Biotech Drug Reverses Inherited Disorder in the Womb
A biotech drug has been used to treat a developmental disorder during pregnancy, for the first time.
The injection of a protein has spared a set of twins, as well as one other child, from being born without sweat glands, writes MIT Technology Review.
The experiment took place in Germany in 2016 at a clinic, at the University of Erlangen-Nürnberg that specialises in rare, inherited skin diseases, particularly one called XLHED, in which patients are born with fang-like front teeth and no ability to sweat. This is all down to the fact that their bodies don’t produce a specific protein that is required to make sweat glands.
The clinic had already participated in a clinical study testing a protein replacement treatment in young children, but it didn’t do anything for children. As a result, the study was abandoned, and the drugmaker, Edimer Pharmaceuticals was shut down.
Corinna T, is a German nurse, who has asked that her name remain private. She already had one son with the disease, which she learned of when he was two.
“He was crying incessantly because he had become too hot,” she explained. Affected children later learn how to take care of themselves, by lying on cool tile floors or dousing themselves with water.
“It can be life-threatening when they are young. They got hot very fast if you leave them in a car,” added Holm Schneider, the physician who counseled Corinna. “But when they are bigger, they instinctively know to cool off.”
Corinna became pregnant with twins, and at 21 weeks an ultrasound revealed that they had the same disorder. Remembering that Edimer’s drug had worked when injected into pregnant animals, Corinna and her husband asked Schneider: would in utero treatment be possible for the twins?
“We were hesitant,” he said. “In that situation, you think twice. You think more about the risks involved – three lives – but also the chances that it may bring.”
It only took a month for Schneider to agree to attempt a cure, and therefore had his university, under a “compassionate use” exemption. He was able to obtain doses of the drug left over from Edimer’s trial.
The treatment exploited the fact that the missing protein is needed only temporarily, between weeks 20 and 30, when the sweat glands form in a developing fetus. Scheider says his team injected it directly into the twins’ amniotic sacs.
“The great thing about this is the critical time points in the intrauterine development of these sweat glands,” said Anna David, director of the Institute for Women’s Health at University College London. “I think it is the first time you are seeing a protein drug used for correction of a genetic disorder before birth.”
Following the success of the trial, other parents are eager for the treatment, and Schneider has revealed that he hopes to organise a clinical trial with the help of a charitable foundation. The team treated the fetus of one other woman after its success with Corinna, but it has not tried again.
However, it is rare that any other company would want to market the drug for treating fetuses, even if it works, largely due to treating babies in the womb being such a risk.
“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,” added Schneider. “Yet here you have an incurable disorder, no drug available, and here is something working – three out of three.”