Scientists have developed a diagnostic approach for endometriosis using menstrual blood samples that achieved 81% accuracy in a clinical study. The research was conducted by Hospital Universitario Insular de Gran Canaria, Hospital Clínic Barcelona, and endogene.bio, a France-based precision medicine company.
The study, conducted between March 2023 and September 2024, enrolled 42 participants, including 19 with endometriosis and 23 controls. Researchers isolated menstrual blood-derived stem cells directly from menstrual blood samples and analyzed them using DNA methylation profiling, a technique used in cancer diagnosis. The approach achieved 79% sensitivity and 83% specificity in distinguishing endometriosis cases from controls.
Endometriosis affects approximately one in ten women and takes an average of seven to ten years to diagnose. The current diagnostic standard requires laparoscopy, a surgical procedure. The new approach analyzes freshly isolated cells without culturing, which preserves molecular integrity and provides insight into disease behavior.
DNA methylation profiling analyzes chemical markers on genes that affect whether genes are active. The methylation patterns identified were predictive of endometriosis and revealed differences in how the disease behaves in different patients, which could support development of personalized treatments.
“Our world-first approach to endometriosis research and diagnosis is truly game-changing for women’s health,” said Dr. María Teresa Pérez Zaballos, co-founder and CEO of endogene.bio. “By accessing the molecular signals in menstrual blood, we’re unlocking information about endometriosis activity that was previously only available through surgery.”
Researchers will now validate the approach with a larger patient group to develop a non-invasive diagnostic test. Endogene.bio was founded in 2022 and has established a research partnership with Exeltis after winning Insud Pharma’s ChemoStart competition earlier this year.
The study was led by Dr. Francisco Carmona, former President of the International Society of Endometriosis and Uterine Disorders and Head of the Endometriosis and Uterine Transplant Unit at Hospital Clínic Barcelona.
