Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
- Authors:
- 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
N Engl J Med 2018 Apr;378(17):1604-1610
From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne, Epalinges, Switzerland (S.S.-M., C.K.-Q., M.V., P.S.); and Edimer Pharmaceuticals, Andover, MA (N.K.).
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. Read More
