KMU Hospital has achieved another international milestone in rare disease treatment. As the only Taiwanese institution participating in a multinational clinical trial for pre-symptomatic infants with spinal muscular atrophy (SMA), KMU Hospital collaborated with medical centers from 10 countries, with results published in the prestigious The New England Journal of Medicine (NEJM). This accomplishment highlights Taiwan’s expertise and influence in global rare disease research.

In addition to its landmark publication in The New England Journal of Medicine, Kaohsiung Medical University Chung-Ho Memorial Hospital (KMU Hospital) and its partners have achieved another milestone with their five-year spinal muscular atrophy (SMA) newborn screening program. The results, published in the prestigious Orphanet Journal of Rare Diseases, serve as a vital global reference for rare disease prevention. Led by Professor Yu-Chih Chung of KMU Hospital’s Department of Pediatrics, in collaboration with the Health Promotion Foundation and Taipei Pathology Center, the study screened 446,966 newborns in Taiwan for SMA from 2017 to 2022, confirming 23 cases with long-term follow-up. Among the 19 surviving cases tracked over five years, all infants with two SMN2 copies developed symptoms within 62 days, while those with three copies developed symptoms within one year. These findings confirm that early diagnosis and treatment significantly improve neurological and motor development, alleviating burdens on families and society.