Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 29694819.
- Also identified by DOI 10.1056/NEJMoa1714322.
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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.).
Medical subject headings
- Antigens, CD
- Ectodermal Dysplasia 1, Anhidrotic
- Ectodysplasins
- Fetal Therapies
- Genetic Therapy
- Immunoglobulin Fc Fragments
- Prenatal Diagnosis
- Receptors, Fc
- Recombinant Fusion Proteins