An observational study in Fabry Disease, sponsored by NPO Petrovax. Enrolling by invitation at 23 sites in Russia. Open to participants aged 8 Years to 65 Years. Per ClinicalTrials.gov, last updated 2025-12-31.
Sponsored by NPO Petrovax · Observational
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).
242 studies on the registry are indexed under Fabry Disease; 54 are open to participants now.
This study's planned enrollment of 100 is close to the median of 100 across 123 observational studies indexed under Fabry Disease.
Browse Fabry Disease studies →NPO Petrovax is the lead sponsor of 13 studies on the registry; 2 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Russian patients
Exclusion Criteria:
Patients taking Fabagal® as the enzyme replacement therapy
Patients taking Fabrazyme® as the enzyme replacement therapy
Patients taking Replagal® as the enzyme replacement therapy
Change from Baseline in Lyso-Gb3 Level
Level of globotriaosylsphingosine (lyso-Gb3) is measured in dried blood spots.
Time frame: 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 α-GAL Activity
Level of α-Galactosidase (α-GAL) activity is measured in dried blood spots.
Time frame: 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
Glomerular filtration rate (GFR) is measured by methods available in routine medical use.
Time frame: 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.
Time frame: 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.
Time frame: From enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation
Plan to share: Undecided
No publications or documents are linked to this record.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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NPO Petrovax