The Concerned, not leave you alone

for the First time a patient has been treated with a drug, the researchers specially for them have developed. A girl from the USA, Mila, suffers from a rare genetic disorder that leaves your nerves in the brain die off. Since February of 2018, Doctors inject a substance that consists of specially-produced molecules, so-called Antisense oligonucleotides (ASO). These new agents allow for the first time, to treat rare genetic disorders. The Problem is that For every genetic defect of its own ASO need to be made, such as in a colorful carpet holes with a cotton thread to mend can be, but depending on the pattern of a different color is needed.

The question is: Who pays for this kind of personalized medicine ? Pharmaceutical companies are hardly interested, if only a handful of patients suffering from the same genetic defect, and also the health insurance companies not to Finance such projects. The development can easily cost well over a Million Swiss francs per case.

time is of The essence

so What can parents do if the Doctors tell you that there is no therapy for your child? Some collect the money and ask researchers for help. Another possibility you have not currently. It was in the case of Mila the case in the USA, and also in Switzerland, the parents of Valeria have brought hundreds of thousands of francs for the therapy of your daughter. The toddler has a rare genetic disorder that leads to the fact that you can't develop mentally and motor-normal.

It may not be the case that parents themselves must take the drugs-development for your own child in the Hand.

The Dilemma in the development of personalized agents is, on the one hand, time is of the essence, because of the evil diseases move this fast (like Mila), or because, as early as possible therapies promise of success, are (as Valeria). On the other hand, the substances have to be tested well before they are administered to patients. This includes Tests on cells and animals as well as the assessment by an approval authority. Already, there are accelerated approval processes for these experimental drugs for seriously ill patients. It's A Start. Is not regulated, for whom these drugs are manufactured.

Faster diagnosis, more favorable preparations

It may not be the case that parents themselves must take the medication development for your own child in the Hand. Because so rare, rare diseases are not. Although they concern by Definition not more than five patients per 10'000 people. Taking together, but all the victims who suffer from the up to 8000 known rare diseases, so 30 to 40 million are in Europe, in Switzerland, 580'000.

it is Important that rare diseases will be faster diagnosed. For Doctors and genetic Tests carried out trained. Mila got her diagnosis late, as she had already lost a lot of skills. In addition, researchers, drug manufacturers and authorities need to seek solutions, such as new drugs cheaper can be developed.

One possibility would be, instead of individual safety tests for each specific ASO, to allow standardized Tests for the entire class of substances. This would reduce the cost of the therapy verb, and faster to make. So that more children could benefit with rare diseases, and not only individual, whose parents collect money for it. These parents have the path also in the future Affected person preparing.

Created: 05.11.2019, 21:54 PM