TAIPEI (TVBS News) — Taiwan's Health Promotion Administration (HPA, 國民健康署) is exploring the expansion of its government-funded newborn screening program. The NPA head expressed on Sunday (March 16) a commitment to improving these vital services, highlighting the potential inclusion of Pompe disease. While the current program screens for 21 conditions, Pompe disease remains a self-funded test, prompting calls for its integration into public health services.
Niu Dau-ming (牛道明), director of the Rare Disease Medical Research Center (罕見疾病治療中心) at Taipei Veterans General Hospital (臺北榮民總醫院), explained that Pompe disease is a rare genetic neuromuscular disorder. Caused by mutations in the GAA gene, the disease disrupts the breakdown of glycogen, leading to progressive muscle damage that can eventually impact the heart and respiratory muscles.
Pompe disease affects approximately one in 35,000 to 45,000 newborns in Taiwan. Treatment involves enzyme replacement therapy every one to two weeks. Taiwan's healthcare system has demonstrated remarkable responsiveness in diagnosing and treating suspected cases. Newborns receive a diagnosis within six hours of hospital admission and begin enzyme therapy at an average of 9.7 days old, a speed lauded by international experts as a "miracle" in rare disease treatment. Including Pompe disease in government-funded screenings could further enhance early intervention and improve outcomes for affected infants.