Jerry Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, discusses the advantages that gene therapy has over enzyme replacement therapy (ERT) for genetic conditions such as Fabry disease.
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. Vockley explains, the current standard of care for Fabry disease is ERT that requires lifelong biweekly infusions. Not only is this therapy burdensome for the patient, the patient’s immune system may also generate inhibitors against the replacement factor, negating the treatment benefit. Gene therapies, such as investigational AAV gene therapy, 4D-310, are an attractive alternative for diseases like Fabry disease since patients will no longer require biweekly infusions. Gene therapy also has the potential to be a curative therapy.
For more information about Fabry disease and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/
