INTRODUCING
ENZYME REPLACEMENT THERAPY
A multidisciplinary approach to treatment of Fabry disease is recommended.
What is enzyme replacement therapy for Fabry disease?
In patients with Fabry disease, deficient enzymatic activity of alpha-galactosidase A (α-Gal A) leads to an accumulation of the glycosphingolipids globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) within almost all cell types and various organs.1-3Enzyme replacement therapy introduces recombinant enzyme α-Gal A into lysosomes to help address the underlying enzyme deficiency and restore breakdown of accumulated Gb3 in patients with Fabry disease, in addition to the associated multisystemic disease manifestations (Figure 1).4 Two intravenous enzyme replacement therapies are available for patients with Fabry disease: agalsidase alfa and agalsidase beta.5,6 The availability of treatments differs between countries. For further information, please consult your local prescribing information.
Figure 1.
Enzyme replacement therapy restores the breakdown of Gb3 in patients with Fabry disease.4
C-ANPROM/INT/FAB/0017; Date of preparation: March 2021
- Felis A, Whitlow M, Kraus A, et al. Current and investigational therapeutics for Fabry disease. Kidney Int Rep 2019; 5: 407-413.
- Schiffmann R, Hughes DA, Linthorst GE, et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int 2017; 91: 284-293.
- Brady RO, Gal AE, Bradley RM, et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276: 1163-1167.
- El Dib R, Gomaa H, Carvalho RP, et al. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev 2016; 7: CD006663.
- Shire Pharmaceuticals Ltd. Replagal® EU Summary of Product Characteristics. Last updated November 2020.
- Sanofi Genzyme. Fabrazyme® EU Summary of Product Characteristics. Last updated November 2020.
DISEASE MANAGEMENT
STRIVING FOR ORGAN PROTECTION
20 years of treatment for Fabry disease
An interactive video experience
Elearning
SUPPORTING FAMILY CONVERSATIONS:
Family screening for Fabry disease
Family screening is a process to identify any family members at risk of Fabry disease and involves plotting the patient's family tree.
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STRIVING FOR ORGAN PROTECTION
Fabry Disease: Genetic considerations and pedigree analysis for diagnosis
Following a diagnosis of Fabry disease, it is recommended that a thorough pedigree analysis is performed for each patient to identify any family members at risk of the disease.
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STRIVING FOR ORGAN PROTECTION
Fabry Disease: Renal considerations for diagnosis
Renal manifestations occur early in the disease course; therefore, nephrologists are recommended to maintain an awareness of Fabry disease.
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STRIVING FOR ORGAN PROTECTION
Fabry Disease: Neurological considerations for diagnosis
Neurologists can aid an early diagnosis of Fabry disease and document neurological involvement associated with the disease.
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Signs and symptoms of Fabry disease
What are the signs and symptoms of Fabry disease?
Fabry disease is a lysosomal storage disorder caused by variants in the GLA gene and is a progressive, life-threatening, multisystemic condition.
DISEASE MANAGEMENT
Agalsidase alfa
What is agalsidase alfa?
Agalsidase alfa is an intravenous enzyme replacement therapy for patients with Fabry disease.
DISEASE MANAGEMENT
Agalsidase beta
What is agalsidase beta?
Agalsidase beta is an intravenous enzyme replacement therapy for patients with Fabry disease.
DISEASE MANAGEMENT
Chaperone therapy
What are the chaperone therapies for Fabry disease?
One oral chaperone therapy, migalastat, is available for patients diagnosed with Fabry disease and who have an amenable variant.
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