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Active, not recruitingNCT03756480Updated Jun 9, 2026

Cancer Driving Mutations in Endometriosis Lesions and Development of Progesterone Resistance

An observational study in Endometriosis and Endometrial Diseases, sponsored by Johns Hopkins University. Active, not recruiting at 3 sites in United States. Open to female participants aged 18 Years to 45 Years. Per ClinicalTrials.gov, last updated 2026-06-09.

Sponsored by Johns Hopkins University · Observational

Study type
Observational
Model
Case-control
Time perspective
Prospective
Enrollment
135
Ages
18 Years to 45 Years
Sex
Female
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Study 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.

Read the 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.

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Conditions studied

  • Endometriosis
  • Endometrial Diseases

Keywords

  • Endometriosis
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In context

Endometriosis

901 studies on the registry are indexed under Endometriosis; 259 are open to participants now.

This study's planned enrollment of 135 is close to the median of 128 across 344 observational studies indexed under Endometriosis.

Browse Endometriosis studies →

Lead sponsor

Johns Hopkins University is the lead sponsor of 1,783 studies on the registry; 313 are open to participants now.

Of its 203 completed or terminated interventional studies of FDA-regulated products, 140 (69%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
18 Years to 45 Years
Sexes eligible
Female
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.

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

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.
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Study design

Observational model
Case-control
Time perspective
Prospective
Enrollment
135 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • 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

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What researchers measure

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.

    Time frame: Six month

Secondary outcomes

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

    Whole exome sequencing in a subset of patients with progesterone-resistant disease and controls will be done using TruSeq Amplicon Cancer Panel (Illumina) to assess the number of cancer driver mutations.

    Time frame: Six month

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

    DNA methylation profile of eutopic and ectopic endometrial tissue for cases and controls will be done using Raw Illumina 450K methylation array to assess for any difference.

    Time frame: One month

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Study locations

3 sites
  • Yale School of Medicine
    New Haven, Connecticut 06510, United States
  • Johns Hopkins Hospital
    Baltimore, Maryland 21218, United States
  • Vanderbilt University Medical Center
    Nashville, Tennessee 37232, United States
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References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jun 9, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT03756480
Lead sponsor
Johns Hopkins University
Collaborators
National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Responsible party
Sponsor
First posted
Nov 28, 2018
Start date
Oct 1, 2020
Primary completion
Oct 1, 2024
Completion
Oct 1, 2026 (estimated)
Last update
Jun 9, 2026

Study contacts

James Segars, MD, FACOG
principal investigator · Professor

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is active, not recruiting, as verified in Jun 2026. You cannot join it, but the record below documents what was studied.

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