Pompe Prevalence: More common than we thought?

An analysis of Pompe newborn screening data reveals that the prevalence of Pompe disease is more than twice as high as the previously accepted rate.

The study shows that the birth prevalence of Pompe Disease is 1:18,711. The study includes over 11.6 million newborns screened through NBS programs for Pompe Disease across 8 countries and 4 continents. There is no evidence of difference across populations of European, Latin American, or Asian ancestry.

Two commonly referenced studies of Pompe prevalence are from 1998 and 1999. The studies used the carrier-frequency method. Both estimated prevalence at 1:40,000 as an update from an even older 1:100,000 estimate.

For more information please click the link below:

https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1221140/full