Cancer Driving Mutations in Endometriosis Lesions and Development of Progesterone Resistance

NCT ID: NCT03756480

Last Updated: 2025-06-26

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 135 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2020-10-01
• Study Completion Date: 2026-10-01

Brief Summary

This study will test the hypothesis that the molecular changes present in ectopic endometriosis lesions correlate with progesterone-resistant disease (using the criteria defined in this study) and are present in matched eutopic endometrium.

Detailed Description

Tissues from 100 patients with endometriosis will be analyzed with droplet digital PCR (ddPCR) targeted sequencing and responders (n=50) will be compared to non-responders (n=50) after controlling confounding factors.

From a subset of the 100 cases, whole exome sequencing (WES) and Methylation-Specific PCR (MSP)-based methylation profiling on microdissected epithelium and stroma will be performed in matched eutopic and ectopic tissues from 20 patients with known cancer-associated mutations or 20 controls.

Conditions

Endometriosis; Endometrial Diseases

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Case Group

Clinical or surgical diagnosis of Endometriosis, patients undergoing surgical management

100 participants

No interventions assigned to this group

Control Group

No diagnosis of Endometriosis, Patients undergoing Laparoscopic Tubal Ligation

35 participants

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Signed informed consent.
• Gender: female.
• Age: 18-45 years at the time of signing consent.
• Clinical or surgical diagnosis of endometriosis undergoing laparoscopy.
• Controls may not have clinical or surgical diagnosis of endometriosis.
• Regular menstrual cycles.
• BMI between 18-40 kg/m2.
• Sexually active or have had a previous vaginal exam that used a speculum.
• English speaking

Exclusion Criteria

• Use of any kind of steroidal therapy including oral contraceptives, Norplant, estrogen replacement/supplemental therapy, androgens (Danazol, Cyclomen, Danocrine, testosterone) or progesterone. She may not be taking or be on Celebrex.
• Pregnant.
• Presence of pelvic infection.
• Mullerian anomalies with absence of a cervix.
• History of cancer of the reproductive tract.
• Presence of undiagnosed uterine bleeding.
• Treatment with intrauterine device (IUD) or progestin-containing intrauterine device.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 45 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

National Institutes of Health (NIH)

NIH

Sponsor Role: collaborator

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

NIH

Sponsor Role: collaborator

Johns Hopkins University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

James Segars, MD, FACOG

Role: PRINCIPAL_INVESTIGATOR

Professor

Locations

Yale School of Medicine

New Haven, Connecticut, United States

Johns Hopkins Hospital

Baltimore, Maryland, United States

Vanderbilt University Medical Center

Nashville, Tennessee, United States

Countries

United States

Other Identifiers

R01HD096147

Identifier Type: NIH

Identifier Source: secondary_id

View Link

IRB00188129

Identifier Type: -

Identifier Source: org_study_id