Lysosomal Storage Disease Registry Program

HS 2008-6631
Fabry disease, Gaucher disease, Lysosomal storage disorders, Pediatric, Pompe disease
Virginia Kimonis, MD
UC Irvine Medical Center, 101 The City Drive South, Orange, CA 92868

The Lysosomal Storage Disease (LSD) Registry Program (including but not limited to, Gaucher, Fabry, MPS I, and Pompe diseases) is a longitudinal, international, observational database that tracks outcomes of routine clinical practice for patients with these LSD diseases.

Data collected from these physicians will represent LSD disease practice patterns under common clinical conditions. Thus, the data collected by this international, collaborative Registry will provide information to better characterize the natural history and progression of these LSD diseases, as well as the clinical responses of patients whose physicians have prescribed ERT when ERT is available. Here at UC Irvine we will be participating in the Gaucher, Fabry, MSP I F and Pompe disease registries.

All patients with a confirmed diagnosis of their specific LSD disease are eligible for inclusion.


There are no direct benefits for participating subjects. Registry findings may provide valuable information about Gaucher, Fabry and Pompe diseases and their medical management to the study physician and other healthcare professionals.

Virginia Kimonis, MD