Endometrial CancerECHONCT05051722
Leveraging Methylated DNA Markers (MDMs) in the Detection of Endometrial Cancer, Ovarian Cancer, and Cervical Cancer
An observational study of Endometrial Cancer and Cervical Cancer, run by Mayo Clinic at 25 sites in United States.
Trial summary
The overarching objective of this project is to develop a pan-gynecologic cancer detection test using gynecologic (unique endometrial, cervical, and ovarian cancer) cancer-specific methylated DNA markers and high-risk human papilloma virus (HR-HPV) detected in vaginal fluid and/or plasma. Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Endometrial Cancer, Cervical Cancer, Atypical Endometrial Hyperplasia
- What is being tested?
- Vaginal Fluid Collection and Blood Collection
- How many people
- 3,110 participants
- Where
- 25 sitesUnited States
- Study dates
- 3 Aug 2021to 30 Jun 2027
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Patients presenting to a GYN or GYN Surgery Clinic for evaluation of symptoms or for consultation and planned procedures as outlined in the seven study cohort descriptions.
Who may be able to join
- Patients will be ≥45 years of age and meet one of the following criteria:
- Abnormal uterine bleeding
- Postmenopausal bleeding
- OR
- Patients ages 18 - 44 years of age and meet these criteria
- Abnormal uterine bleeding
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- One risk factor for endometrial cancer (BMI ≥30 or PCOS or Tamoxifen use)
- Patients will be ≥18 years of age and meet at least one of the following criteria:
- Presence of biopsy-proven EC (any histology, including uterine carcinosarcoma) and surgical intervention planned. Surgical intervention can include any of the following: hysterectomy, D\&C, hysteroscopic resection
- Biopsy showing AEH or EIN with surgical intervention planned. Surgical intervention can include any of the following: hysterectomy, D\&C, hysteroscopic resection, etc)
- Patients will be ≥18 years of age, have a cervix and meet at least one of the following criteria:
- History of current abnormal cervical/endocervical Pap test for which the patient is presenting for colposcopy
- Cervical mass identified on physical exam and patient referred for cervical biopsy, even if colposcopy not recommended or indicated
- Planned clinically indicated surgical excisional biopsy or removal of the cervix (cold knife cone, LEEP, hysterectomy) for abnormal Pap test, cervical dysplasia, cervical mass, or biopsy-proven invasive cervical cancer (adenocarcinoma, squamous cell carcinoma, adenosquamous carcinoma, or less common primary cervical carcinomas all eligible)
- Patients will be ≥45 years of age and should meet at least one of the following criteria:
- Undergoing hysterectomy with biopsy-proven or clinically presumed (based on imaging and/or clinical symptoms) benign gynecologic or uterine pathology of fibroids, endometriosis, adenomyosis, or benign endometrial polyps.
- Undergoing any gynecologic surgery in which a benign pathologic tissue diagnosis of fibroids, endometriosis, adenomyosis, or benign endometrial polyp is anticipated to be confirmed.
- Patients with a uterus will be ≥45 years of age and should meet the following criteria:
- Presenting for GYN wellness exam, ± Pap test
- No change in medical conditions, new diagnoses, or new medications within the past 6 months
- Patients ≥50 years of age and:
- Postmenopausal
- At least 1 intact ovary
- Diagnosis of an adnexal mass or a clinical suspicion of early-stage ovarian cancer (including fallopian tube cancer)
- Planned surgery for the adnexal mass
- For vaginal fluid collection, patient must have a uterus, cervix and at least 1 intact fallopian tube* (without prior tubal ligation/occlusion)
- Women will be ≥18 years of age and meet the following criteria:
- Presence of clinically probable ovarian, fallopian tube, or primary peritoneal cancer (all under the umbrella of OC) based on clinical findings of any/all of the following: imaging showing adnexal and/or abdominal masses consistent with probable ovarian cancer, omental caking, elevated CA125, ascites, imaging-guided biopsy consistent with OC pathology
- Newly diagnosed with ovarian, fallopian tube or primary peritoneal cancer without neoadjuvant therapy
- At least one intact ovary
- For vaginal fluid collection, patient must have a uterus, cervix and at least 1 intact fallopian tube* (without prior tubal ligation/occlusion)
Who cannot join
- Prior hysterectomy
