Robert Hopkin, MD, Associate Professor of Clinical Pediatrics at Cincinnati Children’s Hospital Medical Center, discusses how clinicians and patients with Fabry disease choose the best treatment option.

Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.

As Dr. Hopkin explains, most patients are good candidates for enzyme replacement therapy (agalsidase beta). Chaperone therapy (migalastat), may also be a good option due to the convenience of it being an oral therapy; however, this therapy is not thought to be safe in patients with advanced kidney disease and is only effective in patients amenable to the treatment. Finally, Dr. Hopkin notes that, when treating a patient with a gene therapy, one needs to be cautious that said patient has not been exposed to the virus used as a vector in the gene therapy as this could cause a severe immune response. 

For more information about Fabry disease and other lysosomal storage disorders, visit