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

NCT ID: NCT04891029

Last Updated: 2025-06-17

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 5600 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-05-10
• Study Completion Date: 2028-11-30

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

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: SCREENING
• Blinding Strategy: NONE

Interventions

DOvEEgene 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).

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

• Capacity to understand study and provide informed consent

Exclusion Criteria

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

• Minimum Eligible Age: 45 Years
• Maximum Eligible Age: 75 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: Yes

Sponsors

Genome Canada

OTHER

Sponsor Role: collaborator

Genome Quebec

OTHER

Sponsor Role: collaborator

Research Institute of the McGill University Health Center

UNKNOWN

Sponsor Role: collaborator

McGill University Health Centre/Research Institute of the McGill University Health Centre

OTHER

Sponsor Role: collaborator

McGill University

OTHER

Sponsor Role: lead

Responsible Party

Dr. Lucy Gilbert

Professor Department of Obstetrics & Gynecology and Department of Oncology

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

McGill University Health Centre, Royal Victoria Hospital

Montreal, Quebec, Canada

Site Status: RECRUITING

Queen Elizabeth Health Complex

Montreal, Quebec, Canada

Site Status: RECRUITING

Countries

Canada

Central Contacts

Lucy Gilbert, MD

Role: CONTACT

gyne-oncologysec@mcgill.ca

514-934-1934 ext. 34049

Facility Contacts

Lucy Gilbert, MD,MSc,FRCOG

Role: primary

lucy.gilbert@mcgill.ca

514-934-1934 ext. 34049

Claudia Martins, MD, PhD

Role: backup

claudia.martins@mcgill.ca

514-934-1934 ext. 36794

Lucy Gilbert, MD

Role: primary

gyne-oncologysec@mcgill.ca

514-934-1934 ext. 34049

Other Identifiers

2020-6430

Identifier Type: -

Identifier Source: org_study_id