- Current known pregnancy diagnosis
- Any prior pelvic or vaginal radiotherapy
- Any prior cancer (except basal cell skin cancer) within the past 5 years
- Chemotherapy within the past 5 years
- Current biopsy-proven cervical, vaginal, or vulvar cancer or lower genital tract dysplasia
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- Current biopsy-proven endometrial cancer or endometrial hyperplasia
- Current biopsy-proven benign endometrial polyp
- Endometrial biopsy/sampling within the preceding 1 month showing benign endometrium
- Undergoing surgical procedure for recurrent or metastatic EC
- Received preoperative neoadjuvant chemotherapy or radiotherapy for current EC diagnosis
- Prior hysterectomy
- Current known pregnancy diagnosis
- Prior or current biopsy-proven cervical cancer
- Presence of concomitant biopsy-proven cervical dysplasia
- Any prior pelvic or vaginal radiotherapy
- Any prior cancer (except basal cell skin cancer) within the past 5 years
- Chemotherapy within the past 5 years
- Prior intervention or surgery with intent to completely remove the target pathology
- History of pelvic or vaginal radiotherapy
- Prior total hysterectomy (cervix removed) for any indication
- Current known pregnancy diagnosis
- Cervical mass biopsy-proven to be EC or a cancer metastatic from a non-cervical origin
- Any prior cancer (except basal cell skin cancer) within the past 5 years
- Chemotherapy within the past 5 years
- Patients presenting for colposcopy as part of lower genital tract dysplasia or cancer surveillance after prior curative intent treatment and no current Pap abnormality or cervical mass
- Prior intervention or surgery with intent to completely remove the target pathology for the current lesion / diagnosis during the current episode
- Endometrial biopsy or office hysteroscopy within 2 weeks preceding the planned gynecologic surgery procedure for fibroids, endometriosis, benign endometrial polyps, or adenomyosis
- Any surgery within the past 3 months
- Prior hysterectomy
- Current known pregnancy diagnosis
- Prior or current biopsy-proven gynecologic cancer
- Current biopsy-proven AEH/EIN, cervical, vaginal, or vulvar dysplasia
- Prior pelvic or vaginal radiotherapy
- Any prior cancer (except basal cell skin cancer) within the past 5 years
- Chemotherapy within the past 5 years
- Undergoing hysterectomy for prolapse without a coexisting known or presumed benign uterine pathologic diagnosis of fibroids, endometriosis, benign endometrial polyps, or adenomyosis
- Prior intervention or surgery with intent to completely remove the target pathology for the current lesion / diagnosis during the current episode
- Pap test or cervical biopsy within the past 1 month
- Endometrial biopsy or office hysteroscopy within the past 1 month
- Any surgery within the past 3 months
- Prior hysterectomy
- Current known pregnancy diagnosis
- Prior or current biopsy-proven gynecologic cancer
- Current biopsy-proven AEH/EIN, cervical, vaginal, or vulvar dysplasia
- Prior pelvic or vaginal radiotherapy
- Any prior cancer (except basal cell skin cancer) within the past 5 years
- Chemotherapy within the past 5 years
- Criteria met for inclusion in any of the other study cohorts
- Any current or prior cancer diagnosis (except basal cell or squamous cell skin cancer, non-gyn)
- Chemotherapy for cancer treatment within the past 5 years prior to collection
- Clinically suspected advanced stage ovarian cancer (Stage III or IV) on presentation, if known prior to specimen collection
- Surgical candidates for recurrent ovarian cancer
- History of pelvic or vaginal radiation therapy
- Known current synchronous endometrial cancer or hyperplasia
- Known current cervical, vaginal, or vulvar dysplasia
- Patients with recurrent OC
- Any current or prior cancer diagnosis (except basal cell or squamous cell skin cancer, non-gyn) within the past 5 years
- Chemotherapy for cancer treatment within the past 5 years prior to collection
- History of pelvic or vaginal radiation therapy
- Known current synchronous endometrial cancer or hyperplasia
- Known current cervical, vaginal, or vulvar dysplasia
- Current known pregnancy diagnosis
Trial locations and contacts
25 sites in 1 country. Contact the study team or a site near you to ask about taking part.
25 sites in 1 country
United States25 sites, 21 recruiting
- Recruiting
Piedmont Healthcare
Atlanta, Georgia, 30318
Dionne Jean, CRC, 404-425-7927, dionne.jean@piedmont.org
Leda Portia A. Gattoc, M.D.
