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Healthcare Professionals
About MPS VI
Biochemical basis of MPS VI
Dangers of delayed diagnosis
Clinical manifestations
Identify suspicious clusters
Specialty Information: ENT
Specialty Information: Ophthalmology
Specialty Information: Radiology
Recognize the spectrum of severity
Refer
Managing MPS VI with NAGLAZYME
Disease-focused therapy
Benefits
Improved endurance – walk test
Improved endurance – stair climb
Reduced urinary GAG
Open-label extension
Dosing and administration
Infusion training video
Safety
Managing infusion
ARs
Cost concerns, billing, and reimbursement
General patient care – palliative Rx
Improving compliance
Consequences of noncompliance
Become a patient advocate
Managing expectations
Infusion
appointments
Exploring home infusions
BioMarin patient and physician support
Clinical resources
Resource library
MPS VI Clinical Surveillance Program
Patient advocacy/
support groups
Full prescribing information
References
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References
References
NAGLAZYME [Prescribing Information]. Novato, CA: BioMarin; 2005.
Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI.
Pediatrics
. 2007;120:405-418.
Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care.
J Pediatr
. 2004;144(5 Suppl):S3–S14.
Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Am J Med Genet A
. 2005;134:144–150.
Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. New York, NY: McGraw-Hill; 2001:3421–3452. vol 3.
Smith KS, Hallett KB, Hall RK, Wardrop RW, Firth N. Mucopolysaccharidosis: MPS VI and associated delayed tooth eruption.
Int J Oral Maxillofac Surg
. 1995;24:176–180.
Harmatz P, Giugliani R, Schwartz I, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a Phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
J Pediatr
. 2006;148:533-539.
Litjens T, Hopwood JJ. Mucopolysaccharidosis type VI: structural and clinical implications of mutations in N-acetylgalactosamine-4 sulfatase.
Hum Mutat
. 2001; 18:282–295.
Gunin AG. Connective tissue [fact sheet]. Department of histology at the medical school of Chuvash State University. Available at:
http://www.histol.chuvashia.com/tab-en/cont-en.htm
. Accessed May 8, 2006.
MPS I survey results: patterns in referral, diagnosis, and management of individuals with MPS I. National MPS society and Genzyme Corporation. April 2004. Available at:
http://www.mpssociety.org/content/4067/Survey_Results/
Accessed: November 3, 2008.
Heron D, Baumann C, Benichou JJ, Harpey JP, Le Merrer M. Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation.
Eur J Pediatr
. 2004;163:323-326.
Lachman RS. Radiographic detection of mucopolysaccharidoses (MPS) BioMarin White Paper. A guide to understanding Maroteaux-Lamy Syndrome: Mucopolysaccharidosis (MPS) VI. The National MPS Society, Inc.
Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management.
Arch Dis Childhood
. 1995;72:263–267.
Harmatz RP. Mucopolysaccharidosis type VI. Emedicine. December 18, 2006. Available at:
http://www.Emedicine.com/PED/topic1373.htm
Accessed: November 4, 2008.
Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase.
Pediatrics
. 2005;115:e681–e689.
Harmatz P, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, et al. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfastase.
Mol Genet Metab
. 2008. doi:10.1016/j.ymgme.2008.04.001.
Lindeke LL, Leonard BJ, Presler B, Garwick A. Family-centered care coordination for children with special needs across multiple settings.
J Pediatr Health Care
. 2002;16:290-297.
Holley UA. Social isolation: a practical guide for nurses assisting clients with chronic illness.
Rehabil Nurs
. 2007;32:51-56.
Muenzer J, Fisher A. Advances in the Treatment of Mucopolysaccharidosis Type I.
N Engl J Med
. 2004;19:1932–1934.