Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia - PubMed
- ️Mon Jan 01 2018
Case Reports
. 2018 Apr 26;378(17):1604-1610.
doi: 10.1056/NEJMoa1714322.
Florian Faschingbauer 1 , Sonia Schuepbach-Mallepell 1 , Iris Körber 1 , Sigrun Wohlfart 1 , Angela Dick 1 , Mandy Wahlbuhl 1 , Christine Kowalczyk-Quintas 1 , Michele Vigolo 1 , Neil Kirby 1 , Corinna Tannert 1 , Oliver Rompel 1 , Wolfgang Rascher 1 , Matthias W Beckmann 1 , Pascal Schneider 1
Affiliations
- PMID: 29694819
- DOI: 10.1056/NEJMoa1714322
Free article
Case Reports
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia
Holm Schneider et al. N Engl J Med. 2018.
Free article
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.).
Comment in
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In Utero Protein Therapy for an Inherited Developmental Disorder.
Mikkola ML. Mikkola ML. N Engl J Med. 2018 Apr 26;378(17):1637-1638. doi: 10.1056/NEJMe1803224. N Engl J Med. 2018. PMID: 29694818 No abstract available.
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Prostate Cancer Metastasis - Fueled by Fat?
Abate-Shen C. Abate-Shen C. N Engl J Med. 2018 Apr 26;378(17):1643-1645. doi: 10.1056/NEJMcibr1800808. N Engl J Med. 2018. PMID: 29694822 Free PMC article. No abstract available.
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In utero correction of a genetic disorder.
Stower H. Stower H. Nat Med. 2018 Jun;24(6):702. doi: 10.1038/s41591-018-0077-8. Nat Med. 2018. PMID: 29875458 No abstract available.
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In utero correction of a genetic disorder.
Stower H. Stower H. Nat Med. 2018 Dec;24(12):1782. doi: 10.1038/s41591-018-0288-z. Nat Med. 2018. PMID: 30523321 No abstract available.
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