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Enrolling by Invitation

NCT Number: NCT06880250

Efficacy and Safety of Enzyme Replacement Therapy in 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.

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Key information

Conditions

Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Age range

8 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

#13, Astrakhan, Russia

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About this study

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).

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Change from Baseline in Lyso-Gb3 Level

    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

    Level of globotriaosylsphingosine (lyso-Gb3) is measured in dried blood spots.

Secondary outcomes

  1. Change from Baseline in α-GAL Activity

    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

    Level of α-Galactosidase (α-GAL) activity is measured in dried blood spots.

  2. Change from Baseline in GFR

    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

    Glomerular filtration rate (GFR) is measured by methods available in routine medical use.

  3. Change from Baseline in Neuropathic Pain Level

    Time frame: 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.

  4. Incidence Rate of Significant Clinical Outcomes

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

NPO Petrovax

Industry

Registry information

Official study title

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

Acronym: FAVORIT

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
Mar 17, 2025
Registry last updated
Dec 31, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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