U.S. Geneticist Who Developed Enzyme Replacement Therapy for Fabry Disease Endorses the Russian Biosimilar Fabagal®

Over the past decade, the number of Fabry disease diagnoses in Russia has increased 70-fold[1]. Advances in both diagnostics and enzyme replacement therapy (ERT) have significantly improved outcomes for patients living with this rare genetic disorder. The recent approval of the fully localized biosimilar Fabagal® (agalsidase beta) has expanded access to treatment for patients across Russia.

Leading international experts gathered at the 11th Congress of the Russian Society of Medical Geneticists in St. Petersburg to discuss the latest developments in the field. Among them was Dr. Robert J. Desnick, the American geneticist who pioneered the development of the gold-standard ERT for Fabry disease. In his keynote address, Dr. Desnick highlighted the clinical advantages of agalsidase beta over agalsidase alpha — a product that failed to gain FDA approval and was never approved in the United States due to its lower efficacy.

Fabry disease is a rare inherited disorder caused by a deficiency of the alpha-galactosidase enzyme, leading to the buildup of lipids in cells and resulting in severe damage to several organs, including the heart and kidneys. In Russia, the number of diagnosed Fabry disease cases has increased 70-fold over the past decade. To date, the disease has been confirmed in 350 individuals, most of whom now have access to ERT. However, according to Professor Sergei Valentinovich Moiseev, MD, PhD, Corresponding Member of the Russian Academy of Sciences and Director of E.M. Tareev Clinic, theoretically as many as 5,800 people in the country may be living with Fabry disease, meaning that the majority of cases remain undetected.

Today, Russian physicians have access to a full range of diagnostic tools for Fabry disease, including targeted and family[2] screening programs. Yet, establishing an accurate diagnosis remains a challenge. While common symptoms include angiokeratomas and neuropathic pain, they are not present in all patients. Organ damage is often nonspecific, and the GLA gene — which encodes the alpha-galactosidase enzyme — has more than 1,000 known mutations, further complicating diagnosis.

Diagnosing Fabry disease in women[3] is particularly difficult. "The disease often follows a milder course in female patients, and their laboratory test results tend to be less conclusive than those of men," explained Dr. Ekaterina Yurievna Zakharova, MD, PhD, Head of the Department of Molecular Mechanisms of Hereditary Metabolic Disorders, FSBSI RCMG.

Most patients with Fabry disease in Russia have access to enzyme replacement therapy, said Sergei Valentinovich Moiseev.

The development of ERT for Fabry disease — and other lysosomal storage disorders — was pioneered by Dr. Robert J. Desnick, Professor and Chairman of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai Hospital in New York City.

His lab completed cutting-edge work for its time, including sequencing and cloning the GLA gene, creating a mouse model of the disease, accumulating the enzyme and testing its characteristics. Their efforts resulted in the creation of agalsidase beta, the first product for enzyme replacement therapy for Fabry disease. The drug was authorized by the FDA in 2003.

In his keynote address, Dr. Desnick emphasized that numerous studies he conducted revealed the critical importance of initiating therapy early to prevent damage to vital organs and reduce the risk of serious complications and premature death.

Agalsidase beta, developed by Dr. Desnick and his team, has become the gold standard for treating Fabry disease. The presence of mannose-6-phosphate residues on the enzyme’s surface enables it to efficiently enter lysosomes, where it breaks down the accumulated lipids responsible for the disease, thereby helping to restore normal cellular function. Additionally, Dr. Desnick has pointed out that drugs with the international nonproprietary name (INN) agalsidase alfa were never approved by the FDA and are not used in the United States due to their lower efficacy. Agalsidase alfa contains fewer mannose-6-phosphate residues, and unlike agalsidase beta, does not fully clear the lipid substrate from the kidneys. According to Dr. Desnick, the FDA convened a special advisory meeting to evaluate both drugs and ultimately approved only agalsidase beta based on the pharmacological and clinical evidence.

In Russia, patients with Fabry disease have access to one domestically produced and three imported options. The domestic drug, Fabagal® (agalsidase beta), is fully manufactured in Russia, from the cell line substance to the final product.

After reviewing the treatment options available to Russian patients with Fabry disease, Dr. Desnick noted that Fabagal® is significantly more affordable than its foreign counterpart, while offering comparable pharmacokinetics, potency and glycosylation profile — resulting in equivalent efficacy.

"I hope this biosimilar can be adopted in other countries as well, helping to ease healthcare budgets and reduce treatment costs. That’s one of the key advantages that biosimilars have to offer,"
Dr. Desnick emphasized.

Reference information

The 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 that causes kidney damage, neuropathic pain in the extremities, congestive heart failure, heart attack and stroke. Without an early diagnosis and properly selected therapy, the disease results in permanent disability and death. Enzyme replacement therapy can reduce the level of disability and increase the life expectancy of patients by 5.7 years[5].

The Russian market received the first batch of domestically produced Fabagal®, including its substance, in February 2025. Petrovax Pharm implemented the project to localize this drug from cell line-based substance biosynthesis to the finished dosage form in cooperation with the National Research Center for Epidemiology and Microbiology named after Honorary Academician N.F. Gamaleya. This event was unique for Russian medicine when an orphan drug was fully recreated in our country. Its lower price will allow to treat almost twice as many patients as before. The drug has been used in South Korea since 2014.


1 S.V. Moiseev. Fabry disease: 10 years of experience in the Russian Federation. Presentation at the 11th Congress of the Russian Society of Medical Geneticists. Saint Petersburg. 13.05.2025.

2 Moiseev S, Tao E, Moiseev A, Bulanov N, Filatova E, Fomin V, Germain DP. The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients. Genes (Basel). 2022 Sep 9;13(9):1619. doi: 10.3390/genes13091619. PMID: 36140787; PMCID: PMC9498688.

3 Hossain MA, Wu C, Yanagisawa H, Miyajima T, Akiyama K, Eto Y. Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene. Mol Genet Metab Rep. 2019 Jul 24;20:100497. doi: 10.1016/j.ymgmr.2019.100497. PMID: 31372342; PMCID: PMC6661284.

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

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