On January 26, 2021, at Zoom conference, an annual seminar for doctors, patients and parents "School for patients with Gaucher disease" was held.

The seminar was attended by more than 40 people, among whom were not only specialists from SCPCS and regions, but also NGOs from Kazakhstan and Russia, patients and parents of children with Gaucher disease.

The purpose of the next seminar was the awareness of doctors, patients, parents about the ongoing measures for diagnosis, pathogenetic treatment, monitoring, dynamic observation of patients with Gaucher disease in the Republic of Kazakhstan. One of the important questions was raised by the parents about replacing the obtained preparation of imiglucerase "Cerezim" ®Genzyme with a biosimilar imiglucerase of Kazakhstani production "Glucerazim" NeoTekPharm.

This online seminar was held with the active participation of representatives of NGO: Alieva E.A. - Chairman of the Public Foundation "Help Today", member of the Board of Trustees of the "Association for Assisting Patients with Orphan Diseases in the Republic of Kazakhstan", the patient organization of the NGO "Patients with Gaucher Disease", Chairman I.G.

The Chairman of the Board of "SCPCS", deputy Ph.D. Boranbaeva R.Z., Chairman of the Board of the " SCPCS" Ph.D. Manzhuova L.N., Head of Pediatrics " SCPCS" Ph.D. Republican coordinator for Gaucher disease - Abdilova G.K., Head of the Department of Oncohematology and UMC "National Scientific Center for Motherhood and Childhood" of Nur-Sultan Ph.D. - Nurgaliev D.Zh.

During the seminar, A.A. Amangeldieva, pediatrician of SCPCS presented a report "Genealogical analysis of Gaucher disease, modern principles of diagnosis", dedicated to the analysis of all diagnostic measures carried out at the stages of verification of Gaucher disease in patients.

Republican coordinator for illness Goshe Abdilov G.K. presented up-to-date information on “Optimization of basic therapy for Gaucher disease in the Republic of Kazakhstan”. The history of diagnostics and enzyme replacement therapy in the Republic of Kazakhstan begins in 2001, when the first patient with such a rare disease was identified at the SCPCS, and later the diagnosis was confirmed in Moscow. Now, 25 patients are under observation by specialists, of which 10 are adults and 15 are children. All patients in the Republic of Kazakhstan have been provided with enzyme replacement therapy drugs in 100% since 2009. Imiglucerase preparations show good efficacy and safety and can significantly improve the quality of life of patients, social adaptation, preventing disability.

This conference is unique in that the Chairman and Deputy Chairman of the Public Organization for Assistance to People with Disabilities from Childhood Suffering from Gaucher Disease and Their Families (Russia, Moscow) took part in the work. Terekhova M.D. being the chairman of the patient organization in Russia for over 15 years, spoke about the principles of providing medical care to patients with Gaucher disease in Russia, about the results of pathogenetic treatment with the use of the Russian domestic drug imiglucerase "Glurasim" ®. Pogosyan N.S. being the mother of a sick child, also shared her impressions of the use of Russian imiglucerase, the experience of the patient organization, answered all the questions of parents from Kazakhstan.

All interested questions from parents of patients, regional doctors, coordinators for rare diseases regarding Kazakhstan imimglucerase "Glucerazim" was answered by representatives: NeoTekPharm Medical Director of NeoTekPharm - Y.M. Budach, Head of Orphan Medicines - R.M. Khasenov and Regional Manager of NeoTekPharm - A. Ibraev.

The event was organized by the "Association for Assisting Patients with Orphan Diseases in the Republic of Kazakhstan" and the Scientific Center of Pediatrics and Children’s Surgery.