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24-months results in two adults with Pompe disease on enzyme replacement therapy.
Clin Neurol Neurosurg 2011; 113(5):350-7CN

Abstract

OBJECTIVE

Late-onset Pompe disease is a slowly progressive disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Since 2006, an intravenous enzyme replacement therapy (ERT) with Myozyme™ (alglucosidase alfa) is available but long-term experience with ERT in late-onset Pompe disease is still limited.

METHODS

Two adult patients with impaired walking ability and disease duration of 10 and 13 years, respectively received ERT over a period of 24 months. Clinical and functional parameters including dynamometer-based assessment of proximal muscle strength were registered longitudinally.

RESULTS

In both patients some gain in function and physical endurance could be observed which was collaborated by stable dynamometer tests. No serious adverse events occurred and no patient required de novo ventilation.

CONCLUSION

The clinical results from our data base imply that long term enzyme replacement therapy seems to somewhat affect functionality and quality of life and can stabilize the otherwise progressive disease course in patients with late-onset Pompe disease.

Authors+Show Affiliations

Department of Neurology, Medical Faculty, Otto-von-Guericke-University, Leipziger Str. 44, D-39120 Magdeburg, Germany. stefan.vielhaber@med.ovgu.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

21477922

Citation

Vielhaber, Stefan, et al. "24-months Results in Two Adults With Pompe Disease On Enzyme Replacement Therapy." Clinical Neurology and Neurosurgery, vol. 113, no. 5, 2011, pp. 350-7.
Vielhaber S, Brejova A, Debska-Vielhaber G, et al. 24-months results in two adults with Pompe disease on enzyme replacement therapy. Clin Neurol Neurosurg. 2011;113(5):350-7.
Vielhaber, S., Brejova, A., Debska-Vielhaber, G., Kaufmann, J., Feistner, H., Schoenfeld, M. A., & Awiszus, F. (2011). 24-months results in two adults with Pompe disease on enzyme replacement therapy. Clinical Neurology and Neurosurgery, 113(5), pp. 350-7. doi:10.1016/j.clineuro.2010.09.016.
Vielhaber S, et al. 24-months Results in Two Adults With Pompe Disease On Enzyme Replacement Therapy. Clin Neurol Neurosurg. 2011;113(5):350-7. PubMed PMID: 21477922.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 24-months results in two adults with Pompe disease on enzyme replacement therapy. AU - Vielhaber,Stefan, AU - Brejova,Andrea, AU - Debska-Vielhaber,Grazyna, AU - Kaufmann,Joern, AU - Feistner,Helmut, AU - Schoenfeld,Mircea A, AU - Awiszus,Friedemann, Y1 - 2011/04/07/ PY - 2009/07/29/received PY - 2010/09/24/revised PY - 2010/09/27/accepted PY - 2011/4/12/entrez PY - 2011/4/12/pubmed PY - 2011/9/7/medline SP - 350 EP - 7 JF - Clinical neurology and neurosurgery JO - Clin Neurol Neurosurg VL - 113 IS - 5 N2 - OBJECTIVE: Late-onset Pompe disease is a slowly progressive disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Since 2006, an intravenous enzyme replacement therapy (ERT) with Myozyme™ (alglucosidase alfa) is available but long-term experience with ERT in late-onset Pompe disease is still limited. METHODS: Two adult patients with impaired walking ability and disease duration of 10 and 13 years, respectively received ERT over a period of 24 months. Clinical and functional parameters including dynamometer-based assessment of proximal muscle strength were registered longitudinally. RESULTS: In both patients some gain in function and physical endurance could be observed which was collaborated by stable dynamometer tests. No serious adverse events occurred and no patient required de novo ventilation. CONCLUSION: The clinical results from our data base imply that long term enzyme replacement therapy seems to somewhat affect functionality and quality of life and can stabilize the otherwise progressive disease course in patients with late-onset Pompe disease. SN - 1872-6968 UR - https://www.unboundmedicine.com/medline/citation/21477922/24_months_results_in_two_adults_with_Pompe_disease_on_enzyme_replacement_therapy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0303-8467(10)00308-2 DB - PRIME DP - Unbound Medicine ER -