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J Pediatr. 2015 Apr;166(4):985-91.e1-2. doi: 10.1016/j.jpeds.2014.10.068. Epub 2014 Nov 4.

Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.

Author information

1
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
2
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
3
Department of Pediatrics and Medical Genetics, China Medical University Hospital, Taichung, Taiwan.
4
Department of Pediatrics, Chi-Mei Medical Center, Tainan, Taiwan.
5
Department of Physical Medicine and Rehabilitation, National Taiwan University Hospital, Taipei, Taiwan.
6
Department of Rehabilitation Medicine, Chen-Hsin Hospital, Taipei, Taiwan.
7
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
8
Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
9
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: hwuwlntu@ntu.edu.tw.

Abstract

OBJECTIVE:

To determine the benefit of newborn screening for the long-term prognosis of patients with classic infantile-onset Pompe disease (IOPD).

STUDY DESIGN:

A cohort of patients with classic IOPD were diagnosed by newborn screening, treated with recombinant human acid α-glucosidase (rhGAA), and followed prospectively. Outcome measurements included survival, left ventricular mass, serum creatinine kinase, motor function, mental development, and systemic manifestations.

RESULTS:

Ten patients who presented with left ventricular hypertrophy at diagnosis received rhGAA infusions starting at a median age of 16 days (6-34 days). All patients were cross-reactive immunologic material-positive. After a median treatment time of 63 months (range 28-90 months), all could walk independently, and none required mechanical ventilation. All patients had motor capability sufficient for participating in daily activities, but muscle weakness over the pelvic girdle appeared gradually after 2 years of age. Ptosis was present in one-half of the patients, and speech disorders were common. Anti-rhGAA antibody titers were low (median maximal titer value 1:1600, range: undetectable ∼ 1:12,800).

CONCLUSION:

By studying patients treated since birth who have no significant anti-rhGAA antibody interference, this prospective study demonstrates that the efficacy of rhGAA therapy is high and consistent for the treatment of classic IOPD. This study also exposes limitations of rhGAA treatment. The etiology of the manifestations in these early-treated patients will require further study.

PMID:
25466677
DOI:
10.1016/j.jpeds.2014.10.068
[Indexed for MEDLINE]

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