Products
Migalastat is commercially available in capsule form (Galafold, Amicus Therapeutics). It was approved in the EU and many countries in 2016. The drug has orphan drug status in some countries.
Structure and properties
Migalastat (C6H13NO4, Mr = 163.2 g/mol) or 1-deoxygalactonojirimycin is an iminosugar and an analog of the terminal galactose of globotriaosylceramide.
Effects
Fabry disease is an inherited lysosomal storage disease caused by mutations in the -gene. This results in a deficiency of the lysosomal enzyme α-galactosidase A, which is responsible for the metabolism of glycosphingolipids, particularly the degradation of globotriaosylceramide (CL-3) . Insufficient metabolism of these substances leads to deposition in various organs, for example, endothelial cells, renal cells, and neurons. Migalastat (ATC A16AX14) is a pharmacological chaperone. It binds to different mutant variants of α-galactosidase A, which promotes proper folding of the protein and transport (trafficking) to lysosomes. This can partially restore the activity of the enzyme. It is estimated that approximately 30-50% of patients have a mutation that responds to therapy with migalastat.
Indications
For the treatment of Fabry disease (α-galactosidase A deficiency) with a responsive mutation.
Dosage
According to the SmPC. Capsules are taken every other day at the same time of day. Administration must be fasting, i.e., two hours before or two hours after a meal.
Contraindications
- Hypersensitivity
For complete precautions, see the drug label.
Adverse effects
The most common possible adverse effects include headache.
