Developments in the treatment of Fabry disease.
Sanne J van der VeenCarla E M HollakAndré B P van KuilenburgMirjam LangeveldPublished in: Journal of inherited metabolic disease (2020)
Enzyme replacement therapy (ERT) with recombinant α-galactosidase A (r-αGAL A) for the treatment of Fabry disease has been available for over 15 years. Long-term treatment may slow down disease progression, but cardiac, renal, and cerebral complications still develop in most patients. In addition, lifelong intravenous treatment is burdensome. Therefore, several new treatment approaches have been explored over the past decade. Chaperone therapy (Migalastat; 1-deoxygalactonojirimycin) is the only other currently approved therapy for Fabry disease. This oral small molecule aims to improve enzyme activity of mutated α-galactosidase A and can only be used in patients with specific mutations. Treatments currently under evaluation in (pre)clinical trials are second generation enzyme replacement therapies (Pegunigalsidase-alfa, Moss-aGal), substrate reduction therapies (Venglustat and Lucerastat), mRNA- and gene-based therapy. This review summarises the knowledge on currently available and potential future options for the treatment of Fabry disease.
Keyphrases
- replacement therapy
- clinical trial
- small molecule
- healthcare
- randomized controlled trial
- gene expression
- smoking cessation
- end stage renal disease
- climate change
- oxidative stress
- subarachnoid hemorrhage
- newly diagnosed
- transcription factor
- blood brain barrier
- brain injury
- open label
- mesenchymal stem cells
- hypertrophic cardiomyopathy
- study protocol
- phase ii
- binding protein
- heat shock protein
- peritoneal dialysis
- amino acid
- genome wide identification