Efficacy and Safety of Enzyme Replacement Therapy in Patients With Fabry Disease

Open-label Comparative Cohort Non-interventional Epidemiological Study of the Efficacy and Safety of Enzyme Replacement Therapy in Russian Patients With Fabry Disease

The goal of this observational study is to learn how enzyme replacement therapy works in patients with Fabry disease. The main question it aims to answer is:

What medical problems do participants have?

Participants already on enzyme replacement therapy as part of their regular medical care for Fabry disease will be observed as usual. Their data will be collected by their doctor.

All patients on enzyme replacement therapy could be enrolled in the study. Three medicines are currently available in Russia (Fabagal®, Fabrazyme®, Replagal®) so the patients form three cohorts.

For all patients retrospective data are collected for 12 months prior enrollment.

All patients are observed prospectively for 6 months. At the point of 6 months patients taking Fabrazyme or Replagal at the moment finish the study.

Patients on Fabagal are observed for 12 more months (up to 18 months after enrollment).

Inclusion Criteria:

• Men and women with a confirmed diagnosis of Fabry disease;
• Prescribed course of enzyme replacement therapy with any drug (Fabagal, Fabrazyme, Replagal);
• Age 8 - 65 years;
• Signed informed consent of the patient and/or patient's legal representative for participation in the study and processing of personal data.

Exclusion Criteria:

• Renal replacement therapy or kidney transplantation;
• Critical illness unrelated to Fabry disease;
• Pregnancy or breastfeeding;
• Refusal of the patient (or patient's legal representative) from further participation in the study or medical care.