rna assays for endometriosis detection and diagnosis

Conditions: Endometriosis

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.

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. -

Keywords: endometriosis diagnosis gene expression pcr