Erlanger Doctors have found a potential therapy for a rare and life-threatening genetic disease ectodermal dysplasia. Before the birth you are injected with a specific protein into the amniotic fluid of the expectant mother. The normally naturally present in the body Protein, Ectodysplasin A, makes hair, teeth and sweat glands.
Fetuses with ectodermal dysplasia this Protein is missing. They form glands, therefore, during development in the womb, no sweat, and pores. Because you are not sweating and your body in this way can cool, threaten the children, to die of Overheating. Especially up to the age of two years, the disease is life-threatening. In addition, the children have little hair, dry skin, and you have missing teeth or unusually pointed. “They look like little vampires,” said the head physician of children’s clinic and spokesman for the centre for Ectodermal dysplasias Erlangen Holm Schneider.
For the pharmaceutical industry are not of interest to you
About 20 to 30 children are born per year in Germany, with the so far incurable genetic defect. Because the disease is so rare, the pharmaceutical industry has no interest in the development of drugs. The mortality of children is, according to Holm, in our Latitudes, between 2 and 20 percent.
The Franconian researchers want to perform in the coming year, by using a non-profit Foundation a clinical study. Goal of an approved therapy method. The first successful treatments took place in the context of a medical study, Doctors in the journal “NEJM” reports.
Corinna T. from the vicinity of Bremen passed the genetic defect to her first son, Joshua, who is now five years old. “He was crying, no tears,” says the 40-Year-old. In addition, he had at the age of two years, still no teeth and was often become to hot. Genetic testing has brought the certainty that it carries the genetic defect, and this again might give.
“We had nothing to lose”
As Corinna T. was again pregnant, found Doctors for the ultrasound and that the teeth were missing, and equipment at the twins. She decided with her husband for the healing attempt of the Doctors in Erlangen. “We had nothing to lose. Someone has to be at the forefront,” says the mother.
At the beginning of 2016 in the 26. and the 31. Week of pregnancy, the Protein was injected into the amniotic SAC. From the amniotic fluid, the fetus can absorb to Swallow it, over the intestine, it enters the bloodstream.
The now two-year-old boys, Linus and Maarten can normal sweating. With the microscope, the Doctors examined the soles of the feet and palms of the children and noted: “you have the same says a lot of sweat pores, such as a same age control person,” Schneider said.
Also in a further woman the procedure was applied but only once, because the replacement of protein was no longer available. Their son had a slightly lower sweating capacity than the twins, said Holm. “But in our latitudes is sufficient.”
In previous attempts, the Doctors had found out that the therapy is only before birth to be effective – because only then the Chance that the sweat glands are formed. You will be between the 20. and of the 30. Week of pregnancy.
Amir Yazdi, a spokesman for the centre for rare skin diseases, University of Tübingen, believed that the clinical study will be successful. The mechanism of action is well known. Still, there were too few patients and too early to be able to do something about the long-term consequences to say. He could imagine, but hardly any long-term side-effects, because “it is modified here are not genes”.