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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Long-term outcome and unmet needs in infantile-onset Pompe disease

Andreas Hahn1, Anne Schänzer2

  • 1Department of Child Neurology, Justus-Liebig-University, Giessen, Germany.

Annals of Translational Medicine
|August 9, 2019
PubMed

Insights

Infantile-onset Pompe disease (IOPD) is a severe condition. Enzyme replacement therapy (ERT) has improved outcomes but does not fully address the complex multisystemic nature of IOPD.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Infantile-onset Pompe disease (IOPD) is a rare genetic disorder caused by deficient acid alpha-glucosidase (GAA) activity.
  • This deficiency leads to severe hypertrophic cardiomyopathy (HCM) and skeletal muscle weakness, often resulting in early mortality.

Purpose of the Study:

  • To review the complex multisystemic phenotype of IOPD that has emerged with enzyme replacement therapy (ERT).
  • To outline current challenges and unmet needs associated with ERT for IOPD.

Main Methods:

  • Literature review of studies on IOPD and ERT.
  • Analysis of clinical outcomes and long-term effects of ERT.

Main Results:

  • ERT has improved HCM, motor function, and survival in IOPD patients since its approval in 2006.
  • ERT has revealed a more complex, multisystemic disease presentation than previously recognized.
  • Despite ERT, significant mortality and progressive motor decline persist in long-term survivors.

Conclusions:

  • ERT has transformed IOPD prognosis but has not eliminated mortality or functional decline.
  • A deeper understanding of the IOPD phenotype and ERT-related issues is crucial.
  • Addressing unmet needs is essential for improving long-term management of IOPD.

Keywords:
Infantile-onset Pompe disease (IOPD)enzyme replacement therapy (ERT)long-term outcomemusculoskeletal dysfunctionneurocognitive impairment

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