Early Detection of Endometrial/Ovarian Cancer and Hereditary Predisposition of These Cancers

NCT04891029 | Recruiting DMC

• 1 other identifier: 2020-6430
• Study Type: interventional
• Target: 5,600
• Locations: 1 country
• Sites: 2

Brief Summary

Early stage high-grade cancer, endometrial and ovarian, has few, if any, symptoms or signs. When symptoms appear, the disease is commonly in advanced stage meaning it has left the gynaecological organs and metastasized to the pelvic/abdominal cavity. The McGill research group had showed in the DOvEE trial (NCT02296307), that fast-track assessment with transvaginal ultrasound scans (TVUS) and serial CA125 of women with vague symptoms associated with ovarian and endometrial cancer did diagnose these cancers earlier in the disease trajectory, with low-volume resectable disease, but only after the cancer had already become Stage III. One way to detect these cancers earlier is to screen asymptomatic women. Unfortunately, none of the currently available tests, including TVUS and CA-125 have been shown to be useful for screening for ovarian or endometrial cancer. The McGill team has developed a genomic assay to screen and detect these cancers earlier in the trajectory than is currently the case. The test identifies pathogenic somatic mutations (necessary early steps in the development of these cancers), in an uterine cytological sample. It is able to do so by incorporating a machine-learning derived classifier that can discriminate the mutational signature of these cancers from benign disease with a sensitivity of 80% and a specificity of 100% in a healthy population of peri- and post-menopausal women. In addition to the uterine sample, the test includes a saliva sample that acts as an internal control but can also identify germline pathogenic variants that predispose to hereditary endometrial/ovarian cancers as well as breast, pancreas, and colon cancers. The test was developed in a retrospective population in whom the assay was done pre-operatively and the diagnosis of malignancy versus benign gynecological disease was confirmed by detailed pathological analysis of the uterus, tubes, and ovaries after surgical resection (NCT02288676). The test is now ready to be tested as a phase III diagnostic test in the general population to see if these results are just as promising in the community at large.

Conditions

Diagnoses Disease

Keywords

Ovarian Cancer; Endometrial Cancer; Genomics; Screening; Early detection

Outcome Measures

Primary Outcomes (2)

• Early diagnosis of ovarian and endometrial cancers

  Through the identification of pathogenic somatic mutations in uterine pap sample in combination with an established machine learning algorithm, the team will discriminate cancer from benign disease in participant samples.

  3 years

• Identification of germline mutations

  To determine the proportion of the study population who are carriers of clinically significant pathogenic germline mutations.

  3 years

Secondary Outcomes (3)

• Evaluate women's experience related to study procedures

  3 years

• Evaluate effects on quality of life from study participation

  3 years

• Evaluate costs of unnecessary intervention

  3 years

Interventions

DOvEEgene test DIAGNOSTIC_TEST

Women participating in the study will undergo a genomic uterine pap test, DOvEEgene test, for the screening of ovarian and endometrial cancers. Clinical tests will also be administered as a comparator (CA-125 blood test and TVUS).

Eligibility Criteria

• Age: 45 Years - 75 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• \- Capacity to understand study and provide informed consent

You may not qualify if:

• Prior hysterectomy
• Be pregnant
• Be nursing
• Be undergoing any fertility treatment
• Have had recent history of uterine perforation

Sponsors & Collaborators

• McGill University: lead
• Genome Canada: collaborator
• Genome Quebec: collaborator
• Research Institute of the McGill University Health Center: collaborator
• McGill University Health Centre/Research Institute of the McGill University Health Centre: collaborator

Study Sites (2)

McGill University Health Centre, Royal Victoria Hospital

Montreal, Quebec, H4A 3J1, Canada

RECRUITING

Queen Elizabeth Health Complex

Montreal, Quebec, H4A 3K6, Canada

RECRUITING

MeSH Terms

Conditions

Ovarian Neoplasms; Endometrial Neoplasms

Condition Hierarchy (Ancestors)

Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Endocrine System Diseases; Gonadal Disorders; Uterine Neoplasms; Uterine Diseases

Central Study Contacts

Lucy Gilbert, MD

CONTACT

514-934-1934; gyne-oncologysec@mcgill.ca

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor Department of Obstetrics & Gynecology and Department of Oncology

Study Record Dates

• First Submitted: May 7, 2021
• First Posted: May 18, 2021
• Study Start: May 10, 2021
• Primary Completion: November 1, 2025
• Study Completion (Estimated): November 1, 2028
• Last Updated: June 17, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

CA (2)