Eric Wallace, MD, University of Alabama at Birmingham (UAB) Medical Director of Telehealth, Director of the UAB Home Dialysis Program, and co-director of the UAB Fabry Disease Clinic, discusses concerns some have about clinical trials for 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. Wallace explains, many clinical trials for Fabry disease are rooted in data from other diseases such as diabetes and chronic kidney disease. While there is certainly evidence to support the overlap between these diseases and Fabry disease, Dr. Wallace acknowledges that most rare disease trials could benefit from more data about the patient population. Unfortunately, that is often not the case given the small population, and the fact that clinical trial results are based on probabilities that may not be applicable to the single Fabry patient sitting in your office.
To learn more about Fabry disease and other lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/
