Chia-Feng Yang1, Chen Chang Yang2, Hsuan-Chieh Liao3, Ling-Yi Huang4, Chuan-Chi Chiang5, Hui-Chen Ho6, Chih-Jou Lai7, Tzu-Hung Chu8, Tsui-Feng Yang7, Ting-Rong Hsu8, Wen-Jue Soong8, Dau-Ming Niu9. 1. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Environmental and Occupational Health Sciences, National Yang-Ming University, Taipei, Taiwan. 2. Institute of Environmental and Occupational Health Sciences, National Yang-Ming University, Taipei, Taiwan; Division of Clinical Toxicology & Occupational Medicine, Taipei Veterans General Hospital, Taipei, Taiwan. 3. The Chinese Foundation of Health Neonatal Screening Center, Taipei, Taiwan; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan. 4. Division of Nephrology, Department of Internal Medicine, Taipei City Hospital-Heping Fuyou Branch, Taipei, Taiwan. 5. The Chinese Foundation of Health Neonatal Screening Center, Taipei, Taiwan. 6. Taipei Institute of Pathology, Taipei, Taiwan. 7. Physical Medicine and Rehabilitation Department, Taipei Veterans General Hospital, Taipei, Taiwan. 8. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. 9. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Pediatrics, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: dmniu1111@yahoo.com.tw.
Abstract
OBJECTIVE: To evaluate whether very early treatment in our patients would result in better clinical outcomes and to compare these data with other infantile-onset Pompe disease (IOPD) cohort studies. METHODS: In this nationwide program, 669,797 newborns were screened for Pompe disease. We diagnosed IOPD in 14 of these newborns, and all were treated and followed in our hospital. RESULTS: After 2010, the mean age at first enzyme-replacement therapy (ERT) was 11.92 days. Our patients had better biological, physical, and developmental outcomes and lower anti-rh acid α-glucosidase antibodies after 2 years of treatment, even compared with one group that began ERT just 10 days later than our cohort. No patient had a hearing disorder or abnormal vision. The mean age for independent walking was 11.6 ± 1.3 months, the same age as normal children. CONCLUSIONS: ERT for patients with IOPD should be initiated as early as possible before irreversible damage occurs. Our results indicate that early identification of patients with IOPD allows for the very early initiation of ERT. Starting ERT even a few days earlier may lead to better patient outcomes.
OBJECTIVE: To evaluate whether very early treatment in our patients would result in better clinical outcomes and to compare these data with other infantile-onset Pompe disease (IOPD) cohort studies. METHODS: In this nationwide program, 669,797 newborns were screened for Pompe disease. We diagnosed IOPD in 14 of these newborns, and all were treated and followed in our hospital. RESULTS: After 2010, the mean age at first enzyme-replacement therapy (ERT) was 11.92 days. Our patients had better biological, physical, and developmental outcomes and lower anti-rh acid α-glucosidase antibodies after 2 years of treatment, even compared with one group that began ERT just 10 days later than our cohort. No patient had a hearing disorder or abnormal vision. The mean age for independent walking was 11.6 ± 1.3 months, the same age as normal children. CONCLUSIONS: ERT for patients with IOPD should be initiated as early as possible before irreversible damage occurs. Our results indicate that early identification of patients with IOPD allows for the very early initiation of ERT. Starting ERT even a few days earlier may lead to better patient outcomes.
Authors: Mugdha V Rairikar; Laura E Case; Lauren A Bailey; Zoheb B Kazi; Ankit K Desai; Kathryn L Berrier; Julie Coats; Rachel Gandy; Rebecca Quinones; Priya S Kishnani Journal: Mol Genet Metab Date: 2017-09-19 Impact factor: 4.797
Authors: Tiffany House; Kevin O'Donnell; Raymond Saich; Fabio Di Pietro; Ria Broekgaarden; Allan Muir; Thomas Schaller Journal: Ann Transl Med Date: 2019-07