Research OutSmarts Endometriosis II Study

NCT05601596 | Enrolling By Invitation DMC

• 1 other identifier: 22-0346
• Study Type: observational
• Target: 185
• Locations: 1 country
• Sites: 1

Brief Summary

This product will be used as a diagnostic test to screen for the likelihood of endometriosis in menstruating adults with symptoms suggestive of endometriosis. The purpose of the test will be to guide clinical decisions regarding: 1) whether to undergo diagnostic laparoscopy to confirm the presence of endometriosis (currently, the gold standard for diagnosing endometriosis) and/or 2) how to guide the choice of hormonal or other therapies to treat symptoms of endometriosis.

Conditions

Endometriosis

Keywords

Diagnosis

Outcome Measures

Primary Outcomes (1)

• ROSE II: Pilot study to analyze menstrual blood to predict endometriosis

  The investigators will utilize single cell RNA sequencing analysis of stromal cells and uNK cells in menstrual effluent in order to define cellular and gene expression phenotypes that have been shown to be highly correlated with the presence of endometriosis

  2 years

Secondary Outcomes (1)

• ROSE II: Pilot study to assess the progesterone sensitivity or resistance of cultured endometrial stromal cells

  2 years

Study Arms (2)

Control Participant

Having No symptoms of Endo. Provide Menstrual samples.

Diagnostic Test: Analysis of menstrual blood to predict endometriosis

Symptomatic participant

Having symptoms of Endo and heading to diagnostic surgery as part of their standard of care (referred).

Diagnostic Test: Analysis of menstrual blood to predict endometriosis

Interventions

Analysis of menstrual blood to predict endometriosis DIAGNOSTIC_TEST

Menstrual blood from controls and symptomatic cases will be analyzed using single cell RNA-sequencing to develop a panel of biomarkers that can be developed into a screening test or diagnostic test for endometriosis.

Control Participant; Symptomatic participant

Eligibility Criteria

• Age: 18 Years - 40 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

The cohort will enroll a total of 185 menstruating individuals in total; 80 control subjects who self-report the general absence of symptoms of endometriosis and 105 symptomatic cases who report chronic symptoms\* of endometriosis but who have not yet been diagnosed and are seeking physician evaluation for their symptoms.

You may qualify if:

• For All
• to 40 year old menstruating women (continue to get cycles)
• More than a light menstrual flow (light flow is soaking less than 1 thin pad or light tampon in 4 hours at peak flow)
• Willingness to provide two menstrual samples across two separate menstrual cycles.
• Willingness to provide a DNA sample (obtained via menstrual blood or cheek swab)
• For Controls:
• General Absence of \*symptoms suggestive of endometriosis which includes: 1-Chronic pelvic pain 2-Painful menses 3-Pain during intercourse 4-Pain going to the bathroom 5-Abdominal bloating (BUT MUST NOT Include): 6-Report of missed days of work, school, athletic,social and/or other activities due to related pain and discomfort
• For Symptomatic:
• Consistently Experiencing chronic symptoms of endometriosis\*
• Without definitive diagnosis
• Seeking physician evaluation (considered by physician to be a candidate for laproscopic surgery
• Willingness to provide one of the menstrual samples PRIOR to planned surgery
• Surgical and pathological confirmation of endo (or NOT)

You may not qualify if:

• For All:
• under age 18 or over 40 years
• Unable/unwilling to provide a menstrual sample
• Light menstrual flow (light flow is soaking less than 1 thin pad or light tampon in 4 hours at peak flow)
• Diagnosed with endometriosis
• CONTROL:
• More than 1 symptom of endometriosis\*
• Report of missed days of work, school, athletic, social and/or other activities due to related pain and discomfort
• Symptomatic:
• Unable to provide a menstrual sample prior to surgery

Sponsors & Collaborators

• Northwell Health: lead

Study Sites (1)

Feinstein Institutes/Northwell health

Manhasset, New York, 11030-3816, United States

Location

Related Publications (9)

• Aghajanova L, Giudice LC. Molecular evidence for differences in endometrium in severe versus mild endometriosis. Reprod Sci. 2011 Mar;18(3):229-51. doi: 10.1177/1933719110386241. Epub 2010 Nov 9.