- Recruiting
University of Chicago
Chicago, Illinois, 60637
Calla O'Connor, MPH, calla.oconnor@bsd.uchicago.edu
Veronika Sesari, vseseri@bsd.uchicago.edu
- Recruiting
Cleveland Clinic
Cleveland, Ohio, 44195
Tori Carpenter, CRC, carpent3@ccf.org
Sarah Neale, CRC, neales@ccf.org
- Recruiting
Henry Ford Health
Detroit, Michigan, 48202
Omayma Al Jabiry, CRC, oaljab1@hfhs.org
Ishita Narula, CRC, inarula1@hfhs.org
- Recruiting
Mayo Clinic Health System - Northwest Wisconsin
Eau Claire, Wisconsin, 54703
Stephanie L Larson, ACRC, 715-838-1976, larson.stephanie3@mayo.edu
Christina M Scinto, ACRC, 715-464-8172, cinto.christina@mayo.edu
- Active, not recruiting
Providea Health Partners, LLC
Evergreen Park, Illinois, 60805
- Recruiting
Altru Health System
Grand Forks, North Dakota, 58206
Morgan Podell, CRC, 701-780-6161, mlpodell@altru.org
Alexis Tatum, CRC, 701-780-1563, atatum@altru.org
- Recruiting
Total Women's Care of the Heights
Houston, Texas, 77018
Tatiana Rivera, 346-330-5302, ma@twcheights.com
Vonne Jones, M.D.
- Recruiting
The Woman's Health Pavilion
Howard Beach, New York, 11414
Monica Martinez, CRC, 718-843-6300, mmartinez@ilovemygyn.com
Andre H. Saad, M.D.
- Recruiting
University of Mississippi Medical Center
Jackson, Mississippi, 39213
Adriana Dodson, RN, 601-984-1962, adodson2@umc.edu
Kenna H Nettles, PA-C, 601-815-5963, knettles1@umc.edu
- Recruiting
Mayo Clinic
Jacksonville, Florida, 32224
Ashley N Shelton, CRC, 504-953-1594, Shelton.Ashley@mayo.edu
Tri A. Dinh, M.D.
- Recruiting
Medical Colleagues of Texas, LLP
Katy, Texas, 77450
Erika Keller, CRC, 281-769-8674, erika.keller@elligodirect.com
Kelly A. McCullagh, M.D.
- Recruiting
Mayo Clinic Health System - Southwest Wisconsin
La Crosse, Wisconsin, 54601
Kate L Zboralski, ACRC, 608-392-9521, zboralski.kathryn@mayo.edu
Taylor Cammer, ACRC, 608-392-9280, cammer.taylor@mayo.edu
- Active, not recruiting
My GYN Care
Miami, Florida, 33156
- Recruiting
Genoma Research, Inc.
Miami, Florida, 33173
Laura Lucia, BHSc, CRC, 305-392-1264, lauralucia@genoma.comcastbiz.net
Guillermo Lievano, D.O.
- Active, not recruiting
Medical College of Wisconsin
Milwaukee, Wisconsin, 53226
- Recruiting
Ochsner Clinic Foundation
New Orleans, Louisiana, 70121
Ashley Samuel, CRC, 504-703-2658, ashley.samuel@ochsner.org
Veronica Hixon Calliet, BSN, 504-703-8602, veronica.hixoncalliet@ochsner.org
- Recruiting
Orlando Health
Orlando, Florida, 32806
Donya Shahnavaz, CRC, 321-841-7303, donya.shahnavaz@orlandohealth.com
Bianca Henry, CRC, bianca.henry@orlandohealth.com
- Active, not recruiting
Signature Women's Healthcare, LLC
Pembroke Pines, Florida, 33029
- Recruiting
Mayo Clinic
Phoenix, Arizona, 85054
Favy Trujillo, 480-574-1468, trujillo.faviola@mayo.edy
Kristina A. Butler, M.D.
- Recruiting
Virginia Commonwealth University/ Massey Cancer Center
Richmond, Virginia, 23219
Priyanka Doneparthi, CRC, doneparthip@vcu.edu
Morgan DeHart, CRC, 804-827-1266, dehart2@vcu.edu
- Recruiting
Mayo Clinic
Rochester, Minnesota, 55905
Maureen A Lemens, BSN, 507-293-1487, lemens.maureen@mayo.edu
Jamie N. Bakkum-Gamez, MD
- Recruiting
Valley OB-GYN Clinic
Saginaw, Michigan, 48602
Jacqueline Lang, CCRC, 989-272-9065, jacqueline.lang@elligodirect.com
Olivia A. Phifer-Combs, M.D.
- Recruiting
Sarasota Memorial Health Care System
Sarasota, Florida, 34239
Anna Turnbull, Anna-Turnbull@smh.com
Toni P Kilts, D.O.
