Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia

Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Koerber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N, Tannert C, Rompel O, Rascher W, Beckmann M, Schneider P (2018)

Publication Type: Journal article

Publication year: 2018

Journal

New England Journal of Medicine Massachusetts Medical Society

Book Volume: 378

Pages Range: 1604-1610

Journal Issue: 17

DOI: 10.1056/NEJMoa1714322

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.).

Authors with CRIS profile

Holm Schneider Professur für Kinderheilkunde/Experimentelle Perinatalmedizin Sigrun Maier-Wohlfart Department of Paediatrics and Adolescent Medicine Mandy Wahlbuhl-Becker Department of Paediatrics and Adolescent Medicine Wolfgang Rascher Department of Paediatrics and Adolescent Medicine Matthias Beckmann Lehrstuhl für Geburtshilfe und Frauenheilkunde

Involved external institutions

Radiologie Nienburg DE Germany (DE) Université de Lausanne (UNIL) CH Switzerland (CH) Edimer Pharmaceuticals US United States (USA) (US)

How to cite

APA:

Schneider, H., Faschingbauer, F., Schuepbach-Mallepell, S., Koerber, I., Wohlfart, S., Dick, A.,... Schneider, P. (2018). Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. New England Journal of Medicine, 378(17), 1604-1610. https://dx.doi.org/10.1056/NEJMoa1714322

MLA:

Schneider, Holm, et al. "Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia." New England Journal of Medicine 378.17 (2018): 1604-1610.

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