EndometriosisNCT03756480
Cancer Driving Mutations in Endometriosis Lesions and Development of Progesterone Resistance
An observational study of Endometriosis and Endometrial Diseases, run by Johns Hopkins University at 3 sites in United States.
Trial 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 more about this study
- Who is it for?
- Ages 18 to 45 years, women only
- Conditions the study is for
- Endometriosis, Endometrial Diseases
- How many people
- 135 participants
- Where
- 3 sitesUnited States
- Study dates
- 1 Oct 2020to 1 Oct 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 45 years
- Women only
- Adult
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.
Who may be able to join
- 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.
Show all 9Show fewer
- BMI between 18-40 kg/m2.
- Sexually active or have had a previous vaginal exam that used a speculum.
- English speaking
Who cannot join
- 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.
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Johns Hopkins Hospital
Baltimore, Maryland, 21218
Vanderbilt University Medical Center
Nashville, Tennessee, 37232
Yale School of Medicine
New Haven, Connecticut, 06510
About this study
Official title: Prospective Clinical Study of the Relationship Between Cancer Driving Mutations Found in Endometriotic Implants and the Development of Progesterone Resistance
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.
- Conditions
- Endometriosis, Endometrial Diseases
- Keywords
- Endometriosis
- Medical subject headings
- Endometriosis, Uterine Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of somatic cancer driver mutations in progesterone-resistant versus progesterone-sensitive endometriosis lesions.
Whole exome sequencing 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.
Measured: Six month
Secondary outcomes (2)
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 Twist exome 2.0 to assess the number of cancer driver mutations.
Measured: Six month
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 a subset cases and controls will be done using Zymo-Seq Trio WGBS Library Kit (D5462) \& Methyl Direct kit (D5020) to assess for any difference.
Measured: Six month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Nov 2018
- Study start1 Oct 2020
- Primary completion1 Oct 2024
- Study completion1 Oct 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for EndometriosisStudies of the same condition, open and under way.
- More trials run by Johns Hopkins UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 135 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Johns Hopkins University
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Responsible party
- Sponsor
- Investigators
- James Segars, MD, FACOG, Principal investigator, Professor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03756480
- Sponsor's protocol ID
- IRB00188129
- Other IDs
- R01HD096147
- Status last verified
- Oct 2026
- First submitted
- 27 Nov 2018
- Last updated
- 14 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Clinical Study of the Relationship Between Cancer Driving Mutations Found in Endometriotic Implants and the Development of Progesterone Resistance
- ClinicalTrials.gov ID
- NCT03756480
- Acronym / sponsor ID
- IRB00188129
- Conditions
- Endometriosis, Endometrial Diseases
- Keywords
- Endometriosis
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 135 participants (estimated)
- Lead sponsor
- Johns Hopkins UniversityUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study start
- 1 Oct 2020 (actual)
- Primary completion
- 1 Oct 2024 (actual)
- Study completion
- 1 Oct 2027 (estimated)
- First posted
- 28 Nov 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 18 to 45 years
- Sex
- Female only
- Age groups
- Adult
- 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.
Key inclusion criteria (9 listed)
- 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.
Key exclusion criteria (7 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of somatic cancer driver mutations in progesterone-resistant versus progesterone-sensitive endometriosis lesions.
Time frame: Six month
Whole exome sequencing 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.
2 secondary outcomes
Number of cancer driver mutations in eutopic versus ectopic endometrial tissue in control versus diseased subjects
Time frame: Six month
Difference in DNA methylation PCR profile of endometriotic lesions in ectopic versus eutopic endometrium in control versus diseased subjects.
Time frame: Six month
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Oct 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
James Segars, MD, FACOG principal investigator
Professor
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Endometriosis and Endometrial Diseases, run by Johns Hopkins University at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 14 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of somatic cancer driver mutations in progesterone-resistant versus progesterone-sensitive endometriosis lesions. (time frame: Six month). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Oct 2026.