Medical Science Drugs Reversed Inherited Disorder

Medical science has advanced considerably. Finding cures for various diseases has become possible though there are some diseases for which it is still impossible. Scientists have gained success in curing inherited disorder during pregnancy. The hereditary disease prevented a set of twins and another child from producing protein required to make sweat glands. However, doctors injected the drug at the right time during pregnancy to help in having sweat glands. The drug has been used for the first time in pregnancy intervention for treatment of a developmental disorder.

The findings and details of the experiment were published in the New England Journal of Medicine. The study took place in a clinic specializing in rare and inherited skin diseases in Germany in 2016. The clinic at the University of Erlangen-Nürnberg participated in a clinical research in which a protein replacement treatment in young children was carried out. The drug did not yield the expected result and the research was stopped. The manufacturer of the drug Edimer Pharmaceuticals was closed.

Then a German nurse, whose name is withheld for privacy concerns, already had a son who had the disease. It was discovered when he was two years old. She outlined that he was crying continuously as he used to become too hot due to inability to sweat. Children without active sweat glands learn to take care of themselves by getting drenched in water and lying on the cool tile floor as they grow up.

“It can be life-threatening when they are young. They got hot very fast if you leave them in a car,” said Holm Schneider, the physician who counseled the nurse. “But when they are bigger, they instinctively know to cool off.”

Then the nurse became pregnant with twins. After 21 weeks of pregnancy, an ultrasound showed that they had the same disorder. The Edimer’s drug did not help kids, but the tests showed that it worked when injected into pregnant animals. The nurse and her husband asked Schneider if utero treatment would be possible for twins. Schneider and his colleagues 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.”

Schneider agreed to attempt to cure within a month of the request. The university made a compassionate use exemption. Doses were obtained from the drug that was left over from the trial of Edimer Pharmaceuticals. The treatment revealed the fact that the missing protein was required for temporary purposes–between 20 and 30 weeks–while sweat glands are forming in a developing fetus. Schneider and his team injected into amniotic sacs of twins.

“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.”

The nurse highlighted that the treatment worked, and twins are able to sweat normally. However, they still have some unusual facial features along with missing teeth. Other diseases including hemophilia cannot be treated in this way as the body needs a constant supply of molecules that are missing. Scientists have been trying to find new ways and drugs to cure diseases that were incurable or did not have any solution. Scientists would consider fetal gene therapy to add a new set of genes to cells of a baby.

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