Original ArticleLong-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
Section snippets
Methods
The Newborn Screening Center at the National Taiwan University Hospital initiated a NBS program for Pompe disease in 2005. The methods of screening, confirmatory process, criteria for initiating ERT, and follow-up have been described previously.18, 19 Patients with Pompe presenting left ventricular hypertrophy at newborn period were classified as having classic IOPD. Patients with confirmed left ventricular hypertrophy were treated with rhGAA (alglucosidase alfa) immediately, with a dosage of
Patients Diagnosed by the NBS Program
During the study period, approximately 470 000 newborns were screened.26 The overall incidence for Pompe disease was 1 in 17 000, and the incidence for classic IOPD was 1 in 52 000 and for other types was 1 in 25 000.26 In this study, we included all patients with classic IOPD identified through NBS. In total, 10 newborns were identified during this period. The short-term outcomes of patients 1-5 have been reported.18 All patients had deficient GAA activity in the lymphocytes/fibroblasts. All
Discussion
This study demonstrates better outcomes of classic IOPD in all the domains that we measured. The 10 patients identified by NBS were treated with rhGAA since birth (median 16 days, range 6-34 days). These patients had deficient GAA activity, 2 severe mutations, and left ventricular hypertrophy shortly after birth, consistent with the severe phenotype of IOPD. In comparison with previously reported patients with CRIM-positive IOPD, our treatment results are significantly better in survival,
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Supported by the National Science Council (NSC 99-2628-B-002-007-MY3) and Genzyme Corporation, a Sanofi company. Y.C. has received honoraria and travel support from Genzyme, a Sanofi Company. W.H. has received honoraria, travel support, and a research grant (xx) and serves on an advisory board for Genzyme, a Sanofi Company. The other authors declare no conflicts of interest.