Global birth prevalence of Pompe disease: A systematic review and meta-analysis

Pompe disease, also known as Glycogen storage disease type II, is an autosomal recessive disorder caused by defects in alpha-glucosidase, resulting in abnormal glycogen accumulation.

To conduct a systematic review and meta-analysis of birth prevalence of Pompe disease, the MEDLINE and EMBASE databases were searched for original research articles on the epidemiology of Pompe disease from inception until July 01, 2024. Meta-analysis was performed to estimate global birth prevalence of Pompe disease. The funnel plot was used to describe potential publication bias.

Twenty-two studies, screened out of 945 records, were included for data extraction. Studies that fulfilled inclusion criteria involved 15 areas/countries. Global birth prevalence of Pompe disease was 2.0 cases (95% CI: 1.5-2.4) per 100,000 live births. Global birth prevalence of infantile-onset Pompe disease was 1.0 cases (95% CI: 0.5-1.5) per 100,000 live births. Global birth prevalence of late-onset Pompe disease was 2.4 cases (95% CI: 1.8-3.0) per 100,000 live births. The main limitations are that no study was assessed as high-quality and approximately half of the studies were from Europe.

Quantitative data on the global epidemiology of Pompe disease could be the fundamental to evaluate the global efforts on building a better world for Pompe disease patients.