In utero correction of a genetic disorder - Nature Medicine

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N. Engl. J. Med. 378, 1604–1610 (2018).

The genetic disorder X-linked hypohidrotic ectodermal dysplasia (XLHED) results in a lack of the protein ectodysplasin A (EDA) in affected individuals. This prevents the development of sweat glands, which can lead to life-threatening hyperthermia.

Researchers from the University of Erlangen injected the receptor-binding domain of EDA into the amniotic cavity of two pregnant women, one with a single fetus and one with identical twins. The genotypes of these fetuses were unknown, but they were known to be affected by XLHED because of results from noninvasive screening and because they have affected siblings. Once born, the three infants were able to sweat normally.

Although long-term follow-up has yet to be carried out, this study shows the effectiveness of prenatal protein therapy for this genetic disease at critical time periods in development.