Priya Kishnani, MD, Duke University School of Medicine, speaks to the rare disease patient community and says ‘their time has come’.
Dr. Kishnani was speaking largely to the patient advocacy groups associated with lysosomal storage diseases, like Pompe disease, who have been instrumental in helping researchers conduct studies to better understand these conditions and to find better treatments.
Pompe disease is an inherited lysosomal storage disorder in which mutation in the GAA gene leads reduced levels of the GAA enzyme. The net result is a buildup of glycogen in the body’s cells. The accumulation of glycogen, especially in muscles, can lead to a plethora of problems.
To learn more about Pompe disease, visit checkrare.com/pompe.