Fabry Disease
Conditions
Keywords
Fabry, ERT, enzyme replacement therapy
Brief summary
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.
Detailed description
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).
Interventions
None listed
Sponsors
NPO Petrovax
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
8 Years to 65 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change from Baseline in Lyso-Gb3 Level | From 12 months before enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation | Level of globotriaosylsphingosine (lyso-Gb3) is measured in dried blood spots. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change from Baseline in α-GAL Activity | From 12 months before enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation | Level of α-Galactosidase (α-GAL) activity is measured in dried blood spots. |
| Change from Baseline in GFR | From 12 months before enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation | Glomerular filtration rate (GFR) is measured by methods available in routine medical use. |
| Change from Baseline in Neuropathic Pain Level | From enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation | 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. |
| Incidence Rate of Significant Clinical Outcomes | From enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation | 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. |
Countries
Russia
Outcome results
None listed