Twenty years to make a diagnosis: how specialists identify and treat patients with Fabry disease in Russia?

Leading experts gathered in Moscow at the Orphan Diseases All-Russian Congress to talk about symptoms indicative of Fabry disease, problems with delayed diagnosis and novel therapeutic options available for Russian patients.

Fabry disease is a rare genetic disorder that affects kidneys and leads to heart failure, heart attacks and strokes. If patients are not properly diagnosed and treated, they die at the age of 40-50 years. The highest mortality rate is observed among patients with kidney manifestations, i.e. those for whom Fabry disease provoked kidney damage. Patients who receive treatment in hemodialysis centers are usually the ones who get the diagnosis.

One of Russia's leading experts on Fabry disease, Sergei Moiseev, corresponding member of the Russian Academy of Sciences, Professor, Director of E.M. Tareev Clinic, Sechenov University, shared some data following screening of patients and their relatives done in dialysis facilities: almost half of them, 165 out of 331 people screened were diagnosed with Fabry disease. In this respect, he emphasized that early diagnosis is critical for successful treatment. It currently takes about 21 years for a patient to get the correct diagnosis^[1].

The key method for detecting Fabry disease is family screening: Ekaterina Zakharova, Dr. habil. med., Head of the Laboratory of Hereditary Metabolic Diseases, Head of the Laboratory of Selective Screening, Academician N.P. Bochkov RCMG, says that up to five additional cases of the disease in one family lay dormant for each patient with Fabry disease.

The congress also reviewed the results of a double-blind randomized phase I study investigating the bioequivalence of agalsidase beta (Fabagal®) and a reference drug. The test drug has shown there comparable pharmacokinetics and a similar level of safety. Sergei Moiseev, however, said that it is not simply enough to make the correct diagnosis, all patients need access to therapy and a chance to get treatment.

Studies involving the biosimilar Fabagal® approved in Russia in 2023 and its equivalence to the original product expand the opportunities Russian physicians have in treating patients with Fabry disease. Fabagal has been successfully used since 2014 in South Korea. Partnered with the Gamaleya Center, Petrovax plans to launch full-cycle production of the drug at a facility in the Moscow Region by the end of the year. This is the first transfer of a substance production technology undertaken in Russia. This technology is efficient enough to be able to produce the orphan drug in quantities sufficient to provide therapy for all Russian patients with Fabry disease receiving agalsidase beta enzyme replacement therapy.

Importantly, the Russian biosimilar is priced at 40% lower than the original drug^[2]. With production facilities localized in the country, the budget will save about 500 million rubles per year. The savings effect may exceed 2 billion rubles over five years.

Meanwhile, Petrovax President Mikhail Tsyferov spoke about difficulties the company is facing when bringing Fabagal to the market. In some regions, potential clients use trade names to create procurement lots instead of INNs, with no reasonable grounds.