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Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

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.).
PMID
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Authors

Mayor MeshTerms

Prenatal Diagnosis

Keywords
Journal Title the new england journal of medicine
Publication Year Start




PMID- 29694819
OWN - NLM
STAT- MEDLINE
DCOM- 20180509
LR  - 20180514
IS  - 1533-4406 (Electronic)
IS  - 0028-4793 (Linking)
VI  - 378
IP  - 17
DP  - 2018 Apr 26
TI  - Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
PG  - 1604-1610
LID - 10.1056/NEJMoa1714322 [doi]
AB  - 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.).
FAU - Schneider, Holm
AU  - Schneider H
AD  - 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-Nurnberg, 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.).
FAU - Faschingbauer, Florian
AU  - Faschingbauer F
AD  - 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-Nurnberg, 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.).
FAU - Schuepbach-Mallepell, Sonia
AU  - Schuepbach-Mallepell S
AD  - 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-Nurnberg, 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.).
FAU - Korber, Iris
AU  - Korber I
AD  - 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-Nurnberg, 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.).
FAU - Wohlfart, Sigrun
AU  - Wohlfart S
AD  - 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-Nurnberg, 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.).
FAU - Dick, Angela
AU  - Dick A
AD  - 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-Nurnberg, 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.).
FAU - Wahlbuhl, Mandy
AU  - Wahlbuhl M
AD  - 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-Nurnberg, 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.).
FAU - Kowalczyk-Quintas, Christine
AU  - Kowalczyk-Quintas C
AD  - 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-Nurnberg, 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.).
FAU - Vigolo, Michele
AU  - Vigolo M
AD  - 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-Nurnberg, 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.).
FAU - Kirby, Neil
AU  - Kirby N
AD  - 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-Nurnberg, 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.).
FAU - Tannert, Corinna
AU  - Tannert C
AD  - 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-Nurnberg, 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.).
FAU - Rompel, Oliver
AU  - Rompel O
AD  - 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-Nurnberg, 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.).
FAU - Rascher, Wolfgang
AU  - Rascher W
AD  - 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-Nurnberg, 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.).
FAU - Beckmann, Matthias W
AU  - Beckmann MW
AD  - 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-Nurnberg, 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.).
FAU - Schneider, Pascal
AU  - Schneider P
AD  - 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-Nurnberg, 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.).
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - N Engl J Med
JT  - The New England journal of medicine
JID - 0255562
RN  - 0 (Antigens, CD)
RN  - 0 (Ectodysplasins)
RN  - 0 (Fc(alpha) receptor)
RN  - 0 (Fc-EDA)
RN  - 0 (Immunoglobulin Fc Fragments)
RN  - 0 (Receptors, Fc)
RN  - 0 (Recombinant Fusion Proteins)
RN  - 0 (Recombinant Proteins)
SB  - AIM
SB  - IM
CIN - N Engl J Med. 2018 Apr 26;378(17 ):1637-1638. PMID: 29694818
CIN - N Engl J Med. 2018 Apr 26;378(17 ):1643-1645. PMID: 29694822
MH  - Adult
MH  - Amniotic Fluid
MH  - Antigens, CD/*therapeutic use
MH  - Ectodermal Dysplasia 1, Anhidrotic/diagnostic imaging/genetics/*therapy
MH  - Ectodysplasins/deficiency/*genetics/*therapeutic use
MH  - Female
MH  - Fetal Therapies/*methods
MH  - Genetic Therapy/*methods
MH  - Humans
MH  - Immunoglobulin Fc Fragments/*therapeutic use
MH  - Injections
MH  - Male
MH  - Mutation
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Radiography
MH  - Receptors, Fc/*therapeutic use
MH  - Recombinant Fusion Proteins/*therapeutic use
MH  - Recombinant Proteins/therapeutic use
MH  - Sweat Glands/abnormalities/diagnostic imaging
MH  - Tooth Germ/diagnostic imaging
EDAT- 2018/04/26 06:00
MHDA- 2018/05/10 06:00
CRDT- 2018/04/26 06:00
PHST- 2018/04/26 06:00 [entrez]
PHST- 2018/04/26 06:00 [pubmed]
PHST- 2018/05/10 06:00 [medline]
AID - 10.1056/NEJMoa1714322 [doi]
PST - ppublish
SO  - N Engl J Med. 2018 Apr 26;378(17):1604-1610. doi: 10.1056/NEJMoa1714322.