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

NCT06880250 | Enrolling By Invitation DMC

• 1 other identifier: FAVORIT
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 23

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.

Conditions

Fabry Disease

Keywords

Fabry; ERT; enzyme replacement therapy

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (4)

• 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

• 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

• 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

• 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

Study Arms (3)

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

Eligibility Criteria

• Age: 8 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Russian patients

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• NPO Petrovax: lead

Study Sites (23)

#13

Astrakhan, Russia

Location

#27

Barnaul, Russia

Location

#7

Borovichi, Russia

Location

#6

Chelyabinsk, Russia

Location

#21

Grozny, Russia

Location

#16

Gubkin, Russia

Location

#26

Irkutsk, Russia

Location

#12

Ivanovo, Russia

Location

#19

Kaa-Khem, Russia

Location

#10

Krasnodar, Russia

Location

#18

Kurgan, Russia

Location

#17

Omsk, Russia

Location

#15

Orenburg, Russia

Location

#9

Perm, Russia

Location

#23

Polevskoy, Russia

Location

#2

Rostov-on-Don, Russia

Location

#4

Rostov-on-Don, Russia

Location

#24

Ryazan, Russia

Location

#8

Saint Petersburg, Russia

Location

#3

Simferopol, Russia

Location

#22

Stavropol, Russia

Location

#11

Ufa, Russia

Location

#5

Voronezh, Russia

Location

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

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

Study Officials

• Sergey V. Moiseev, MD

  Sechenov First Moscow State Medical University (Sechenov University)

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 11, 2025
• First Posted: March 17, 2025
• Study Start: March 24, 2025
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): January 1, 2027
• Last Updated: December 31, 2025

Record last verified: 2025-05

Locations

RU (23)