RNA Assays for Endometriosis Detection and Diagnosis

• Conditions: Endometriosis

• Registration Number: NCT06907303
• Lead Sponsor: Wren Laboratories LLC

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

Study Timeline

• Study Start: 2024-01-01
• Status Verified: 2025-03
• Study First Submitted: 2025-03-25
• Study First Submitted QC: 2025-03-25
• Last Update Submitted: 2025-03-25
• Study First Posted: 2025-04-02
• Last Update Posted: 2025-04-02
• Primary Completion: 2025-08-31
• Study Completion: 2026-12-31

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: Female
• Target Recruitment: 400

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.

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Develop a gene signature that detects endometriosis	12-18 months	Gene expression levels in samples from endometriosis subjects and controls

Secondary Outcome Measures

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

Trial Locations

Locations (2)

Wren Laboratories; 🇺🇸 Branford, Connecticut, United States

University of Cape Town; 🇿🇦 Cape Town, South Africa