Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Paul Harmatz, Chester B. Whitley, Lewis Waber, Ray Pais, Robert Steiner, Barbara Plecko, Paige Kaplan, Julie Simon, Ellen Butensky, John J. Hopwood

Research output: Contribution to journalArticle

215 Citations (Scopus)

Abstract

Objectives: 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). Study design: 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. Results: 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. Conclusions: 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.

LanguageEnglish
Pages574-580
Number of pages7
JournalJournal of Pediatrics
Volume144
Issue number5
DOIs
Publication statusPublished - 1 Jan 2004

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Harmatz, P., Whitley, C. B., Waber, L., Pais, R., Steiner, R., Plecko, B., ... Hopwood, J. J. (2004). Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Journal of Pediatrics, 144(5), 574-580. https://doi.org/10.1016/j.jpeds.2004.03.018
Harmatz, Paul ; Whitley, Chester B. ; Waber, Lewis ; Pais, Ray ; Steiner, Robert ; Plecko, Barbara ; Kaplan, Paige ; Simon, Julie ; Butensky, Ellen ; Hopwood, John J. / Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). In: Journal of Pediatrics. 2004 ; Vol. 144, No. 5. pp. 574-580.
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Harmatz, P, Whitley, CB, Waber, L, Pais, R, Steiner, R, Plecko, B, Kaplan, P, Simon, J, Butensky, E & Hopwood, JJ 2004, 'Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)', Journal of Pediatrics, vol. 144, no. 5, pp. 574-580. https://doi.org/10.1016/j.jpeds.2004.03.018

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). / Harmatz, Paul; Whitley, Chester B.; Waber, Lewis; Pais, Ray; Steiner, Robert; Plecko, Barbara; Kaplan, Paige; Simon, Julie; Butensky, Ellen; Hopwood, John J.

In: Journal of Pediatrics, Vol. 144, No. 5, 01.01.2004, p. 574-580.

Research output: Contribution to journalArticle

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AU - Hopwood, John J.

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Harmatz P, Whitley CB, Waber L, Pais R, Steiner R, Plecko B et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Journal of Pediatrics. 2004 Jan 1;144(5):574-580. https://doi.org/10.1016/j.jpeds.2004.03.018