- Recruiting
The Woman's Health Pavilion
Westbury, New York, 11590
Monica Martinez, CRC, 718-843-6300, mmartinez@ilovemygyn.com
Andre H. Saad, M.D.
About this study
Official title: Leveraging Methylated DNA Markers (MDMs) in the Detection of Endometrial Cancer, Ovarian Cancer, and Cervical Cancer: a Phase II Clinical Study
The overarching objective of this project is to develop a pan-gynecologic cancer detection test using gynecologic (unique endometrial, cervical, and ovarian cancer) cancer-specific methylated DNA markers and high-risk human papilloma virus (HR-HPV) detected in vaginal fluid and/or plasma.
This proposal defines Phase II MDM-based cancer detection studies in endometrial cancer (EC) and endometrial hyperplasia with atypia (AEH) in vaginal fluid and 2) ovarian cancer (OC) in plasma and vaginal fluid. Additionally, it defines necessary Phase I MDM-based cancer detection and exploratory aims to test novel cervical cancer (CC) MDMs and test the specificity of cancer-specific MDMs among various common benign gynecologic pathologies.er detection and exploratory aims to test novel cervical cancer MDMs and test the specificity of cancer-specific MDMs among various common benign gynecologic pathologies.
Read the detailed description
Detection of endometrial, ovarian, and cervical cancers at an early stage vastly increases the chances of cure and may also avert morbidity secondary to surgical staging, radiation, and/or chemotherapy. Despite the great successes of cervical cancer screening, comparable early detection methods for other gynecologic cancers and their precursors are not available. While nearly 1.5 million women per year in the United States are evaluated for abnormal uterine bleeding (AUB) or postmenopausal bleeding (PMB), the most common symptom of endometrial cancer, most undergo an invasive diagnostic biopsy with the finding of benign etiology.
Vaginal bleeding is often the only presenting symptom of women ultimately diagnosed with endometrial cancer (EC) or its precursor lesion, endometrial hyperplasia(EH). More than 90% of women with EC present with vaginal bleeding. Cervical cancer and cervical dysplasia can present as intermenstrual bleeding, post-coital bleeding, or other abnormal vaginal bleeding. However, most women who present with AUB or PMB have a benign etiology.
There are approximately 70 million women ≥45 years of age in the United States based on the most recent census data. Between 4-11% of women will be worked up for perimenopausal AUB or PMB in their lifetime. As only 5-10% of those women will have an EC or EH, there is a great clinical need for a less invasive clinical diagnostic test that can reliably distinguish between benign uterine bleeding and bleeding associated with an underlying endometrial cancer, cervical cancer, or a precursor lesion.
- Conditions
- Endometrial Cancer, Cervical Cancer, Atypical Endometrial Hyperplasia, Cervical Dysplasia, Adnexal Mass, Ovarian Cancer
- Being tested
- Vaginal Fluid Collection, Blood Collection
- Medical subject headings
- Endometrial Neoplasms, Uterine Cervical Neoplasms, Endometrial Hyperplasia, Uterine Cervical Dysplasia, Ovarian Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Vaginal Fluid CollectionDiagnostic test
Also called Vaginal Fluid
A sample of vaginal fluid will be collected from each participant, prior to any exams or procedures, by a healthcare provider using a small vaginal swab.
