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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

B J Ebbink1, F K Aarsen, C M van Gelder

  • 1Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Neurology
|April 28, 2012
PubMed

Insights

Enzyme-replacement therapy (ERT) improves survival for infantile Pompe disease but doesn't cross the blood-brain barrier. Long-term studies show cognitive development varies, with motor function impacting early assessments.

Area of Science:

  • Neurology
  • Pediatrics
  • Genetics

Background:

  • Classic infantile Pompe disease is a severe genetic disorder affecting multiple organs, including the brain.
  • Enzyme-replacement therapy (ERT) improves survival but faces challenges crossing the blood-brain barrier.
  • Understanding long-term cognitive outcomes in treated patients is crucial.

Purpose of the Study:

  • To investigate the long-term cognitive development of children with classic infantile Pompe disease receiving ERT.
  • To assess the influence of ERT on brain function and cognitive outcomes.
  • To identify factors affecting cognitive assessment in young children with Pompe disease.

Main Methods:

  • Prospective assessment of cognitive functioning in 10 children treated with ERT since 1999.
  • Cognitive testing performed over several years, including assessments from age 5 onwards for some.
  • Brain imaging (MRI) conducted in 6 participants.

Main Results:

  • Cognitive scores varied widely (above-average to severe delay) in the first four years, influenced by motor and speech issues, and age at ERT initiation.
  • In children tested from age 5, cognitive scores improved to normal or mild delay, suggesting early motor impairment can mask cognitive ability.
  • Delayed processing speed was observed in 2 children; brain imaging showed white matter abnormalities in 4.

Conclusions:

  • Long-term survivors of classic infantile Pompe disease treated with ERT demonstrate cognitive development ranging from normal to mildly delayed by school age.
  • Cognitive function in young children (under 5) with significant motor impairment may be underestimated.
  • Early and ongoing cognitive assessment, considering motor status, is vital for managing Pompe disease.
Abstract

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