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

Diagnoses Disease Clinical Trial

Official title:

Phase III Diagnostic Trial for Early Detection of Endometrial/Ovarian Cancer and Hereditary Predisposition of These Cancers

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04891029
• Other study ID #: 2020-6430
• Status: Recruiting
• Phase: N/A
• Start date: May 10, 2021
• Est. completion date: April 2026

Study information

• Verified date: May 2024
• Source: McGill University
• Contact: Lucy Gilbert, MD
• Phone: 514-934-1934
• Email: gyne-oncologysec[@]mcgill.ca
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

Early stage high-grade cancer, endometrial and ovarian, has few, if any, symptoms or signs. When symptoms appear, the disease may be in advanced stage as the disease 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 deep machine-learning derived classifier that can discriminate the mutational signature of these cancers from benign disease with a sensitivity of 70% and a specificity of 100% in a population with high background mutational burden. In addition to the intra-uterine cytological sample, the test includes an assay of a saliva sample to identify germline mutations that predispose to hereditary endometrial/ovarian cancers as well as breast 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 3600
• Est. completion date: April 2026
• Est. primary completion date: November 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 45 Years to 75 Years

Eligibility

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

Related Conditions & MeSH terms

• Carcinoma, Ovarian Epithelial
• Diagnoses Disease
• Disease Susceptibility
• Ovarian Neoplasms

Intervention

Diagnostic Test:
• DOvEEgene test
Women participating in the study will undergo a genomic uterine pap test, DOvEEgene test, for the screening of ovarian and endometrial cancers

Locations

Country	Name	City	State
Canada	McGill University Health Centre, Royal Victoria Hospital	Montreal	Quebec
Canada	Queen Elizabeth Health Complex	Montréal	Quebec

Sponsors (5)

Lead Sponsor	Collaborator
McGill University	Genome Canada, Genome Quebec, McGill University Health Centre/Research Institute of the McGill University Health Centre, Research Institute of the McGill University Health Center

Country where clinical trial is conducted

Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Secondary	Identification of germline mutations	Detection of pathogenic germline mutations in participants' saliva sample to mitigate risks of other cancers (namely breast, ovarian, uterine and colon cancers) and diseases if participant opts for disclosure of results.	3 years
Secondary	Evaluate women's experience related to study procedures	Assess women's experience to the genomic uterine pap sampling process using an acceptability questionnaire. It is important the participant has a good experience with the sampling and healthcare professional.	3 years
Secondary	Evaluate effects on quality of life from study participation	We will assess effects on quality of life (QoL) to study participants, such as anxiety while awaiting results, interventions for false positives results and etc. via the SF-36 questionnaire.	3 years
Secondary	Evaluate costs of unnecessary intervention	We will track the cost of every intervention resulting from a positive test, till we determine whether it was a false positive or not. For instances of a false positive result, we will consider the associated costs via a health economics analysis.	3 years