Cancer Driving Mutations in Endometriosis Lesions and Development of Progesterone Resistance

NCT03756480 | Active Not Recruiting

• 2 other identifiers: IRB00188129R01HD096147
• Study Type: observational
• Target: 135
• Locations: 1 country
• Sites: 3

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.

Conditions

Endometriosis; Endometrial Diseases

Keywords

Endometriosis

Outcome Measures

Primary Outcomes (1)

• Number of somatic cancer driver mutations in progesterone-resistant versus progesterone-sensitive endometriosis lesions.

  Digital droplet PCR will be used to identify somatic cancer-driver mutations with the presence of at least one of KRAS or ARID1A or PIK3CA or PPP2R1A cancer-driver mutations to assess any difference between progesterone-resistant endometriosis and progesterone-sensitive endometriosis.

  Six month

Secondary Outcomes (2)

• Number of cancer driver mutations in eutopic versus ectopic endometrial tissue in control versus diseased subjects

  Six month

• Difference in DNA methylation PCR profile of endometriotic lesions in ectopic versus eutopic endometrium in control versus diseased subjects.

  One month

Study Arms (2)

Case Group

Clinical or surgical diagnosis of Endometriosis, patients undergoing surgical management 100 participants

Control Group

No diagnosis of Endometriosis, Patients undergoing Laparoscopic Tubal Ligation 35 participants

Eligibility Criteria

• Age: 18 Years - 45 Years
• Sex: female
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Women between the ages of 18-45 undergoing surgical management for endometriosis as cases and women between ages of 18-45 years undergoing elective tubal ligation and no diagnosis of endometriosis.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Johns Hopkins University: lead
• National Institutes of Health (NIH): collaborator
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator

Study Sites (3)

Yale School of Medicine

New Haven, Connecticut, 06510, United States

Location

Johns Hopkins Hospital

Baltimore, Maryland, 21218, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Endometrial tissue from ectopic and eutopic sites and blood sample.

MeSH Terms

Conditions

Endometriosis; Uterine Diseases

Condition Hierarchy (Ancestors)

Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases

Study Officials

• James Segars, MD, FACOG

  Professor

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 27, 2018
• First Posted: November 28, 2018
• Study Start: October 1, 2020
• Primary Completion: October 1, 2024
• Study Completion (Estimated): October 1, 2026
• Last Updated: June 26, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)