An abandoned medical experiment in 2016 finally brought success for the doctors in Germany, who managed to successfully treat a genetic disorder in unborn babies whilst still in the womb. Three unborn children have been cured of X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare genetic condition in which children are born with fang-like teeth and without sweat glands.
XLHED patients lack the ability to produce a specific protein that is required to develop sweat glands. Children with this genetic condition have an extreme heat intolerance, which in many cases can also lead to life-threatening hyperthermia.
“It can be life-threatening when they are young. They get hot very fast if you leave them in a car,” Holm Schneider, a lead author of the paper, explained. “But when they are bigger, they instinctively know to cool off.”
This is the first time that an unborn child is treated for the inherited disorder in the womb. The courageous experiment involved injecting protein drug at the time when sweat glands begin to develop.
The German clinic, at the University of Erlangen-Nürnberg, already participated in the protein replacement procedure in 2016. But, the drug developed by Edimer Pharmaceutical didn’t work.
The study was ultimately abandoned and the manufacturer had to shut down the business.
Corinna T, a German nurse already had one son with this disease. She learned about this rare-genetic condition when her son was two-years-old.
“He was crying incessantly because he had become too hot,” Corinna said. She then became pregnant with twins. An ultrasound at 21 weeks into her pregnancy revealed that the twins also had the same disorder.
Corinna and her husband approached Schneider asking for the utero treatment using Edimer’s drug, which although failed in humans but worked when injected into pregnant animals.
“We were hesitant,” Schneider said. “In that situation, you think twice. You think more about the risks involved—three lives—but also the chances that it may bring.”
He, however, agreed to perform the clinical procedure and also managed to grant permission from the University under a “compassionate use” exemption. Schneider was able to get the left-over drug from the previous Edimer’s trial.
His team injected the drug directly into the amniotic sacs of the twins, considering the fact that the missing protein is only required temporarily between 20 and 30 weeks of pregnancy. That is when the sweat glands begin to develop in the fetus.
Corinna said that the treatment worked for her twins. “The twins can sweat normally,” she said. Although they still have got unusual facial features and missing teeth.
Upon the success of this experiment, Schneider was approached by other parents too for similar treatment. The team also managed to treat the fetus of another woman after the successful experiment with Corinna.
However, Schneider believes that although the drug has worked, the chances of companies marketing the drug is very less. This is because the disease is very rare, affecting 1 in 25,000 people only. Besides, treating the disease in the womb again poses risk for companies.
“If you wanted to make this for the patient community, and administer it once in life, the chance that it will ever be profitable is very low,” Schneider said. “Yet here you have an incurable disorder, no drug available, and there is something working—three out of three.”