Two American researchers have compiled data from the literature on newborn screening for Pompe disease worldwide:
- 29 programmes are in place and operational in eight different countries, including the United States and Taiwan,
- more than 11.6 million newborns have been screened to date,
- the incidence is 1 case in 18,711 births (i.e. 5.3 cases per 100,000 births), with little difference between the different populations tested,
- only the distribution between infantile and adult forms seems likely to vary between different geographical areas, on a national or international scale.
The authors also examined the validity and quality of the data, using highly sophisticated statistical models.
