RNA Assays for Endometriosis Detection and Diagnosis (RNA-EndoDx)

Development and Evaluation of RNA-based Markers for Detecting and Diagnosing Endometriosis

Endometriosis is a common disease that affects up to 10% of women of reproductive age. Diagnosis, however, is typically delayed (up to 12 years) and is usually made after surgery. A key unmet need therefore is an accurate biomarker that can be used to detect the disease early. This study is a prospective trial to identify candidate mRNA-markers which can be used to aid in the diagnosis of this disease. It is a discovery/validation study that will identify and confirm a gene expression panel that is specific for endometriosis and provides a non-invasive tool for future use.

Study Overview

• Status: Enrolling by invitation
• Conditions: Endometriosis
• Intervention / Treatment: Diagnostic test: EndoDx

Detailed Description

Endometriosis is a common disease that affects up to 10% of women of reproductive age. Diagnosis, however, is typically delayed (up to 12 years) and is typically made after surgery. A key unmet need therefore is an accurate, non-invasive biomarker that can be used to detect the disease early.

We hypothesize that endometriosis-related circulating gene expression can be identified using transcriptomic and bioinformatics approaches and used to construct an accurate diagnostic tool for this condition.

The primary objective is to develop a gene signature that detects endometriosis. The hypothesis is that this disease is characterized by a set of genes that characterize endometriosis tumor biology.

The aim is to detect over-expressed genes (elevated mRNA expression) in endometriosis tissue. The goal is to identify 10-25 biomarker genes that are highly expressed to form a candidate biomarker panel.

Highly expressed genes will be determined against samples collected from age/menstrual stage matched controls. A bio-informatics approach will be used to identify these over-expressed genes. This form the basis of a potential diagnostic panel.

Per PICOT criteria:

• The target patient population are women aged 20-35 years with a pathological diagnosis of endometriosis.
• The intervention is sample collection at the time of diagnosis (tissue, blood, saliva)
• The comparison group are normo-ovulatory subjects (age 20-25 years) undergoing surgery for benign cervical lesions.
• The outcome is a gene signature that is associated with endometriosis.
• The follow-up time is one year.

The secondary objective is to test the diagnostic utility of the 10-25 gene panel. This will be undertaken using the retrospectively collected samples.

• Each of the highly expressed genes will be measured and quantified using an RT-PCR approach.
• Genes that are statistically over-expressed in the endometriosis samples will be selected for a PCR panel.
• The expression of genes in the PCR panel will be scored.
• Low scores will be related to "control" and higher scores to "endometriosis".
• The scores will be formally evaluated as a diagnostic (area under the curve analysis, accuracy, sensitivity and specificity metrics).
• A specific comparison will be made between the endometriosis cohort and the control cohort.

• The metrics for a successful assay are:

  • Accuracy >80%
  • Sensitivity >90%
  • Specificity >85%
  • AUC >0.8

• Study Type: Observational
• Enrollment (Estimated): 400

Contacts and Locations

Study Locations

• South Africa
  • Cape Town, South Africa
    • University of Cape Town
• United States
  • Connecticut
    • Branford, Connecticut, United States, 06405
      • Wren Laboratories

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

Women with high suspicion of endometriosis and women undergoing surgery for benign cervical disease.

Description

Inclusion Criteria:

For the endometriosis cohort

• a history of infertility more than 1 year
• age 20-35 years
• normal liver and kidney function, without gynaecological and other systemic disease

Inclusion criteria for controls include normo-ovulatory history, aged between 20-35 years, who exhibit normal liver and kidney function, and do not have any systemic diseases including autoimmune disease.

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Exclusion Criteria:

For the endometriosis cohort

• polycystic ovary syndrome, hyperprolactinemia
• severe cardiovascular system, liver, kidney, and hematopoietic system disease
• autoimmune disease
• uterine fibroids, endometritis, non-vegetative ovarian cysts, ovarian malignancies, and internal genital tuberculosis

Exclusion criteria for the controls includes gynaecological malignancies and genital tuberculosis.

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Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Endometriosis; Women with suspected endometriosis undergoing laparoscopy to provide tissue for pathological diagnosis of the disease.	Diagnostic test: EndoDx; PCR assay for Endometriosis diagnosis
Control; Women undergoing surgery for benign cervical disease.	Diagnostic test: EndoDx; PCR assay for Endometriosis diagnosis

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Develop a gene signature that detects endometriosis	Gene expression levels in samples from endometriosis subjects and controls	12-18 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Assess the diagnostic utility of the gene signature to differentiate between endometriosis and controls	Algorithmic analysed normalized gene expression levels in samples from endometriosis subjects and controls	6 months

Collaborators and Investigators

• Sponsor: Wren Laboratories LLC
• Collaborators: University of Cape Town

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2024
• Primary Completion (Estimated): August 31, 2025
• Study Completion (Estimated): December 31, 2026

Study Registration Dates

• First Submitted: March 25, 2025
• First Submitted That Met QC Criteria: March 25, 2025
• First Posted (Actual): April 2, 2025

Study Record Updates

• Last Update Posted (Actual): April 2, 2025
• Last Update Submitted That Met QC Criteria: March 25, 2025
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Keywords: Endometriosis; PCR; Diagnosis; Gene Expression
• Additional Relevant MeSH Terms: Urogenital Diseases; Genital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Genital Diseases, Female; Endometriosis
• Other Study ID Numbers: WrenEndoMstudy 01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

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