Edimer Pharma presents XLHED study results

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.

Reportedly, 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.

Edimer Pharma’s study, conducted by 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).

Reportedly, in the study 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.

Edimer Clinical Research senior director and a study co-author Kenneth Huttner said that they were excited to present the new set of findings that Schneider’s team learned this past year.

"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 molecule, EDI200," Huttner said.