Edimer Pharmaceuticals, a biotechnology company focused on developing an innovative therapy for the rare genetic disorder, X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), today announced key findings of a study exploring novel approaches to the assessment of sweat function in males with XLHED. Affected individuals lack a normal sweat response, placing them at life-long risk for clinically-significant hyperthermia. The study reported on the use of non-invasive technologies for quantitative sweat function, and correlated these results with the nature and location of ectodysplasin A (EDA) gene defects associated with XLHED. Data analysis confirmed a consistent, quantifiable defect in sweat gland function as a disease biomarker in XLHED patients, even in the setting of normal sweat pore counts. The study outcomes were reported at the 60th Annual Meeting of the American Society of Human Genetics (ASHG) in Washington, D.C.
“Developing quantitative biomarkers in XLHED is a critical step for monitoring baseline level of disease severity and measuring the potential response to therapies, including our lead molecule, EDI200.”