First patient with Fabry disease starts treatment with entirely Russian product

Moscow, February 27, 2025. — The first batch of Fabagal^® (agalsidase beta) produced in Russia by full-cycle process, including the drug substance, was released for sale in February. The orphan drug localization project (from cell-based biosynthesis of the substance to the finished dosage form) was implemented by  Petrovax Pharm in  cooperation with N.F. Gamaleya Research Institute of Epidemiology and Microbiology. This is the first time ever in Russian medicine when an orphan drug was fully recreated in our country. Its application will provide treatment to almost twice as the number of patients due to its lower price.

Fabry disease is an orphan genetic disorder induced by deficiency of alfa-galactosidase enzyme, which causes lipids accumulation in cells and vital organ damage. Without timely therapy, patients face severe complications including cardiovascular disorders, kidney failure and strokes.

Fabagal^® has been used in global clinical practice for over a decade. It was approved in Russia in 2023. Its launch to the Russian market allowed reducing the treatment cost by 40% compared to the price of the product with a similar active ingredient. Already 50 Russian patients have been treated with Fabagal^® since its approval in our country.

In December 2024, Petrovax Pharm announced the marketing authorization approval for the product fully produced in Russia. The project on profound localization of the orphan drug, including the substance biosynthesis, was completed in Russia last year in cooperation with N.F. Gamaleya Research Institute of Epidemiology and Microbiology. The implementation of the project for domestic full-cycle production of life-saving medications contributes to achievement of indicators of the Strategy for Healthcare Development in the Russian Federation and ensures the country’s sustainability of drug supply.

Currently, only 65% of Russian patients with diagnosed Fabry disease receive treatment^[1]. At the same time, experts estimate that only 10-15% of people with the disease are diagnosed, as a result of specialists’ information gap and variety of disease manifestations^[2].

Screening in the families of patients with a confirmed diagnosis as well as in patients at risk can increase the detectability. Heart disease is the leading cause of death in patients with Fabry disease (34% in men and 57% in women)^[3].

Therefore, in 2024, Bochkov Medical and Genetic Research Center in cooperation with Petrovax Pharm launched a federal program for Fabry disease cardiological screening. Physicians from any region of the country can order free molecular genetic analysis for their patient with risk factors by calling the hotline: 8-800-511-87-66. This socially important project is crucial for early diagnosis of the disease, which allows for timely start of the treatment.

About 300 patients were tested under this project, 4 of them were confirmed to have Fabry disease.

Reference information

Orphan drug Fabagal^® (agalsidase beta) was approved in Russia in 2023^[4]. It is used in adults and children over 8 years of age as enzyme replacement therapy for Fabry disease. The orphan genetic disorder causes kidney damage, neuropathic pain in the extremities, congestive heart failure, heart attack, and stroke. In the lack of early diagnosis and properly selected therapy, the disease leads to patient’s permanent disability and death. Enzyme replacement therapy can reduce the level of disability and increase the economically active life expectancy of patients by 5.7 years^[5]. The drug has been used in South Korea since 2014.

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¹S. V. Moiseev. Interview. Rossiyskaya Gazeta. https://rg.ru/2024/07/03/pervye-pacienty-s-bolezniu-fabri-poluchili-lechenie-bioanalogom-dorogogo-importnogo-lekarstva.html

²In Russia, the actual number of patients with Fabry disease may be 10 times higher than official data. https://petrovax.com/press_centre/news/2023/v-rossii-realnoe-chislo-pacientov-s-boleznyu-fabri-mozhet-byt-v-10-raz-bolshe-oficialnyh-dannyh/

³Kampmann C, Wiethoff CM, Whybra C, Baehner FA, Mengel E, Beck M. Acta Paediatr. 2008 Apr; 97(4):463-9.

⁴ https://grls.minzdrav.gov.ru/PriceLims.aspx?TradeName=%d0%a4%d0%b0%d0%b1%d0%b0%d0%b3%d0%b0%d0%bb&INN=&RegNumber=&OrgName=&Barcode=&OrderNumber=&OuterState=60&PageSize=&OrderBy=pklimprice&OrderType=desc

⁵M.V. Zhuravleva, T.V. Khimich, Yu.V. Gagarina, V.A. Kotrovsky. Clinical and economic rationale for Fabry disease screening in children at risk. DOI: 10.32756/0869-5490-2021-1-36-42