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.”
The study, conducted by Dr. Holm Schneider at the University of Erlangen-Nuernberg, Germany, found that in contrast to previous reports of apparently normal sweating in a mixed cohort of male and female hypohidrotic ectodermal dysplasia patients, all 31 XLHED males (representing 25 different EDA mutations/deletions) demonstrated pilocarpine-stimulated sweat volumes (0-11 μl) that did not overlap with the range of values obtained in age-matched control subjects (38-93 μl). Specific EDA genotypes present in 60% of the XLHED male subjects were associated with a total absence of sweating, and the remaining subjects, even the two with normal sweat pore counts, had reduced sweat rates documented using the present technology.
"We are excited to present this new set of findings that Dr. Schneider's team learned this past year. For patients with XLHED, especially in the first years of life, reduced sweating places them at risk for the health consequences of overheating and high fevers," said Dr. Kenneth Huttner, Senior Director of Clinical Research at Edimer and a study co-author. "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."
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