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Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
Journal article

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

  • Schneider H 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.).
  • Faschingbauer F 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.).
  • Schuepbach-Mallepell S 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.).
  • Körber I 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.).
  • Wohlfart S 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.).
  • Dick A 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.).
  • Wahlbuhl M 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.).
  • Kowalczyk-Quintas C 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.).
  • Vigolo M 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.).
  • Kirby N 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.).
  • Tannert C 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.).
  • Rompel O 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.).
  • Rascher W 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.).
  • Beckmann MW 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.).
  • Schneider P 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.).
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  • 2018-04-26
Published in:
  • The New England journal of medicine. - 2018
Adult
Amniotic Fluid
Antigens, CD
Ectodermal Dysplasia 1, Anhidrotic
Ectodysplasins
Female
Fetal Therapies
Genetic Therapy
Humans
Immunoglobulin Fc Fragments
Injections
Male
Mutation
Pregnancy
Prenatal Diagnosis
Radiography
Receptors, Fc
Recombinant Fusion Proteins
Recombinant Proteins
Sweat Glands
Tooth Germ
English 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.).
Language
  • English
Open access status
bronze
Identifiers
Persistent URL
https://sonar.ch/global/documents/182147
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