A pill for sickle cell anemia
The drug has successfully passed the first phase of clinical trials
American molecular biologists have developed the first oral drug that causes the body to produce the germinal form of hemoglobin and thus suppresses sickle cell anemia, a hereditary disease common in some regions of the world. The researchers told about this at the spring conference of the American Chemical Society (Towards a reliable oral treatment for sickle cell disease).
Sickle cell anemia is a hereditary disease in carriers of which the shape of red blood cells changes due to the fact that as a result of a point mutation in the hemoglobin beta chain gene, a pathological variant of hemoglobin S (HbS) appears.
According to statistics from the World Health Organization, about 420 million people worldwide suffer from sickle cell anemia and similar diseases. So far, scientists have not created effective methods to combat these diseases, except for suppressing their symptoms and various external manifestations, as well as bone marrow transplantation.
"We have created a small molecule, FTX-6058, which causes the patient's body to produce large amounts of hemoglobin F in all red blood cells. This is extremely important to prevent the symptoms of the disease, which are associated with the sickle–shaped cells," he said Ivan Efremov, one of the leaders of the startup Fulcrum Therapeutics, who developed the drug.
FTX-6058 molecule bound to its protein target.
The fight against this form of anemia is complicated by the fact that all drugs with which it is possible to restore the normal functioning of the circulatory system must be administered intravenously. This complicates the life of patients and does not allow them to be treated at home.
Efremov and his colleagues suggested that this problem can be solved by forcing the patient's body to produce another form of hemoglobin. The fact is that during intrauterine development, the embryo does not use the "adult", but the so-called fetal (from Lat. fetus – fruit) is a kind of this protein. It is also called hemoglobin F. It tolerates oxygen better, but it decays faster and tolerates temperature fluctuations worse.
As a rule, the fetal body stops producing fetal hemoglobin shortly before birth. However, in some people it continues to form throughout life. Efremov and his colleagues tried to reproduce this feature of the hematopoietic system by studying in detail how the bone marrow stem cells of such people work.
As a result, scientists have created the FTX-6058 molecule. It increases the activity of the embryonic EED gene associated with the production of fetal hemoglobin in the "billets" of red blood cells. As a result, the body of carriers of sickle cell anemia ceases to produce defective cells and begins to produce normal-shaped red blood cells that can effectively carry oxygen.
Scientists have tested the work of the drug in experiments on cell cultures and on animals. They also conducted the first phase of clinical trials. The tests showed that FTX-6058 did not cause dangerous side effects in the study participants and at the same time increased the concentration of fetal hemoglobin in their erythrocytes to 30%.
In the near future, Efremov and his colleagues plan to start the second phase of clinical trials, which should involve more carriers of sickle cell anemia. In addition, scientists want to test whether FTX-6058 can be used to fight other blood diseases, including the treatment of beta-thalassemia.
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