Genomic Maps of Endometrial Tissues of Patients With Endometriosis and Healthy Controls

Comparison of Genomic Maps of Endometrial Tissues of Patients With Endometriosis and Healthy Controls Via Nanochannel Technique and Proteomic-genomic Analyzes.

Endometriosis is a chronic inflammatory disease that affects 10-17% of women in childbearing age, 35-60% of women with chronic pelvic pain and can cause infertility, costing as much as 2.8 billion dollars per year. For this reason, every step taken in diagnosis and treatment is of great importance both materially and spiritually. Patients can be diagnosed about 8-9 years after the onset of their complaints due to inadequacy of diagnostic methods In the study, it is decided to look at the basis of the disease, endometrial cells. And aimed to find the difference between the two women who are thought to be no different from each other among our current knowledge but one has endometriosis while other have not.

Study Overview

• Status: Unknown
• Conditions: Endometriosis; Endometrioma
• Intervention / Treatment: Diagnostic test: genetic testing with nanoclonal technique

Detailed Description

Endometriosis is the appearance of a tissue similar to the endometrium in the ovaries, large intestine, and many other organ walls, except the uterus. The reason is unknown yet. Severe periodic pain, infertility, and pain during intercourse, affects approximately 2 million women in Turkey on average, 10% of women around the world. Endometriosis is a chronic inflammatory disease that affects 10-17% of women in childbearing age, 35-60% of women with chronic pelvic pain and can cause infertility, costing as much as 2.8 billion dollars per year. For this reason, every step taken in diagnosis and treatment is of great importance both materially and spiritually. Patients can be diagnosed about 8-9 years after the onset of their complaints due to the inadequacy of diagnostic methods In the study, it is decided to look at the basis of the disease, endometrial cells. And aimed to find the difference between the two women who are thought to be no different from each other among our current knowledge but one has endometriosis while others have not. For this reason, mapping of all genomes with the nanoclonal technique, the most advanced genetic screening method currently available from endometrial samples of patients and healthy women, is to identify the possible copy numbers, translocation, insertion and inversion anomalies, and to name them functionally by proteomic analysis. We believe that the results obtained from our study will guide the diagnostic tests and possible gene therapy in the future.

• Study Type: Observational
• Enrollment (Anticipated): 60

Contacts and Locations

• Study Contact: Name: Bahar Yuksel, md; Phone Number: 05424732003; Email: baharyl86@gmail.com
• Study Contact Backup: Name: ercan bastu, md; Email: ercanbastu@gmail.com

Study Locations

• Turkey
  • Istanbul, Turkey, 34104
    • Recruiting
    • Bahar Yuksel

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 50 years (Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Study Population

patients who are :

• surgically diagnosed with endometriosis disease
• have no diagnosıs for malignancy
• gave informed consent for application to the study enrolle as patient group

females

• between 18-45 years old
• without any health conditions
• applied to the clinic for routine checkups are going to be taken as the control group

Description

Inclusion Criteria:

surgically diagnosed with endometriosis disease

• no diagnosıs for malignancy
• gave informed consent for application to the study enrolle as patient group females
• between 18-45 years old
• without any health conditions
• applied to the clinic for routine checkups for control group

Exclusion Criteria:

• being diagnosed with any kind of malignancy having trouble with endometrial cavity sampling

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
control; does not have endometriosis or related diseases and not under any drug therapy does not have any benign or malign disease	Diagnostic test: genetic testing with nanoclonal technique; endometrial sampling
patient; has laparoscopically proven endometriosis	Diagnostic test: genetic testing with nanoclonal technique; endometrial sampling

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
diagnostic testing	finding a genetic difference which specifically preserved in endometriosis patients but not in healthy controls. To analyse the different region on chromosomes and name the pathophysiology underlying it	2 years

Collaborators and Investigators

• Sponsor: Acibadem University
• Investigators: Study Director: Bahar Yuksel, MD

Publications and helpful links

General Publications

• Cao H, Hastie AR, Cao D, Lam ET, Sun Y, Huang H, Liu X, Lin L, Andrews W, Chan S, Huang S, Tong X, Requa M, Anantharaman T, Krogh A, Yang H, Cao H, Xu X. Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology. Gigascience. 2014 Dec 30;3(1):34. doi: 10.1186/2047-217X-3-34. eCollection 2014.
• Kobayashi H, Imanaka S, Nakamura H, Tsuji A. Understanding the role of epigenomic, genomic and genetic alterations in the development of endometriosis (review). Mol Med Rep. 2014 May;9(5):1483-505. doi: 10.3892/mmr.2014.2057. Epub 2014 Mar 14.

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2018
• Primary Completion (Anticipated): August 1, 2020
• Study Completion (Anticipated): September 1, 2020

Study Registration Dates

• First Submitted: September 16, 2018
• First Submitted That Met QC Criteria: September 25, 2018
• First Posted (Actual): September 27, 2018

Study Record Updates

• Last Update Posted (Actual): July 9, 2019
• Last Update Submitted That Met QC Criteria: July 6, 2019
• Last Verified: July 1, 2019

More Information

Terms related to this study

• Keywords: endometriosis; genetic analysis; nanoclonal; copy number
• Additional Relevant MeSH Terms: Endometriosis
• Other Study ID Numbers: AcibademU endo

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No