Researchers in Europe say they've been able to correct an X-linked condition by treating it in utero with a drug, Stat News reports.
The rare condition, X-linked hypohidrotic ectodermal dysplasia (XLHED), is caused by loss-of-function variants in the gene encoding ectodysplasin A (EDA) and is marked by a lack of sweat glands, which can lead people with the condition to overheat.
Researchers from University of Erlangen-Nürnberg in Germany and elsewhere report in a case study in the New England Journal of Medicine that giving a recombinant protein that includes the receptor-binding domain of EDA in utero to affected fetuses enabled them to develop sweat glands. The researchers treated two twins at gestational weeks 26 and 31 and a single human fetus at gestational week 26, and, after, birth, they were able to sweat.
Erlangen researchers had previously studied the protein made by Edimer Pharmaceuticals in children, Technology Review reports, but the study was halted when the treatment had no effect and the company shut down. But when a nurse became pregnant with twins — her older child had the condition — she sought compassionate use of it to treat the twins in utero, as the protein had been successful in animals when given to them that way.
It was "[e]xtremely successful," the nurse says of the treatment at Tech Review. "The twins can sweat normally."