Doctors Use Protein Injection To Treat Rare Genetic Disorder In The Womb
This medical miracle was achieved by doctors at the University of Erlangen-Nürnberg, in Germany, who have managed to correct a genetic disorder in utero using a biotech drug, MIT Technology Review reports.
Twin unborn babies diagnosed with a genetic disorder called X-linked hypohidrotic ectodermal dysplasia (XLHED) were treated in utero at the university’s clinic in 2016. Since then, this experimental treatment, derived from a protein replacement drug trial that was initially abandoned, was used by the German clinic to successfully treat a third baby.
According to the National Center for Biotechnology Information, XLHED manifests through the lack of sweat glands, reduced hair, and a craniofacial malformation resulting in fang-like front teeth and hypodontia (congenitally missing teeth).
Of the three symptoms, the lack of sweat glands, which regulate the body’s temperature and which require a specific protein in order to be created, can be life-threatening in young children.
This genetic disorder is extremely rare and affects about 1 in 25,000 people, notes MIT Technology Review. The twins’ mother, a German nurse who wanted her identity to remain private, had already given birth to a son with XLHED, who was diagnosed at the age of 2.
The twins, however, received their diagnosis much earlier, through an ultrasound performed 21 weeks into the pregnancy. Their mother, known only at Corinna T., had heard about the abandoned drug trial in which a replacement protein called EDI200 was used to treat young children.
She also learned that the drug had been successful when injected into pregnant animals and, therefore, she convinced the university to attempt a in utero treatment under a “compassionate use” exemption.
In a medical first, drugs have reversed an inherited disorder in the womb https://t.co/bjT8MiEPHT
— MIT Technology Review (@techreview) April 25, 2018
The experimental drug is produced by the U.S. company Edimer Pharmaceuticals, based in Cambridge, Massachusetts, notes Bloomberg. The company was founded in 2009 but shut down after the initial failed trial involving EDI200.
Since the German clinic also participated in the trial, Dr. Holm Schneider, from the clinic’s Department of Pediatrics, managed to get hold of some doses of EDI200. His team injected the drug directly into the twins’ amniotic sacks and corrected the genetic protein deficiency to stop the disease from occurring.
The procedure was described in a paper published yesterday in the New England Journal of Medicine. Its success was largely due to the fact that EDI200 was administered precisely at the right timing. The missing protein is only needed temporarily, when a developing fetus is between 20 to 30-weeks-old and the body starts to form sweat glands.
“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,” the team wrote in the paper.
According to the twins’ mother, the treatment was “extremely successful” and the babies are now able to “sweat normally,” even though they still have somewhat unusual facial features and missing teeth, states MIT Technology Review.