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Enzyme replacement therapy in classical infantile Pompe disease: Results of a ten-month follow-up study

Lookup NU author(s): Dr Lars Klinge, Professor Volker StraubORCiD


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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. © Georg Thieme Verlag KG Stuttgart.

Publication metadata

Author(s): Klinge L, Straub V, Neudorf U, Voit T

Publication type: Article

Publication status: Published

Journal: Neuropediatrics

Year: 2005

Volume: 36

Issue: 1

Pages: 6-11

ISSN (print): 0174-304X

ISSN (electronic): 1439-1899

Publisher: Georg Thieme Verlag


DOI: 10.1055/s-2005-837543

PubMed id: 15776317


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