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Updated: Aug 19, 2026
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study
L Klinge1, V Straub, U Neudorf
1Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany. lars.klinge@uni-essen.de
Insights
Enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA) shows sustained safety and efficacy in infantile Pompe disease (IPD) patients. This treatment improved cardiac function and motor skills, enabling survival beyond one year.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Infantile Pompe disease (IPD) is a fatal genetic disorder causing muscle wasting, diaphragmatic weakness, and cardiomyopathy.
- Lysosomal enzyme deficiency leads to severe health complications and early mortality in IPD patients.
- Currently, no effective therapies exist for infantile Pompe disease.
Purpose of the Study:
- To evaluate the long-term safety and efficacy of enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA).
- To assess the sustained effects of ERT on cardiac status and motor function in two IPD patients.
- To support further investigation into ERT for infantile-onset Pompe disease.
Main Methods:
- A 10-month follow-up study of two IPD patients previously treated with rhGAA.
- Assessment of cardiac function using left ventricular mass index and fractional shortening.
- Evaluation of motor function using the Alberta Infant Motor Scale.
Main Results:
- ERT with rhGAA was well-tolerated with no infusion-associated reactions during the follow-up period.
- Initial improvements in cardiac size and function were maintained.
- Continued improvement in motor function was observed, indicating sustained therapeutic benefit.
Conclusions:
- Enzyme replacement therapy with rhGAA demonstrates sustained safety and efficacy in infantile Pompe disease.
- ERT facilitates survival beyond the first year of life and improves key clinical outcomes.
- These findings support the continued evaluation of ERT for infantile-onset Pompe disease.
Abstract:
Infantile Pompe disease (IPD) is a fatal, autosomal recessive muscle-wasting disorder. Due to a deficiency of the lysosomal enzyme acid alpha-glucosidase patients develop a generalized myopathy, diaphragmatic weakness, and cardiomyopathy leading to death usually within the first year of life. So far there is no therapy available. We report on the safety and efficacy of transgenically derived recombinant human precursor acid alpha-glucosidase (rhGAA) in a 10-month follow-up study in two children with IPD who previously completed a 48-week course of enzyme replacement therapy (ERT) with the same medication at the same dose in a phase II clinical trial. Under this therapy cardiac status and muscle strength had improved, leading to survival beyond the age of one year. These results, together with data from two other phase II clinical trials encouraged further evaluation of the long-term safety and efficacy of enzyme replacement therapy in patients with infantile-onset Pompe disease. During the 10-month follow-up period, ERT was well-tolerated and neither patient experienced a single infusion-associated reaction. The initial improvements in cardiac size and function, as measured by left ventricular mass index and the fractional shortening, were maintained in both patients, and a continued improvement of motor function, as measured by the Alberta infant motor scale, was observed.
