For the first time: a commercial genetic medicine

Germany is expected to be the first to approve the expensive treatment

61 years ago, Watson and Crick deciphered the structure of DNA, a discovery that paved the way for understanding the most basic mechanisms of cell function. Since then, a lot of knowledge has been accumulated in the field, and today scientists know with great precision how DNA encodes the instructions for the production of proteins. From the moment these processes were understood, scientists dreamed of also developing gene therapy - that is, to repair damaged genes in patients with certain diseases, and to eliminate the disease. Many successes in the field have been achieved in the laboratory, but the transition to the treatment of humans is not simple: although today it is possible to produce normal human genes relatively easily, inserting them into the correct tissue so that they function properly without causing damage is already a much more complicated process.

excess fat

These days, the production of the first genetic drug - Glybera - intended for the treatment of a relatively rare genetic disease: lipoprotein lipase deficiency (or LPLD for short) will be completed. Patients with this disease have a defect in the gene that is supposed to produce an enzyme (lipase), which breaks down fat molecules in the blood after a meal. The action of the enzyme allows the muscles to absorb the breakdown products and use them as a source of energy. Without the enzyme, the level of fat in the blood remains very high, which can cause serious complications, chief among them acute inflammation of the pancreas, which usually leads to death. In the absence of effective treatment, patients are required to observe a very low dose of fat in food, but even this does not always help in the most difficult patients.

with the help of the virus

The drug "Galibra" (or in its full name: alipogene tiparvovec) is simply a normal copy of the defective gene in the patients. To inject it into the target, the gene was engineered into the DNA of a virus capable of entering the muscle cells, and expressing its genes there. The virus has also been engineered so that it itself will not reproduce (unlike the natural virus), to avoid a situation where control over it is lost.

The drug was developed by the Dutch company Uni-Cure (uniQure). It received the approval of the European health authorities two years ago, at the end of extensive clinical trials in a total of 27 patients. The limited number of patients is due to the fact that this is a very rare disease, occurring in approximately one in a million people, and therefore there are very few patients available for the experiment. The small number of patients is also one of the reasons for the very high price tag of "Galibra" - 53,000 euros for one injection of the virus. Most patients need about 20 injections, which raises the price of the treatment to about 1.1 million euros ($1.4 million).

First step to the revolution

"Galibra" is the first genetic drug approved for treatment in Western countries (it was preceded by a cancer treatment drug that was approved in China, but currently has no approval in any other country). Despite its high price,

The health authorities in Germany are expected to be the first to approve the groundbreaking treatment. A special committee in Germany is examining the data on the drug's effectiveness, and it is supposed to publish its decision in about five months. Due to the small number of patients (their number is estimated at 150-200 in Europe as a whole), the high price is not expected to significantly affect the health budgets of most countries. It is also very possible that the price will decrease if the German authorities reach a long-term agreement with the manufacturer and with the Italian company Chiesi, which markets the genetic medicine.

If the use of a drug proves itself, it will be wonderful news for the several hundred patients with LPLD, but no less great news for the entire world of medicine: it will be the first breakthrough into a new world of genetic therapies - which contains the possibility of a fundamental change in the medicine we know. If these treatments fulfill the expectations that depend on them, medicine will be able to eradicate a long list of serious diseases, from diabetes to cardiovascular diseases and even certain types of cancer. Now all that remains is to succeed...