Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Harmatz, P; Whitley, CB; Waber, L; Pais, R; Steiner, R; Plecko, B; Kaplan, P; Simon, J; Butensky, E; Hopwood, JJ.
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
J Pediatr. 2004; 144(5):574-580
Doi: 10.1016/j.jpeds.2004.03.018
Web of Science
PubMed
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FullText_MUG
- Co-Autor*innen der Med Uni Graz
- Plecko Barbara
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- Abstract:
- To evaluate the safety and efficacy of weekly treatment with human recombinant N-acetylgalactosamine 4-sulfatase (rhASB) in humans with mucopolysaccharidosis type VI (MPS VI). An ongoing Phase I/II, randomized, two-dose, double-blind study. Patients were randomized to weekly infusions of either high (1.0 mg/kg) or low (0.2 mg/kg) doses of rhASB. Six patients (3 male, 3 female; age 7-16 years) completed at least 24 weeks of treatment, five of this group have completed at least 48 weeks. No drug-related serious adverse events, significant laboratory abnormalities, or allergic reactions were observed in the study. The high-dose group experienced a more rapid and larger relative reduction in urinary glycosaminoglycan that was sustained through week 48. Improvements in the 6-minute walk test were observed in all patients with dramatic gains in those walking <100 meters at baseline. Shoulder range of motion improved in all patients at week 48 and joint pain improved in patients with significant pain at baseline. rhASB treatment was well-tolerated and reduced lysosomal storage as evidenced by a dose-dependent reduction in urinary glycosaminoglycan. Clinical responses were present in all patients, but the largest gains occurred in patients with advanced disease receiving high-dose rhASB.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Child -
- Dose-Response Relationship, Drug -
- Double-Blind Method -
- Female -
- Humans -
- Male -
- Mucopolysaccharidosis VI - drug therapy
- N-Acetylgalactosamine-4-Sulfatase - adverse effects
- N-Acetylgalactosamine-4-Sulfatase - pharmacology
- N-Acetylgalactosamine-4-Sulfatase - therapeutic use
- Recombinant Proteins -
- Statistics, Nonparametric -