The Two Types of Treatment for Fabry Disease: Enzyme Replacement Therapy (ERT) and Oral Chaperone Therapy

Fabry disease is a rare genetic disorder that affects the body’s ability to break down a fatty substance called globotriaosylceramide (GL-3). This buildup can lead to a range of symptoms, including pain, organ damage, and a reduced life expectancy. However, there is hope for individuals with Fabry disease, as two types of treatments have been developed specifically for this condition: enzyme replacement therapy (ERT) and oral chaperone therapy.

Enzyme Replacement Therapy (ERT)

Enzyme replacement therapy involves the use of a lab-made enzyme to replace the deficient alpha-Gal A enzyme in individuals with Fabry disease. The lab-made enzyme performs the function that the absent or defective alpha-Gal A enzyme cannot, effectively reducing the buildup of GL-3 in cells.

One of the enzyme replacement therapies approved for Fabry disease is Fabrazyme (agalsidase beta). Approved by the U.S. Food and Drug Administration (FDA) in 2003 for adults and in 2021 for children ages 2 and older, Fabrazyme has shown promising results in slowing the decline of renal function in patients. In a real-world observational study of 82 patients, those who received Fabrazyme experienced a slower decline compared to those who did not receive treatment.

Oral Chaperone Therapy

Oral chaperone therapy is another treatment option for Fabry disease. It involves the use of oral medications that facilitate the correct folding and transport of the deficient alpha-Gal A enzyme. By enabling the enzyme to reach its target location within cells, oral chaperone therapy helps regulate GL-3 and prevent its accumulation.

While enzyme replacement therapy has been available for Fabry disease for several years, oral chaperone therapy is a more recent development. Clinical trials and studies are ongoing to determine its effectiveness and compare it with enzyme replacement therapy. This new therapy offers the potential for a less invasive treatment option for Fabry disease.

Conclusion

Fabry disease can significantly impact the quality of life for individuals affected by this rare genetic disorder. However, the development of enzyme replacement therapy and oral chaperone therapy offers hope and potential solutions to manage the symptoms and reduce the progression of the disease.

Enzyme replacement therapy, such as Fabrazyme, has demonstrated positive results in slowing the decline of renal function in patients. On the other hand, oral chaperone therapy provides an alternative treatment option that shows promise in facilitating the correct folding and transport of the deficient enzyme.

As further research and clinical trials progress, advancements in treatments for Fabry disease will continue to provide valuable insights and improve the care and management of this condition. These advancements bring hope to individuals and families affected by Fabry disease, offering a brighter future for those living with this rare disorder.