Patient registry for lysosomal storage diseases

Abstract

Patient registry is useful and essential for understanding of disease pathology and natural history in real world. Lysosomal Storage Diseases are ultra–rear diseases and most of them are progressive course. Recently many therapeutic interventions are developed and the prognosis is getting better. However it gets more important to elucidate the pathophysiology of the disease using patient registry to find the best way of treatment for each of the patient. Now it is a big issue how to create the patient registry which is effective for establishing natural history. I describe the situation and the hurdle for the establishing the patient registry in this section.