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Three babies with a rare genetic disorder have been spared the worst effects of their condition thanks to an experimental injection they received in utero, researchers report this week in The New England Journal of Medicine.
The success marks the first time a genetic disorder has been partially reversed by such a treatment prior to birth. The results are “remarkable and encouraging,” development biologist Marja Mikkola at the University of Helsinki, Finland wrote in an accompanying editorial. “This study paves the way for a larger trial of this novel approach.”
The in utero injections treated a rare, recessive genetic condition called X-linked hypohidrotic ectodermal dysplasia (XLHED), which affects the development of skin, hair, nails, and teeth. People with the disorder have sparse body and head hair, dry eyes, mouths, and airways, and few teeth, which are usually pointy. But most dangerously, the condition also disrupts development of sweat glands throughout the body. People with XLHED have fewer sweat glands and/or poorly functioning ones. This leaves individuals vulnerable to high fevers and over-heating (hyperthermia), which can be life-threatening and lead to medical complications.
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