NCT06907303

RNA Assays for Endometriosis Detection and Diagnosis

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

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 400 (estimated)
• Sponsor: Wren Laboratories LLC · Industry
• Sex: Female
• Age: 20 Years – 35 Years
• Healthy volunteers: —

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

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	EndoDx	PCR assay for Endometriosis diagnosis

Timeline

• Start date: 2024-01-01
• Primary completion: 2025-08-31
• Completion: 2026-12-31
• First posted: 2025-04-02
• Last updated: 2025-04-02

Locations

2 sites across 2 countries: United States, South Africa