Performance evaluation of a non-invasive menstrual test for endometriosis in infertility patients

Summary Endometriosis is a complex disease that on average, involves a ten-year gap between symptom onset and diagnosis, with profound consequences on fertility outcomes. Moreover, due to the current surgical nature of endometriosis diagnosis (laparoscopy), research studies involving confirmed cases are both difficult to obtain and costly to recruit for. Laparoscopic surgery (recovery times 2-6 weeks) followed by histological confirmation is considered the gold standard for diagnosis. However, even with surgical intervention, 50% of patients have recurrence, underlining the fact that endometriosis shows periodic states of activation, regardless of surgical or therapeutic intervention. Consequently, a non-invasive, reliable biomarker test for endometriosis is a significant unmet medical need. A non-invasive diagnostic for endometriosis would motivate earlier detection of disease and could fundamentally change a patient’s prognosis by preventing disease progression. Menstrual fluid is a rich source of reproductive tissue that can be utilized for disease diagnosis. NextGen Jane has developed a menstrual effluence collection system, which addresses issues of non-invasive sample accessibility and ease of sample transport to a laboratory. Toward commercialization of a reliable test to aid in the diagnosis of endometriosis among patients with infertility, our preliminary data has produced a high-performance genomic assay for the detection of endometriosis. We have performed initial testing of this assay on an independent dataset of 65 participants (38 cases and 27 controls) with high performance (an area under the curve AUC of 0.89). These factors alongside the demonstrated utility of our collection system differentiates this proposal from other non-invasive approaches to detection of endometriosis. Our goal is to commercialize this non-invasive” yes/no” diagnostic tool by performing the validation studies within the intended-use population of subfecund patients, as well as evaluate how well the assay performs when adenomyosis and fibroids are also present, which represents other leading causes of infertility.