Clinical trial NCT06880250: Efficacy and Safety of Enzyme Replacement Therapy in Patients with Fabry Disease
Official title: Open-label Comparative Cohort Non-interventional Epidemiological Study of the Efficacy and Safety of Enzyme Replacement Therapy in Russian Patients with Fabry Disease
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Fabry Disease
Keywords: Fabry
ERT
enzyme replacement therapy
Lead sponsor: NPO Petrovax
Sponsor class: INDUSTRY
First posted: 2025-03-17
Enrollment: 100
Sex: ALL
Minimum age (years): 8
Maximum age (years): 65
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Russian patients

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).

Eligibility criteria: Inclusion Criteria:

* Men and women with a confirmed diagnosis of Fabry disease;
* Prescribed course of enzyme replacement therapy with any drug (FABAGAL, FABRAZIM, REPLAGAL);
* Age 8 - 65 years;
* Signed informed consent of the patient and/or his/her 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 his/her legal representative) from further participation in the study or medical care.

Primary outcomes:
measure: Change from Baseline in Lyso-Gb3 Level
timeFrame: 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:
measure: Change from Baseline in α-GAL Activity
timeFrame: 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: Change from Baseline in GFR
timeFrame: 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: Change from Baseline in Neuropathic Pain Level
timeFrame: From enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation
measure: Frequency of Significant Clinical Outcomes
timeFrame: From enrollment up to 6 months (for Fabrazyme and Replagal cohorts) or up to 18 months (for Fabagal cohort) of observation
Other outcomes:
Locations:
Study officials:
affiliation: Sechenov First Moscow State Medical University (Sechenov University)
name: Sergey V. Moiseev, MD
role: STUDY_CHAIR
References: