsy result. Liquid biopsy results will be compared with final surgical pathology findings.	At the time of surgical pathology review (approximately 6 months).
PPV of diagnostic performance in Cohort A	Positive predictive value (NPV) of liquid biopsy for the detection of epithelial ovarian cancer (EOC) based on surgical pathology results for Cohort A.	At the time of surgical pathology review (approximately 6 months).
NPV of diagnostic performance in Cohort A	Negative predictive value (NPV) of liquid biopsy for the detection of epithelial ovarian cancer (EOC) based on surgical pathology results for Cohort A.	At the time of surgical pathology review (approximately 6 months).
Identified source of non-ovarian cancer signal following diagnostic evaluation in Cohort A	The identified source of the non-ovarian cancer signal in Cohort A participants, when determined through subsequent standard-of-care diagnostic evaluation (e.g., findings from physical examinations, imaging, laboratory testing, and other clinically indicated evaluations).	Approximately 6 months after enrollment.
Findings of diagnostic evaluations following detection of a non-ovarian cancer signal in Cohort A	Findings from subsequent standard-of-care diagnostic evaluations performed in Cohort A participants following detection of a non-ovarian cancer signal by liquid biopsy, including findings from physical examinations, imaging, laboratory testing, and other clinically indicated evaluations.	Approximately 6 months after enrollment.
Liquid biopsy completion in STIC cohort B at baseline	For Cohort B, the proportion of participants completing the baseline liquid biopsy at study enrollment.	Baseline (study enrollment)
Change from baseline in liquid biopsy completion in STIC Cohort B at 1 year	For Cohort B, the proportion of participants completing the baseline liquid biopsy at 1 year.	1 year after enrollment
Change from baseline in liquid biopsy completion in STIC Cohort B at 2 years	For Cohort B, the proportion of participants completing the baseline liquid biopsy at 2 years.	2 years after enrollment
Change from baseline in liquid biopsy completion in STIC Cohort B at 3 years	For Cohort B, the proportion of participants completing the baseline liquid biopsy at 3 years.	3 years after enrollment
Change from baseline in liquid biopsy completion in STIC Cohort B at 4 years	For Cohort B, the proportion of participants completing the baseline liquid biopsy at 4 years.	4 years after enrollment
Change from baseline in liquid biopsy completion in STIC Cohort B at 5 years	For Cohort B, the proportion of participants completing the baseline liquid biopsy at 5 years.	5 years after enrollment
Change from baseline in liquid biopsy completion in STIC Cohort B at 6 years	For Cohort B, the proportion of participants completing the baseline liquid biopsy at 6 years.	6 years after enrollment
Change from baseline in liquid biopsy completion in STIC Cohort B at 7 years	For Cohort B, the proportion of participants completing the baseline liquid biopsy at 7 years.	7 years after enrollment
Change from baseline in liquid biopsy completion in STIC Cohort B at 8 years	For Cohort B, the proportion of participants completing the baseline liquid biopsy at 8 years.	8 years after enrollment
Change from baseline in liquid biopsy completion in STIC Cohort B at 9 years	For Cohort B, the proportion of participants completing the baseline liquid biopsy at 9 years.	9 years after enrollment
Change from baseline in liquid biopsy completion in STIC Cohort B at 10 years	For Cohort B, the proportion of participants completing the baseline liquid biopsy at 10 years.	10 years after enrollment
Overall participant retention over the 10-year follow-up period in STIC Cohort B	Proportion of Cohort B participants remaining in the study over the 10-year follow-up period.	Up to 10 years after enrollment.

Collaborators and Investigators

• Sponsor: Weill Medical College of Cornell University
• Collaborators: M.D. Anderson Cancer Center
• Investigators: Principal Investigator: Melissa K Frey, MD, MS, Weill Medical College of Cornell University

Study record dates

Study Major Dates

• Study Start (Estimated): August 1, 2026
• Primary Completion (Estimated): July 1, 2039
• Study Completion (Estimated): July 1, 2039

Study Registration Dates

• First Submitted: August 10, 2026
• First Submitted That Met QC Criteria: August 10, 2026
• First Posted (Actual): August 14, 2026

Study Record Updates

• Last Update Posted (Actual): August 14, 2026
• Last Update Submitted That Met QC Criteria: August 10, 2026
• Last Verified: August 1, 2026

More Information

Terms related to this study

• Keywords: Ovarian cancer; BRCA2; Liquid biopsy; BRCA1; Implementation science; Cancer screening; Hereditary cancer; Risk-reducing salpingo-oophorectomy; Multi-cancer early detection; Early cancer detection; Galleri; Hereditary breast and ovarian cancer syndrome; Serous tubal intraepithelial carcinoma (STIC)
• Additional Relevant MeSH Terms: Urogenital Diseases; Genital Diseases; Endocrine System Diseases; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Genetic Diseases, Inborn; Genital Diseases, Female; Endocrine Gland Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Neoplasms, Female; Gonadal Disorders; Skin Diseases; Breast Diseases; Neoplastic Syndromes, Hereditary; Breast Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Ovarian Neoplasms; Hereditary Breast and Ovarian Cancer Syndrome; Investigative Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Hematologic Tests
• Other Study ID Numbers: 26-02029818

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: Yes
• product manufactured in and exported from the U.S.: No