RECOMBINANT PROTEIN THERAPY

In utero correction of a genetic disorder

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 in affected individuals, preventing the development of sweat glands, and can be corrected by amniotic delivery of the missing protein.

Individuals affected by XLHED can develop life-threatening hyperthermia after birth due to their inability to sweat. Researchers from the University of Erlangen injected the receptor-binding domain of EDA intraamniotically into two pregnant women, one with a single fetus and one with twins. These fetuses were known to be affected by XLHED from noninvasive screening and because they have affected siblings. Once born, the three infants were able to sweat normally. Importantly, the authors’ mechanistic studies in mice show that the protein had to be taken up systemically by the developing offspring to be effective.

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.

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Correspondence to Hannah Stower.

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Stower, H. In utero correction of a genetic disorder. Nat Med 24, 702 (2018). https://doi.org/10.1038/s41591-018-0077-8

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