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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).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Fabagal | Patients taking Fabagal® as the enzyme replacement therapy | ||
| Fabrazyme | Patients taking Fabrazyme® as the enzyme replacement therapy | ||
| Replagal | Patients taking Replagal® as the enzyme replacement therapy |
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| Measure | Description | Time Frame |
|---|---|---|
| Change from Baseline in Lyso-Gb3 Level | Level of globotriaosylsphingosine (lyso-Gb3) is measured in dried blood spots. | From 12 months before enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation |
| Measure | Description | Time Frame |
|---|---|---|
| Change from Baseline in α-GAL Activity | Level of α-Galactosidase (α-GAL) activity is measured in dried blood spots. | From 12 months before enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation |
| Change from Baseline in GFR |
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Inclusion Criteria:
Exclusion Criteria:
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Russian patients
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| Name | Affiliation | Role |
|---|---|---|
| Sergey V. Moiseev, MD | Sechenov First Moscow State Medical University (Sechenov University) | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| #13 | Astrakhan | Russia | ||||
| #27 |
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Glomerular filtration rate (GFR) is measured by methods available in routine medical use. |
| From 12 months before enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation |
| Change from Baseline in Neuropathic Pain Level | Neuropathic pain is assessed according to verbal scale: no pain, mild pain, moderate pain, severe pain, very severe pain, intolerable pain. Corresponding value of 0, 2, 4, 6, 8, 10 is assigned. | From enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation |
| Incidence Rate of Significant Clinical Outcomes | Significant clinical outcomes include cardiac rhythm disturbances (atrial fibrillation, persistent supraventricular or ventricular tachycardia), heart failure, stroke, initiation of renal replacement therapy and death from any cause. | From enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation |
| Barnaul |
| Russia |
| #7 | Borovichi | Russia |
| #6 | Chelyabinsk | Russia |
| #21 | Grozny | Russia |
| #16 | Gubkin | Russia |
| #26 | Irkutsk | Russia |
| #12 | Ivanovo | Russia |
| #19 | Kaa-Khem | Russia |
| #10 | Krasnodar | Russia |
| #18 | Kurgan | Russia |
| #17 | Omsk | Russia |
| #15 | Orenburg | Russia |
| #9 | Perm | Russia |
| #23 | Polevskoy | Russia |
| #2 | Rostov-on-Don | Russia |
| #4 | Rostov-on-Don | Russia |
| #24 | Ryazan | Russia |
| #8 | Saint Petersburg | Russia |
| #3 | Simferopol | Russia |
| #22 | Stavropol | Russia |
| #11 | Ufa | Russia |
| #5 | Voronezh | Russia |
| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
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