  PMID: 21063030 BACKGROUND

• Ballard K, Lowton K, Wright J. What's the delay? A qualitative study of women's experiences of reaching a diagnosis of endometriosis. Fertil Steril. 2006 Nov;86(5):1296-301. doi: 10.1016/j.fertnstert.2006.04.054.

  PMID: 17070183 BACKGROUND

• Brosens I, Brosens JJ, Benagiano G. The eutopic endometrium in endometriosis: are the changes of clinical significance? Reprod Biomed Online. 2012 May;24(5):496-502. doi: 10.1016/j.rbmo.2012.01.022. Epub 2012 Jan 31.

  PMID: 22417665 BACKGROUND

• Bulun SE, Cheng YH, Yin P, Imir G, Utsunomiya H, Attar E, Innes J, Julie Kim J. Progesterone resistance in endometriosis: link to failure to metabolize estradiol. Mol Cell Endocrinol. 2006 Mar 27;248(1-2):94-103. doi: 10.1016/j.mce.2005.11.041. Epub 2006 Jan 10.

  PMID: 16406281 BACKGROUND

• Chehna-Patel N, Sachdeva G, Gajbhiye R, Warty N, Khole V. "Spot"-ting differences between the ectopic and eutopic endometrium of endometriosis patients. Fertil Steril. 2010 Nov;94(6):1964-71, 1971.e1. doi: 10.1016/j.fertnstert.2010.01.048. Epub 2010 Mar 16.

  PMID: 20236630 BACKGROUND

• Drury JA, Parkin KL, Coyne L, Giuliani E, Fazleabas AT, Hapangama DK. The dynamic changes in the number of uterine natural killer cells are specific to the eutopic but not to the ectopic endometrium in women and in a baboon model of endometriosis. Reprod Biol Endocrinol. 2018 Jul 18;16(1):67. doi: 10.1186/s12958-018-0385-3.

  PMID: 30021652 BACKGROUND

• Dunselman GA, Vermeulen N, Becker C, Calhaz-Jorge C, D'Hooghe T, De Bie B, Heikinheimo O, Horne AW, Kiesel L, Nap A, Prentice A, Saridogan E, Soriano D, Nelen W; European Society of Human Reproduction and Embryology. ESHRE guideline: management of women with endometriosis. Hum Reprod. 2014 Mar;29(3):400-12. doi: 10.1093/humrep/det457. Epub 2014 Jan 15.

  PMID: 24435778 BACKGROUND

• Johnston JL, Reid H, Hunter D. Diagnosing endometriosis in primary care: clinical update. Br J Gen Pract. 2015 Feb;65(631):101-2. doi: 10.3399/bjgp15X683665. No abstract available.

  PMID: 25624305 BACKGROUND

• International working group of AAGL, ESGE, ESHRE and WES; Tomassetti C, Johnson NP, Petrozza J, Abrao MS, Einarsson JI, Horne AW, Lee TTM, Missmer S, Vermeulen N, Zondervan KT, Grimbizis G, De Wilde RL. An International Terminology for Endometriosis, 2021. J Minim Invasive Gynecol. 2021 Nov;28(11):1849-1859. doi: 10.1016/j.jmig.2021.08.032. Epub 2021 Oct 21.

  PMID: 34690084 BACKGROUND

Related Links

• Menstrual Effluent Provides a Novel Diagnostic Window on the Pathogenesis of Endometriosis
• Single cell analysis of menstrual endometrial tissues defines phenotypes associated with endometriosis
• Analysis of menstrual effluent: diagnostic potential for endometriosis

Biospecimen

Retention: SAMPLES WITH DNA

Menstrual effluent sample Optional peripheral blood sample 1 x 10 ml EDTA tube

MeSH Terms

Conditions

Endometriosis; Disease

Condition Hierarchy (Ancestors)

Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Peter K Gregersen, MD

  Northwell Health

  PRINCIPAL INVESTIGATOR

• Christine N Metz, PhD

  Northwell Health

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor and Director, Robert S. Boas Center for Genomics and Human Genetics

Study Record Dates

• First Submitted: August 4, 2022
• First Posted: November 1, 2022
• Study Start: May 27, 2022
• Primary Completion: June 1, 2025
• Study Completion: June 1, 2025
• Last Updated: March 13, 2025

Record last verified: 2025-03

Locations

US (1)