On October 1 in Tver a scientific and practical seminar “Type II mucopolysaccharidosis Modern approaches to therapy - a specialist’s view” held. The event was held under the patronage of the chief freelance geneticist of the Ministry of Health of the Tver region Elena Mikhailovna Kochegurova. The speaker was also a professor, chief researcher at the Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University Alla Semyachkina. 

Experts highlighted the issues of differential diagnosis of orphan disease of type II mucopolysaccharidosis, drug provision of patients, as well as modern approaches to therapy. 

Elena Kochegurova drew attention to the experience of using idursulfase beta as an enzyme replacement therapy in the world, and also emphasized the issues of individualizing the patient’s therapeutic tactics and choosing the right therapy. The chief specialist concluded that, thanks to a timely diagnosis and early initiation of therapy, the prognosis of the disease can be significantly improved.

Recently, the medical community has been paying close attention to rare diseases, which as a result allows us to develop an integrated approach to solving the problems of this issue.