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Erschienen in:

01.09.2012 | Original Article

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

verfasst von: Caroline Regnery, Cornelia Kornblum, Frank Hanisch, Stefan Vielhaber, Nicola Strigl-Pill, Birgit Grunert, Wolfgang Müller-Felber, Franz Xaver Glocker, Matthias Spranger, Marcus Deschauer, Eugen Mengel, Benedikt Schoser

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 5/2012

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Abstract

Objectives

Glycogen storage disease type 2(GSD2)/Pompe disease is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span.

Methods

We present an open-label, investigator-initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult-onset GSD2 patients (20 female, 18 male) with a mean age at disease onset of 36.2 ± 10.5 years. Mean delay between symptom onset and start of ERT was 14.5 ± 7.2 years. Assessments included serial Walton Gardner Medwin scale, arm function tests, timed 10-meter walk tests, 4-stair climb tests, modified Gowers’ maneuvers, 6-minute walk test (6MWT), MRC sum score, forced vital capacities (FVC), creatine kinase (CK) levels, and SF-36 self-reporting questionnaires. All tests were performed at baseline and every 12 months for 36 months of ERT.

Results

In the 6MWT we found 21 patients able to walk at baseline a mean distance of 312 ± 165.5 m, improving to 344 ± 165.8 m after 12 months (p = 0.006), remaining at 356.4 ± 155.9 m at 24 months (p = 0.033), and declining to 325.6 ± 174.8 m after 36 months of ERT (p = 0.49, n.s.). The mean FVC in 28 patients was 80.27 ± 14.08% of predicted normal at baseline, after 12 months 79.19 ± 13.09%, at 24 months 78.62 ± 16.55%, and 77.19 ± 18.05% after 36 months. Only mean CK levels were significantly decreased by 8.8% (p = 0.041). All other tests were statistically non-significant changed.

Conclusion

Our data denote a rather variable course of neuromuscular deficits in chronic adult-onset Pompe patients during 36 months of alglucosidase alfa ERT.

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Titel: 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy
verfasst von: Caroline Regnery
Cornelia Kornblum
Frank Hanisch
Stefan Vielhaber
Nicola Strigl-Pill
Birgit Grunert
Wolfgang Müller-Felber
Franz Xaver Glocker
Matthias Spranger
Marcus Deschauer
Eugen Mengel
Benedikt Schoser
Publikationsdatum: 01.09.2012
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 5/2012
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-012-9451-8

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