Management Guidelines for Mucopolysaccharidosis VI

Giugliani, Roberto; Harmatz, Paul; Wraith, J. E.

doi:10.1542/peds.2006-2184

Cited by 226 publications

(289 citation statements)

References 68 publications

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“…Further investigations are needed to study if early diagnosis coupled with ERT initiation and long-term treatment may help avoid or mitigate the growth failure seen in MPS VI patients. The challenge is early recognition, and ultimately early diagnosis will depend on the development and initiation of newborn screening programs (Giugliani et al 2007). MPS VI-specific growth charts will be an important tool to monitor growth outcomes in these ERT-treated patients.…”

Section: Discussionmentioning

confidence: 99%

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

et al. 2014

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Background: The skeletal phenotype of mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure.Objective: The purpose of this study was to construct reference growth curves for MPS VI patients with rapidly and slowly progressive disease.Methods: We pooled cross-sectional and longitudinal height for age data from galsulfase (Naglazyme ® , BioMarin Pharmaceutical Inc.), treatment naïve patients (n ¼ 269) who participated in various MPS VI studies, including galsulfase clinical trials and their extension programs, the MPS VI clinical surveillance program (CSP), and the MPS VI survey and resurvey studies, to construct growth charts for the MPS VI population. There were 229 patients included in this study, of which data from 207 patients 25 years of age with 513 height measurements were used for constructing reference growth curves.Results: Height for age growth curves for the 5th, 10th, 25th, 50th, 75th, 90th, and 95th percentiles were constructed for patients with rapidly and slowly progressing disease defined by the pre-enzyme replacement therapy (ERT) uGAG levels of > or 200 mg/mg creatinine. The mean (SD) pre-ERT uGAG levels were 481.0 (218.6) and 97.8 (56.3) mg/mg creatinine for the patients 25 years of age with rapidly (n ¼ 131) and slowly (n ¼ 76) progressing MPS VI disease, respectively. The median growth curves for patients with and >200 mg/mg creatinine were above and below the median (50th percentile) growth curve for the entire MPS VI population.Conclusion: MPS VI growth charts have been developed to assist in the clinical management of MPS VI patients.

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Section: Discussionmentioning

confidence: 99%

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

et al. 2014

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“…Pathogenic mutations in the arylsulfatase B (ARSB) gene lead to incomplete degradation, cellular accumulation, and increased urinary excretion of the glycosaminoglycan, dermatan sulfate. The estimated incidence of MPS VI is approximately 1:300,000 (Giugliani et al 2007).…”

Section: Discussionmentioning

confidence: 99%

“…The morbidity and mortality associated with HSCT in patients with MPS has improved since HSCT was introduced but the general results have been poor compared to the reduction in morbidity and mortality seen in patients receiving HSCT for hemopoietic malignancies (Turbeville et al 2011). ERT with Galsulfase ® , which became available with the first trials commencing in 2002, resulted in significant improvement in endurance, respiratory, cardiovascular, and musculoskeletal function in patients with MPS VI (Hamartz et al 2008;Giugliani et al 2007).…”

Section: Discussionmentioning

confidence: 99%

Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI

et al. 2011

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Mucopolysaccharidosis type VI, MaroteauxLamy syndrome is a lysosomal storage disorder with progressive, multisystem involvement caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase leading to accumulation of the glycosaminoglycan, keratan sulfate. Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals. A combined treatment regime of ERT and hemopoietic stem cell transplantation (HSCT) has led to reduced morbidity and mortality in patients with MPS I. We have demonstrated that a treatment regime of ERT combined with HSCT in a 3-year-old girl with MPS VI provided similar benefit. This treatment regimen should be considered in the management of selected patients with MPS VI. Neither HSCT nor ERT can correct or completely prevent progression of the musculoskeletal complications. Long-term follow-up and regular assessments for these complications is necessary.

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“…The international management guidelines for MPS VI have been drafted based on the evidence from randomized, controlled trials and recommend galsulfase (recombinant human ASB; rhASB; Naglazyme ® ) enzyme replacement therapy (ERT) as the first-line, long-term therapy for treating this disease (Giugliani et al 2007). In this report, we describe the clinical evolution of Spanish monochorionic biamniotic twins with the severe form of MPS VI after galsulfase treatment.…”

Section: Introductionmentioning

confidence: 99%

Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

et al. 2016

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Mucopolysaccharidosis type VI (MPS VI) is a progressive, autosomal, recessive lysosomal disorder. This disorder, due to a deficiency in N-acetylgalactosamine-4-sulfatase (ASB), results in an accumulation of glycosaminoglycan (GAG), causing multiple organ failures. In this study, monochorionic biamniotic twins with the severe form of MPS VI underwent enzyme replacement therapy (ERT) with weekly infusions of recombinant human ASB (galsulfase) at 1 mg/kg. After 9 years of ERT, a comprehensive clinical examination was performed. Several types of biochemical, immunological, and genetic investigations were also conducted. Both twins showed the typical symptoms and signs of MPS VI at baseline, including short stature, progressive dysmorphic facial features, and dysostosis multiplex. Twin 2 presented stronger multisystemic involvement, with marked musculoskeletal, neurological, and odontological components. She also developed an ischemic spinal cord lesion after surgery, which is the first case described in the literature in Maroteaux-Lamy syndrome. However, the extent of disease was found to be equally stabilized in the two sisters, concretely the cardiac and respiratory functions and body length. The early diagnosis and treatment of MPS VI are critical for an optimal clinical outcome, and further evidence for the new treatment strategies is needed.

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Management Guidelines for Mucopolysaccharidosis VI

Cited by 226 publications

References 68 publications

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI

Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

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