Today at least 350 people in Russia are suffering from rare Fabry disease. However, the actual number of patients can vary from 2,900 to 5,800 individuals, as the experts have revealed at the Second Eurasian Forum on the Diagnostics and Treatment of Orphan Diseases — Commonwealth Without Borders.
As explained, this catastrophic gap is tied to difficulties in finding patients with Fabry disease, which is a hereditary condition characterized by the damaged peripheral and central nervous system, kidneys, heart, digestive system, and eyes,.
Tests and identification of patients with Fabry disease are hampered by nonspecific symptoms, which in the early stages can manifest as analgesic-resistant neuropathic pain, as well as by low public awareness regarding the disease.
Nato Vashakmadze, MD, PhD, Professor, has noted that sometimes neuropathic pain, which is inherent to 80% of cases, is ignored. The symptom shows a crisis course and can manifest for several minutes or several days. When it comes to children, they cannot always explain what is going on:
Sergei Moiseev, MD, PhD, Professor, has noted that 69% of Fabry disease cases are identified through family screening. This is considered the most efficient method, but the difficulty here lies in the examination of family members who live in different regions, the lack of contact between relatives, or their refusal to undergo a molecular genetic test.
Coordinated work and an interdisciplinary approach followed by specialists are important; otherwise, it may take several years to make the correct diagnosis, depriving patients of the opportunity to maintain their quality of life.
Fabry disease is a life-threatening and chronic progressive rare pathology which, without management, results in death at 40 to 50 years.
According to Nato Vashakmadze, Fabry disease can be treated effectively using enzyme replacement therapy (ERT); therefore, an early diagnosis of the disease is of great practical importance:
The professor highlighted the importance of starting treatment on time. Fabry disease is insidious, and when significant clinical changes become evident, treatment may slow the progression of the disease but will not restore the affected organs. At the same time, there are cases when patients interrupt their therapy or refuse it.
Today, medicines used to treat Fabry disease are becoming more affordable for Russian patients.
Medical scientists have presented the new orphan drug, Fabagal®, first in Russia agalsidase beta biosimilar, which has been actively used to treat Fabry disease in adults and children over 8 years of age since 2014 in South Korea. In August, the drug was authorized in Russia,, and it will be marketed in November. In addition, starting from 2024, Fabagal will have dedicated full-cycle facilities in Russia to manufacture the drug (and synthesize the substance) implemented as part of the project run by the Russian biotechnology company Petrovax and its South Korean partner ISU Abxis.
New drugs for orphan diseases treatment can expand options for Fabry disease therapy. The research data cited by Professor Sergei Moiseev showed that those Fabry disease patients who took Fabagal for 22 weeks had their disease biomarker levels reduced, representing a similar outcome when taking the original medicinal product. At the same time, the registered price of Fabagal is 40% lower than that of a similar drug, presenting an option to expand the patient coverage.
Further on, Petrovax plans to export Fabagal® to the markets of Kazakhstan, Belarus and Uzbekistan.
1 Mukhin N.A., Moiseev V.S., Moiseev S.V. et al. Diagnosis and treatment of Fabry disease. Clinical pharmacology and therapy. 2013; 22 (2): 11–20.
2 Kuzenkova L.M., Namazova-Baranova L.S., Podkletnova T.V. et al. Fabry disease: Features of the disease in children and adolescents. Issues of modern pediatrics. 2015; 14 (3): 341–348
3 Ginsberg L. Nervous system manifestations of Fabry disease: data from FOS — the Fabry Outcome Survey. In: Mehta A, Beck M, Sunder-Plassmann G, eds. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis, 2006. Chapter 23. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11613/
4 Moiseev S. V. et al. Clin Pharmacol Ther 2020;29(2):
5 Ministry of Health of the Russian Federation. Clinical guidelines. Fabry disease. Moscow, 2019. Available from: https://cr.minzdrav.gov.ru/recomend/318_1.
6 State Register of Medicines https://grls.minzdrav.gov.ru/PriceLims.aspx?TradeName=&INN=%D0%90%D0%B3%D0%B0%D0%BB%D1%81%D0%B8%D0%B4%D0%B0%D0%B7%D0%B0+%D0%B1%D0%B5%D1%82%D0%B0&RegNumber=&OrgName=&Barcode=&OrderNumber=&OuterState=60&PageSize=&OrderBy=pklimprice&OrderType=desc Accessed: September 29, 2023
7 Marketing Authorization for Fabagal® ЛП-№(002966)-(РГ-RU) https://portal.eaeunion.org/sites/commonprocesses/ru-ru/Pages/CardView.aspx?documentId=6304af8ffb44f110aff5a12b&codeId=P.MM.01, Accessed: August 15, 2023