Clinical trial NCT06907303: RNA Assays for Endometriosis Detection and Diagnosis
Official title: Development and Evaluation of RNA-based Markers for Detecting and Diagnosing Endometriosis
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Endometriosis
Keywords: Endometriosis
Diagnosis
Gene Expression
PCR
Lead sponsor: Wren Laboratories LLC
Sponsor class: INDUSTRY
Collaborators: name: University of Cape Town
First posted: 2025-04-02
Enrollment: 400
Sex: FEMALE
Minimum age (years): 20
Maximum age (years): 35
Standard ages: ADULT
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Women with high suspicion of endometriosis and women undergoing surgery for benign cervical disease.

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

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

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.

-

Primary outcomes:
measure: Develop a gene signature that detects endometriosis
timeFrame: 12-18 months
Secondary outcomes:
measure: Assess the diagnostic utility of the gene signature to differentiate between endometriosis and controls
timeFrame: 6 months
Other outcomes:
Locations:
city: Branford
country: United States
facility: Wren Laboratories
state: Connecticut
city: Cape Town
country: South Africa
facility: University of Cape Town
Study officials:
References: