What is chaperone therapy for Fabry disease?

Pharmacological chaperones are small-molecule ligands that selectively bind to and act upon unstable enzymes to increase cellular enzyme levels and improve lysosomal activity and trafficking.1 Variants of genes encoding lysosomal enzymes in patients with lysosomal storage disorders can cause protein misfolding, enzyme retention within the endoplasmic reticulum or Golgi apparatus, degradation, improper protein processing, and/or defective transport to lysosomes.1,2 In patients with Fabry disease, the lysosomal enzyme alpha-galactosidase A (α-Gal A) may be improperly folded due to missense variants of the GLA gene.3,4 Misfolded α-Gal A variants have residual enzymatic activity but are considered unstable.5 Deficient activity of α-Gal A leads to an accumulation of the glycosphingolipids globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) within almost all cell types and various organs.6-8 In patients with Fabry disease, pharmacological chaperones can bind to α-Gal A to stabilise its structure in the endoplasmic reticulum, thereby allowing proper trafficking of α-Gal A to the lysosomes (Figure 1).9-11 One oral chaperone therapy, migalastat, is available for patients diagnosed with Fabry disease and who have an amenable variant.12The availability of migalastat differs between countries. For further information, please consult your local prescribing information.

Figure 1.
Chaperone therapy corrects the folding error of some missense variants of the GLA gene to facilitate normal trafficking of α-Gal A to the lysosome in patients with Fabry disease.3,9-11

C-ANPROM/INT/FAB/0017; Date of preparation: March 2021

 
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DISEASE MANAGEMENT

STRIVING FOR ORGAN PROTECTION
20 years of treatment for Fabry disease

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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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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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WORLDSymposium™ 2022 

The WORLDSymposium™ was held as a hybrid meeting this year (7–11 February 2022) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases. Here you can access summaries from the meeting, including reports with a specific focus on 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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STRIVING FOR ORGAN PROTECTION
Fabry Disease: Cardiac considerations for diagnosis

Due to the high prevalence of cardiac involvement in patients with Fabry disease, cardiologists are vital in the screening and diagnosis of the disease. Cardiologists are recommended to maintain an awareness of Fabry disease.

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DISEASE MANAGEMENT

Migalastat

What is migalastat?

Migalastat is an oral chaperone therapy for patients diagnosed with Fabry disease and who have an amenable variant.

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DISEASE MANAGEMENT

Agalsidase alfa

What is agalsidase alfa?

Agalsidase alfa is an intravenous enzyme replacement therapy for patients with Fabry disease.

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DISEASE MANAGEMENT

Agalsidase beta

What is agalsidase beta?

Agalsidase beta is an intravenous enzyme replacement therapy for patients with Fabry disease.

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