Fabrazyme (Agalsidase Beta)

What it is and what it treats

Fabrazyme (agalsidase beta) is a recombinant human alpha-galactosidase A enzyme replacement therapy indicated for long-term treatment of patients with a confirmed diagnosis of Fabry disease, a rare X-linked lysosomal storage disorder resulting from deficient or absent alpha-galactosidase A activity.

In Fabry disease, globotriaosylceramide (GL-3) and related glycosphingolipids accumulate in lysosomes of cells throughout the body, particularly affecting the kidneys, heart and vascular endothelium, and contributing to progressive organ dysfunction. Agalsidase beta provides an exogenous source of the enzyme, which is taken up by cells via mannose-6-phosphate receptors and catalyses hydrolysis of accumulated substrate.

Clinical development programmes have described clearance of GL-3 from renal and cardiac tissue and long-term extension data describing stabilisation of renal function in treated patients, supporting its role as a disease-modifying therapy rather than a symptomatic treatment alone.

Presentations and dosage forms

• Lyophilised powder for concentrate for solution for infusion, 35 mg per vial
• Single-use vials requiring reconstitution with water for injection and subsequent dilution in sodium chloride solution
• No oral or subcutaneous presentations are authorised

How it is administered

The EU SmPC describes agalsidase beta as administered by intravenous infusion at a dose of 1 mg/kg body weight once every two weeks. The initial infusion rate is described as not exceeding a defined slow rate, with gradual increases considered in subsequent infusions if well tolerated.

Premedication with antipyretics and/or antihistamines has been used in clinical practice ahead of infusions to reduce the frequency of infusion-associated reactions. Administration should occur in a setting able to manage such reactions, including anaphylaxis.

Treatment is intended to be continued on a long-term basis, with periodic assessment of renal function, cardiac status and antibody development used to inform ongoing management by the treating specialist.

Storage and handling

• Store lyophilised powder at 2–8 °C under continuous refrigeration; do not freeze
• Protect vials from light and keep in the original carton
• Once reconstituted and diluted, the solution should be used promptly within the timeframe specified in the SmPC
• Do not use beyond the printed expiry date
• Cold-chain integrity must be maintained throughout transport and storage

Side effects

The following adverse reaction profile reflects the approved EU SmPC and accumulated clinical trial and post-marketing experience with agalsidase beta.

Commonly reported

Serious effects requiring medical attention

Suspected adverse reactions, particularly infusion-associated events, should be reported promptly to the treating physician or relevant national reporting scheme.

Fabrazyme compared with other Fabry disease therapies

Agalsidase beta is dosed at 1 mg/kg every two weeks, whereas agalsidase alfa, an alternative enzyme replacement therapy approved in some jurisdictions, is dosed at 0.2 mg/kg every two weeks and is produced using a different cell line.

Migalastat, an oral pharmacological chaperone, is approved in some regions as an alternative for patients with amenable GLA gene mutations, offering a non-infusion option for a defined subgroup. Choice of therapy depends on genotype, disease stage and specialist assessment rather than direct substitution.

Availability and supply route

Marketing authorisation status for Fabrazyme varies by country, and approved indications, pack sizes and prescribing information may differ between the EU, US and other regulated markets. Institutions should confirm local registration before planning treatment.

Where local registration or supply is limited, many jurisdictions provide named-patient or specials import frameworks that allow supply of a foreign-registered medicine against a valid prescription and appropriate regulatory documentation, under the responsibility of the treating physician.

Pharmacy Remedy is a licensed Turkish pharmaceutical wholesaler that supplies medicines through licensed distribution channels to hospitals, pharmacies and other authorised institutions; it does not sell medicines directly to the public and all supply is conditional on valid prescriptions and applicable import documentation.

Frequently asked questions

Primary sources

• EMA EPAR — Fabrazyme
• FDA prescribing information — Fabrazyme

Further reading and regulatory routes

• Which country Fabrazyme is sourced from, and why prices differ
• How to verify a medicine is genuine
• Why medicines cost less in Türkiye
• WHO falsified medicine alerts
• Named patient supply
• UAE import guide
• For healthcare professionals
• All medicine monographs

Related medicines

• Cerezyme (imiglucerase)
• Ilaris (canakinumab)