Development of a disease severity scoring system for patients with Pompe disease

Introduction A Disease Severity Scoring System (DS3) measures disease burden in patients. It consists of critical health domains, each described by relevant clinical assessment(s) quantified via reliable, valid and feasible methods. DS3s are particularly useful in rare, heterogeneous diseases in which evaluating severity and prognosis is difficult. Properly configured, a DS3 provides interand intra-patient comparisons through time across critical organ systems. A DS3 is being developed for Pompe disease, a rare, autosomal recessive, and heterogenous, neuromuscular disorder.