Power loading: a drug for rare forms of muscular dystrophy has been tested in the Russian Federation
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- Power loading: a drug for rare forms of muscular dystrophy has been tested in the Russian Federation
In the Russian Federation, the effect of a genetically engineered drug for the treatment of dysferlinopathies has been successfully investigated. This is a group of rare muscular dystrophies, which is expressed by weakness and atrophy of various muscle groups up to complete disability. The drug was tested in various tests on mice, and it showed good results, increasing their performance and activity. If preclinical tests are successful, the genetically engineered Russian drug will be the first of its kind, and there are no analogs. According to experts, the drug will have good export potential.
What is dysferlinopathy
Muscular dystrophy includes a whole range of inherited diseases that lead to a decrease in muscle mass and progressive weakness. These diseases are classified as orphan diseases, rare in the population but capable of irreversibly destroying muscle cells. Such patients require great effort to perform familiar tasks, and in the severe course of the disease it becomes difficult to control their bodies.
As the press service of the Ministry of Education and Science of the Russian Federation told Izvestia, a team of researchers from the Research Institute of Pharmacology of Living Systems of the National Research University "BelSU" under the direction of the director of the Research Institute, Doctor of Medical Sciences, Professor Mikhail Pokrovsky successfully investigated the effect of a drug based on adeno-associated viral vector intended for use in the therapy of dysferlinopathies. This is a group of rare (orphan) muscular dystrophies characterized by muscle weakness and atrophy of various muscle groups up to complete disability. The disease is rare - seven in 1 million newborns, and the manifestations begin inconspicuously, making diagnosis difficult.
- Our research group is involved in the study of a drug based on adeno-associated virus carrying codon-optimized complementary DNA of the dysferlin gene under the control of a muscle tissue-specific linker. This allowed to enhance the expression of dysferlin, as well as to get rid of the disadvantages of the analog associated with contraindications to the use of the drug, - said about the uniqueness of the developed drug head of the work, Professor of the Department of Pharmacology and Clinical Pharmacology of the Medical Institute of NIU "BelSU", Doctor of Medical Sciences Mikhail Korokin.
How myodystrophy is treated
In the course of research on the effectiveness of the drug, scientists observed a pronounced correction of physical performance in dysferlin-deficient mice. The originality and novelty of the developed methods of increasing physical performance for the correction of myodystrophy in model animals with doses and modes of administration are protected by three patents of the Russian Federation.
The first of the methods proposed by the developers of the drug involves a single intravenous administration based on a genetically engineered construct. The intensity of the effect was assessed by muscle function in the "grip strength" test. Thirty days after injection, peak grip strength was 27.3% higher in dysferlin-deficient mice compared to animals that did not receive the drug.
The second method includes a single intramuscular injection of the drug and assessment of physical performance of mice during forced swimming with a load. Thus, three months after the injection, the laboratory animals that received the drug swam 92.3% longer compared to normal animals.
Scientists also confirmed the effectiveness of the drug in the test "holding the animal on a slippery vertical rod". In this study, dysferlin-deficient mice were administered the drug twice, one month apart. Three months after the first injection, experts saw that the laboratory mice that received the drug could hold on to a slippery rod for 23% longer compared to dysferlin-deficient animals that did not receive the drug.
According to the scientists of the National Research University "BelSU", the obtained results allow us to conclude that the investigated drug provides a pronounced expression of the dysferlin gene and can be the basis of an effective means of physical performance correction for the therapy of dysferlinopathies.
Promising direction
Recently, gene therapy-based drugs have shown significant success both in terms of clinical efficacy and commercial success. Especially in the treatment of orphan hereditary diseases, Albert Rizvanov, head of the Center of Excellence "Personalized Medicine" at Kazan (Volga Region) Federal University, corresponding member of the Academy of Sciences of the Republic of Tatarstan, told Izvestia.
- The most successful such drug based on adeno-associated virus can be called "Zolgensma" for the treatment of spinal muscular atrophy. However, the cost of such therapy both in the Russian Federation and abroad is extremely high. Therefore, it is necessary not only to develop such drugs, but also to reduce their price, - said the expert.
As for medicines for dysferlinopathy, according to Albert Rizvanov, there are no etiotropic, i.e. eliminating the main cause of the disease, medicines in the world at the moment. Therefore, only symptomatic approaches are used.
- The Russian development has a significant potential both for the treatment of this disease in our country and for the export of technologies and development of international medical tourism, - emphasized the specialist.
It should be remembered that clinical trials of the drug are ahead, said Mikhail Bolkov, a senior researcher at the Institute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences.
- After clinical trials, scientists will know the exact dose for a child, and maybe they will even allow its use in adults, but it's not an easy and long process, - he emphasized.
According to Belgorod State University, the genetically engineered construct for the drug was developed by Genotarget LLC and Artgen-Biotech PJSC. Together with the developers, the university specialists have advanced to the creation of an effective means of increasing physical performance in myodystrophy caused by insufficient work of the dysferlin gene, they added.
