AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute
Newborn Screening, Inborn Errors of Metabolism

AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute

Chia-Feng Yang1, Tzu-Hung Chu1, Ling-Yi Huang2, Hsuan-Chieh Liao3, Wen-Jue Soong1, Dau-Ming Niu1

1Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan;2Division of Nephrology, Department of Internal Medicine, Taipei City Hospital-Heping Fuyou Branch, Taipei, Taiwan;3The Chinese Foundation of Health Neonatal Screening Center, Taiwan

Background: To evaluate the outcomes of very early treatment in our patients and compare these data with other infantile-onset Pompe disease (IOPD) cohort studies.

Methods: In this nationwide program, one million newborns were screened for Pompe disease. We diagnosed IOPD in 21 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 10 days. Our patients had better biological, physical, and developmental outcomes and lower anti-rh acid alpha-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.

Keywords: Infantile-onset Pompe disease (IOPD); enzyme-replacement therapy (ERT); newborn Screening

doi: 10.21037/atm.2017.s028

Cite this article as: Yang CF, Chu TH, Huang LY, Liao HC, Soong WJ, Niu DM. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute. Ann Transl Med 2017;5(Suppl 2):AB028. doi: 10.21037/atm.2017.s028

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