This study includes over 11.6M newborns screened (NBS) for Pompe Disease (PD) from 29 distinct universal screening programs across 8 countries and 4 continents. The birth prevalence of Pompe Disease is 1:18,711, with no evidence of difference across populations of European, Latin American, or Asian ancestry, though differences may exist for Pompe Disease subtypes. This study also compares these results, based on direct detection of disease and analyzed using a binomial method along with power analysis, with other methods for estimating the ‘frequency’ of rare genetic diseases.
The primary objective of this study is to establish a new figure for prevalence at birth for Pompe disease by collecting and analyzing the largest relevant dataset to date. The other objective is to compare these results to previous analyses to offer a framework for evaluating ‘frequency’ data that can be applied to other rare, genetic diseases, along with methods to assess quality of estimates. Read the full article here.