About Pompe disease
Prevalence of Pompe disease
Pompe disease occurs in various populations and ethnic groups around the world. An estimate of 1 in 40,000 is frequently cited, with about 75% of the cases attributed to the late-onset disease subtype.1,2 Populations at a higher risk include people of African American, Taiwanese, Dutch and Israeli descent.2 However, the more recent introduction of newborn screening (NBS) has produced much higher incidence rates than previously predicted, as shown in the table.
| Study | Location | N number | Incidence of Pompe disease |
|---|---|---|---|
| Tang et al., 20203 | California, United States | 453,152 | 1 in 25,200 |
| Burton et al., 20204 | Illinois, United States | 684,290 | 1 in 23,596 |
| Ficicioglu et al., 20205 | Pennsylvania, United States | 531,139 | 1 in 16,095 |
| Klug et al., 20206 | Missouri | ~467,000 | 1 in 10,152 |
| Chien et al., 20117 | Taiwan | 344,056 | 1 in 26,466* |
NB: incidence rates include both infantile-onset and late-onset disease subtypes unless otherwise stated.
*Late-onset Pompe disease only.
Further data collection with NBS in a greater number of studies will be key in gaining a more accurate understanding of Pompe disease epidemiology across the globe.2
If you suspect Pompe disease, referral to nominated ultra-specialist centre is essential so that patients can access full genetic testing and access to disease-specific therapies. Please refer to our ‘Find a specialist centre’ page to find out more.
NP-NN-GB-00011223
October 2024
- NORD. Pompe Disease. 2024. Available at: https://rarediseases.org/rare-diseases/pompe-disease/. Accessed: October 2024.
- Stevens D, Milani-Nejad S, Mozaffar T. Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview. Curr Treat Options Neurol. 2022;24(11):573-588.
- Tang H, Feuchtbaum L, Sciortino S, et al. The First Year Experience of Newborn Screening for Pompe Disease in California. Int J Neonatal Screen. 2020;6(1):9.
- Burton BK, Charrow J, Hoganson GE, et al. Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants. Int J Neonatal Screen. 2020;6(1):4.
- Ficicioglu C, Ahrens-Nicklas RC, Barch J, et al. Newborn Screening for Pompe Disease: Pennsylvania Experience. Int J Neonatal Screen. 2020;6(4):89.
- Klug TL, Swartz LB, Washburn J, Brannen C, Kiesling JL. Lessons Learned from Pompe Disease Newborn Screening and Follow-up. Int J Neonatal Screen. 2020;6(1):11.
- Chien YH, Lee NC, Huang HJ, Thurberg BL, Tsai FJ, Hwu WL. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr. 2011;158(6):1023-1027.e1.
1.
Pompe disease pathophysiology and natural history
3.
GAA gene mutations and inheritance
