Michael Berryman - a man with a pronounced manifestation of the symptoms of a rare genetic diseaseThe article deals with the treatment of not one person (although not yet born), but about three at once. All three fetuses are carriers of a genetic disease that affects the development of people's skin, hair, nails, respiratory tract, and teeth. The manifestation of the disease leads to serious consequences, which are not possible to treat. A typical example of a person with this disease is actor Michael Berryman.
But this is speaking about the treatment of already formed people - children or adults. As for the fetus, located in the womb, the situation here is somewhat different. Specialists from the University of Helsinki were able to adjust the direction of development of future babies, having tried experimental treatment. The disease itself is called
hypohydrotic (anhydrotic) ectodermal dysplasia .
Most patients with such a diagnosis do not have body hair, tear ducts are poorly developed, so the eyes must be protected with the help of special means, they lack teeth, there are problems with breathing. But the worst thing is that people with dysplasia have much less sweat glands than the average person, and they work worse. As a result, a person with dysplasia tolerates a hot climate very poorly - a patient with such a diagnosis can overheat very quickly.
Most often, the disease appears due to a mutation that disrupts the functioning of the EDA gene (encoding the ectodisplasinin-A protein). In the early stages of embryo development, development does not proceed as usual, as a result of which the deviations indicated above appear.
Fifteen years ago, a group of scientists discovered that a genetic mutation can be fixed. To do this, you must enter into the body of the fetus created in the laboratory protein, which will serve as the missing link, coding protein, which simply does not produce. Initially, this method was tested on animals, and everything worked as it should. "The course of treatment" were dogs and mice, then born completely healthy. But for some reason, during the early stage of human clinical trials, this method turned out to be useless.
It turned out that the sweat glands are formed between the 20th and 30th weeks of pregnancy. In order to enable all components of the glands and other organs to develop normally, protein must be introduced into the body much earlier.
German doctors received permission from regulators to conduct clinical trials with a volunteer - a 38-year-old pregnant woman whose unborn child was given a definite diagnosis - dysplasia. Representatives of her family were often born with this diagnosis, and the youngest son of the woman was also born with ectodermal dysplasia. With a very high degree of probability, the second child (as it turned out, she wore twins) would also be born with this disease. Therefore, the doctors decided to conduct tests. Gemini protein was introduced, created in the laboratory, at the rate of 100 mg per 1 kg of weight. Protein was reintroduced at week 31 of development. The idea was that the body of the fetus will perceive the protein as "native" and it will be used in the construction of all the necessary cells, tissues and organs.
So it happened. Two weeks after the treatment was repeated, twins were born. True, they appeared ahead of schedule, the doctors had to apply a cesarean section (this is not related to treatment in any way). They were born healthy, without any symptoms of the disease. The speed of development of teeth and hair was normal.
The treatment was repeated with another pregnant woman who was carrying one child. True, the protein produced in the laboratory, was a bit, it is a difficult process. Therefore, the fetus was injected with protein only once. He was born with fewer sweat glands than other children, but overall, his condition was much better than that of babies with ectodermal dysplasia.
Now experts are watching the children of both women, as far as can be judged, the development occurs at a normal pace.
DOI:
10.1056 / NEJMoa1714322