Advances in drug research for Fabry disease
10.13200/j.cnki.cjb.004534
- VernacularTitle:法布雷病药物的研究进展
- Author:
Mengke YUAN
- Publication Type:Journal Article
- Keywords:
Fabry disease(FD);
Enzyme replacement therapy(ERT);
Gene therapy;
Lysosomal storage disorder
- From:
Chinese Journal of Biologicals
2026;39(09):1119-1126
- CountryChina
- Language:Chinese
-
Abstract:
Fabry disease(FD) is a rare X-linked inherited lysosomal storage disorder caused by reduced or absent α-galactosidase A(α-Gal A) activity.This deficiency leads to the pathological accumulation of metabolic substrates,resulting in multiorgan dysfunction affecting the heart,kidneys and brain,and potentially threatening life.In addition to symptomatic treatment,the current specific therapeutic approaches for FD in clinical practice primarily include enzyme replacement therapy(ERT),such as agalsidase alfa,agalsidase beta,and pegunigalsidase alfa-iwxj,as well as molecular chaperone therapy(e.g.,migalastat).These therapies not only help stabilize patient symptoms but also significantly reduce the disease burden.Substrate reduction therapy(SRT) and gene therapy are currently in various stages of clinical trials.SRT can be administered as a monotherapy or in combination with ERT,while gene therapy offers the potential to correct α-Gal A deficiency through a single administration.Additionally,several emerging therapeutic strategies,including drug delivery systems based on nanotechnology,are under active investigation.This paper summarizes the mechanisms,approved drugs,and their advantages and disadvantages of these treatment approaches,and discusses the progress of clinical trials for each therapy.Additionally,it explores potential future directions for the development of treatment strategies for FD.