Blood CollectionDiagnostic test
A blood sample will be collected from each participant prior to undergoing any exams or procedures.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 - AUB / PMB | Patients ≥45 years of age, presenting with abnormal uterine bleeding (AUB) or post-menopausal bleeding (PMB). Patients ages 18 - 44 years of age, presenting with abnormal uterine bleeding (AUB) and a risk factor for endometrial cancer (BMI ≥30 or PCOS or Tamoxifen use). These presenting symptoms clinically warrant evaluation such as an endometrial biopsy to assess for underlying endometrial cancer, endometrial hyperplasia or other endometrial pathology. Receives: Diagnostic Test: Vaginal Fluid Collection; Diagnostic Test: Blood Collection | |
| Cohort 2 - Biopsy-proven EC or AEH or EIN | Patients ≥18 years of age with biopsy-proven endometrial cancer (EC), atypical endometrial hyperplasia (AEH), or endometrial intraepithelial neoplasia (EIN) presenting for surgical management of their endometrial pathology. Receives: Diagnostic Test: Vaginal Fluid Collection; Diagnostic Test: Blood Collection | |
| Cohort 3 - Cervix pathology | Patients ≥18 years of age presenting for a clinically indicated colposcopy, cervical biopsy, or surgical excision, as follow-up for an abnormal Pap test or cervical mass identified on physical exam. Final clinical diagnoses within this cohort may include mild cervical intraepithelial neoplasia (CIN 1), moderate and/or severe CIN (CIN 2/3), adenocarcinoma in situ (AIS), invasive cervical cancers (adenocarcinoma or squamous cell carcinoma), or possibly benign findings. Receives: Diagnostic Test: Vaginal Fluid Collection; Diagnostic Test: Blood Collection | |
| Cohort 4 - Benign Uterine Pathology | Patients with any of four benign gynecologic conditions including: uterine fibroids, benign endometrial polyps, adenomyosis and endometriosis. All patients enrolled in this cohort will be undergoing clinically indicated gynecologic surgery (hysterectomy, myomectomy, polypectomy, or laparoscopic tissue excision) for the specific benign gynecologic condition. Verification of the final benign diagnosis will be based on pathology diagnosis of clinically-indicated tissue removed during surgery. Receives: Diagnostic Test: Vaginal Fluid Collection; Diagnostic Test: Blood Collection | |
| Cohort 5 - Healthy Control Women | Healthy patients with a uterus, ≥45 years of age presenting for GYN wellness exam to serve as a control group. These patients will have no clinically evident gynecologic precancers, gynecologic cancers, or clinically evident or symptomatic benign gynecologic conditions. These patients will not have known or clinically suspected AUB, PMB, fibroids, endometriosis, benign endometrial polyps, or adenomyosis, nor will they have any active gynecologic or non-gynecologic acute medical conditions. Receives: Diagnostic Test: Vaginal Fluid Collection; Diagnostic Test: Blood Collection | |
| Cohort 6- Isolated Adnexal Mass Cohort (ovarian or fallopian mass) | Patients ≥50 years of age and postmenopausal (12 months since LMP or available blood hormone levels confirming postmenopausal status) and an isolated adnexal mass or isolated bilateral adnexal masses being surgically removed. These patients may have a final diagnosis of any of the following: benign ovarian neoplasm, borderline tumor of the ovary, or clinically early-stage OC. Receives: Diagnostic Test: Vaginal Fluid Collection; Diagnostic Test: Blood Collection | |
| Cohort 7 - OC Cohort - Biopsy proven or clinically suspected ovarian cancer (OC) | Patients ≥18 years of age with ovarian cancer (OC) (clinically probable based on distribution of pelvic/abdominal masses on imaging, elevated CA-125, ascites, and/or imaging-guided biopsy proven) presenting for neoadjuvant chemotherapy or primary surgical management (debulking or staging) of their OC. The umbrella of OC also includes fallopian tube cancer and primary peritoneal cancer. All histologies are eligible for enrollment. Receives: Diagnostic Test: Vaginal Fluid Collection; Diagnostic Test: Blood Collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Develop predictive models from a panel of EC-specific MDMs and validate their performance in identifying underlying EC and AEH within vaginal fluid in a larger, more diverse cohort.
Complete a phase II biomarker development study of a methylated DNA marker (MDM)-based endometrial cancer detection test performed on vaginal fluid. The phase II aspect of this biomarker development study will narrow the number of endometrial cancer MDMs within the biomarker panel in order to optimize the next phase of test development.
Measured: 18 months
Develop predictive models from a panel of OC-specific MDMs and validate their performance in identifying underlying OC within vaginal fluid and plasma in a larger, more diverse cohort.
Complete a phase II biomarker development study of a methylated DNA marker (MDM)-based ovarian cancer detection test performed on vaginal fluid. The phase II aspect of this biomarker development study will narrow the number of ovarian cancer MDMs within the biomarker panel in order to optimize the next phase of test development.
Measured: 18 months
Secondary outcomes (1)
Using 95% specificity cutoffs of the final MDM EC panel, determine the false positive rate among women undergoing surgical removal of common benign gynecologic pathology
As part of this biomarker test development, understanding whether common non-cancerous uterine or gynecologic conditions may also lead to the finding of currently apparent endometrial cancer-specific MDMs in vaginal fluid is critical in determining specificity, positive predictive value, and negative predictive value of the test.
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Sep 2021
- Study start3 Aug 2021
- Primary completion31 Dec 2026 (estimated)
- Study completion30 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Endometrial CancerStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 3,110 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jamie N. Bakkum-Gamez, M.D., Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05051722
- Sponsor's protocol ID
- 20-012833
- Acronym
- ECHO
- Status last verified
- Sep 2026
- First submitted
- 11 Sep 2021
- Last updated
- 29 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No