Pompe Disease Diagnosis, Treatment, and Outcomes in Italy: Pompe Disease Registry Data from Italy Compared with the Rest-of-World

摘要

Background: Italian guidelines for the diagnosis, management and treatment of Pompe disease highlight the need for more data to inform decision making. The Pompe Registry is a global observational database collecting anonymous, longitudinal data on patients with Pompe disease. In this analysis, we assess diagnosis, treatment, and outcomes in Italian patients compared with the Rest-of-World (RoW) dataset from the Pompe Registry. Results: As of August 2010, there were 65 patients from Italy enrolled in the Registry, of whom 5 had symptom onset <=12 months of age (defined here as infantile onset) and 56 had symptom onset >12 months of age (denned here as late onset). Of the 795 patients in the RoW dataset, 193 and 542 had infantile- and late-onset disease, respectively. Four patients had no information available in Italy, compared to 60 patients in the RoW. The median age at diagnosis of infantile-onset disease was 1.7 months in Italy and 5.0 months in the RoW; the median age at diagnosis of late-onset disease was 37.9 years in Italy and 37.6 years in the RoW. A diagnostic enzyme assay was used in 80.0% (n=4) of infantile-onset patients, and 69.6% (n=39) of late-onset patients in Italy, compared with 90.1% (n=172) of infantile-onset and 80.7% (n=427) of late-onset patients in the RoW dataset. Dried blood spot (DBS) technology was used in 19.2% (n=33) and 12.2% (n=52) of infantile- and late-onset patients, respectively, in the RoW, whereas in Italy, DBS was not used. There were no major differences in the clinical profiles of patients in Italy and the RoW. In Italy, 80.0% (n=4) of infantile-onset patients received ERT, compared with 79.8% (n=154) in the RoW, and 53.6% (n=30) of late-onset patients had ever received ERT in Italy compared with 83.4% (n=452) in the RoW. In Italy, infants received their first ERT infusion at a median age of 3.6 months compared with 6.1 months in the RoW, and late-onset patients received their first infusion at a median age of 53 years in...