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Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study

C I van Capelle1, N A M E van der Beek, M L C Hagemans

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

Neuromuscular Disorders : NMD
|September 7, 2010
PubMed

Insights

Recombinant human alpha-glucosidase treatment in children with Pompe disease showed stable pulmonary function and increased muscle strength over three years. No patients deteriorated, suggesting potential benefits for older children with this rare neuromuscular disorder.

Area of Science:

  • Neuromuscular Disorders
  • Enzyme Replacement Therapy
  • Rare Diseases

Background:

  • Pompe disease is a rare neuromuscular disorder caused by acid alpha-glucosidase deficiency.
  • Recombinant human alpha-glucosidase (rhGAA) is approved for infants, showing prolonged survival.
  • Efficacy in older children with Pompe disease requires further evaluation.

Purpose of the Study:

  • To evaluate the response to rhGAA in older children (5.9-15.2 years) with Pompe disease.
  • To assess changes in pulmonary function and muscle strength over a 3-year treatment period.

Main Methods:

  • Open-label study involving five pediatric patients with Pompe disease.
  • Patients received 20 mg/kg of rhGAA every two weeks for three years.
  • Evaluated pulmonary function (upright and supine) and muscle strength using Quick Motor Function Test; compared with historical cohorts.

Main Results:

  • Pulmonary function remained stable in four patients and slightly improved in one.
  • Muscle strength increased in all patients, though only one approached normal range.
  • No infusion-associated reactions were observed; no patients deteriorated during the study.

Conclusions:

  • Three-year rhGAA treatment appears safe and potentially beneficial for older children with Pompe disease.
  • Treatment stabilized pulmonary function and improved muscle strength, contrasting with natural disease progression.
  • Further studies are needed to confirm long-term efficacy and benefits in this population.

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