RNA Assays for Endometriosis Detection and Diagnosis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: EndoDx.
- Who it may be relevant to
- Registry conditions: Endometriosis. Basic parameters: 20 years — 35 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, South Africa
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Development and Evaluation of RNA-based Markers for Detecting and Diagnosing Endometriosis
Overview
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
Interventions
- Diagnostic test EndoDx
PCR assay for Endometriosis diagnosis
Primary outcome measures
- Develop a gene signature that detects endometriosis [Time frame: 12-18 months]
Secondary outcome measures (1)
- Assess the diagnostic utility of the gene signature to differentiate between endometriosis and controls [Time frame: 6 months]
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.
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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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Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Case-control
Study locations
United States · 1 center
- Wren Laboratories — Branford
South Africa · 1 center
- University of Cape Town — Cape Town
Identifiers
NCT: NCT06907303 · WrenEndoMstudy 01