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Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.
Neuromuscul Disord 2005; 15(1):24-31ND

Abstract

Pompe disease is an autosomal recessive muscle-wasting disorder caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase. Due to virtual absence of acid alpha-glucosidase, patients with classical infantile Pompe disease develop progressive cardiomyopathy, skeletal muscle weakness and respiratory insufficiency leading to death in early infancy. We report on the results of a phase II clinical trial including two patients with classical infantile Pompe disease receiving enzyme replacement therapy over a period of 48 weeks by weekly infusions. Recombinant acid alpha-glucosidase was derived from the milk of transgenic rabbits. Safety was evaluated by recording adverse events while clinical efficacy was evaluated by ventilator-free survival, left ventricular mass index, motor development as well as histologic and biochemical analysis of muscle biopsies. This therapy was in general well-tolerated. There was an overall improvement in left ventricular mass, cardiac function, skeletal muscle function and histological appearance of skeletal muscle.

Authors+Show Affiliations

Department of Paediatrics and Paediatric Neurology, University of Essen, Hufelandstrasse 55, 45 122 Essen, Germany. lars.klinge@uni-essen.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Clinical Trial
Clinical Trial, Phase II
Comparative Study
Journal Article

Language

eng

PubMed ID

15639117

Citation

Klinge, L, et al. "Safety and Efficacy of Recombinant Acid Alpha-glucosidase (rhGAA) in Patients With Classical Infantile Pompe Disease: Results of a Phase II Clinical Trial." Neuromuscular Disorders : NMD, vol. 15, no. 1, 2005, pp. 24-31.
Klinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord. 2005;15(1):24-31.
Klinge, L., Straub, V., Neudorf, U., Schaper, J., Bosbach, T., Görlinger, K., ... Voit, T. (2005). Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscular Disorders : NMD, 15(1), pp. 24-31.
Klinge L, et al. Safety and Efficacy of Recombinant Acid Alpha-glucosidase (rhGAA) in Patients With Classical Infantile Pompe Disease: Results of a Phase II Clinical Trial. Neuromuscul Disord. 2005;15(1):24-31. PubMed PMID: 15639117.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. AU - Klinge,L, AU - Straub,V, AU - Neudorf,U, AU - Schaper,J, AU - Bosbach,T, AU - Görlinger,K, AU - Wallot,M, AU - Richards,S, AU - Voit,T, Y1 - 2004/11/26/ PY - 2004/07/13/received PY - 2004/10/19/accepted PY - 2005/1/11/pubmed PY - 2005/3/30/medline PY - 2005/1/11/entrez SP - 24 EP - 31 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 15 IS - 1 N2 - Pompe disease is an autosomal recessive muscle-wasting disorder caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase. Due to virtual absence of acid alpha-glucosidase, patients with classical infantile Pompe disease develop progressive cardiomyopathy, skeletal muscle weakness and respiratory insufficiency leading to death in early infancy. We report on the results of a phase II clinical trial including two patients with classical infantile Pompe disease receiving enzyme replacement therapy over a period of 48 weeks by weekly infusions. Recombinant acid alpha-glucosidase was derived from the milk of transgenic rabbits. Safety was evaluated by recording adverse events while clinical efficacy was evaluated by ventilator-free survival, left ventricular mass index, motor development as well as histologic and biochemical analysis of muscle biopsies. This therapy was in general well-tolerated. There was an overall improvement in left ventricular mass, cardiac function, skeletal muscle function and histological appearance of skeletal muscle. SN - 0960-8966 UR - https://www.unboundmedicine.com/medline/citation/15639117/Safety_and_efficacy_of_recombinant_acid_alpha_glucosidase__rhGAA__in_patients_with_classical_infantile_Pompe_disease:_results_of_a_phase_II_clinical_trial_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(04)00279-2 DB - PRIME DP - Unbound Medicine ER -