RNA Assays for Endometriosis Detection and Diagnosis

NCT ID: NCT06907303

Last Updated: 2025-04-02

Basic Information

• Recruitment Status: ENROLLING_BY_INVITATION
• Total Enrollment: 400 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-01-01
• Study Completion Date: 2026-12-31

Brief Summary

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.

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

Conditions

Endometriosis

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Endometriosis

Women with suspected endometriosis undergoing laparoscopy to provide tissue for pathological diagnosis of the disease.

EndoDx

Intervention Type: DIAGNOSTIC_TEST

PCR assay for Endometriosis diagnosis

Control

Women undergoing surgery for benign cervical disease.

EndoDx

Intervention Type: DIAGNOSTIC_TEST

PCR assay for Endometriosis diagnosis

Interventions

EndoDx

PCR assay for Endometriosis diagnosis

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

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

-

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

-

• Minimum Eligible Age: 20 Years
• Maximum Eligible Age: 35 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

University of Cape Town

OTHER

Sponsor Role: collaborator

Wren Laboratories LLC

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Wren Laboratories

Branford, Connecticut, United States

University of Cape Town

Cape Town, , South Africa

Countries

United States; South Africa

Other Identifiers

WrenEndoMstudy 01

Identifier Type: -

Identifier Source: org_study_id