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| ID | Type | Description | Link |
|---|---|---|---|
| R01HD096147 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
| Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | NIH |
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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.
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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | Six month |
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Inclusion Criteria:
Exclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| James Segars, MD, FACOG | Professor | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Yale School of Medicine | New Haven | Connecticut | 06510 | United States | ||
| Johns Hopkins Hospital |
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| ID | Term |
|---|---|
| D004715 | Endometriosis |
| D014591 | Uterine Diseases |
| ID | Term |
|---|---|
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
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Endometrial tissue from ectopic and eutopic sites and blood sample.
| 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. |
| One month |
| Baltimore |
| Maryland |
| 21218 |
| United States |
| Vanderbilt University Medical Center | Nashville | Tennessee | 37232 | United States |
| D000091662 | Genital Diseases |