Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia
Holm Schneider, Florian Faschingbauer, Sonia Schuepbach-Mallepell, Iris Körber, Sigrun Wohlfart, Angela Dick, Mandy Wahlbuhl, Christine Kowalczyk-Quintas, Michele Vigolo, Neil Kirby, Corinna Tannert, Oliver Rompel, Wolfgang Rascher, Matthias W Beckmann, Pascal Schneider, Holm Schneider, Florian Faschingbauer, Sonia Schuepbach-Mallepell, Iris Körber, Sigrun Wohlfart, Angela Dick, Mandy Wahlbuhl, Christine Kowalczyk-Quintas, Michele Vigolo, Neil Kirby, Corinna Tannert, Oliver Rompel, Wolfgang Rascher, Matthias W Beckmann, Pascal Schneider
Abstract
Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We administered this protein intraamniotically to two affected human twins at gestational weeks 26 and 31 and to a single affected human fetus at gestational week 26; the infants, born in week 33 (twins) and week 39 (singleton), were able to sweat normally, and XLHED-related illness had not developed by 14 to 22 months of age. (Funded by Edimer Pharmaceuticals and others.).
Source: PubMed