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

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

doi:10.1016/j.jpeds.2004.03.018

Cited by 266 publications

(224 citation statements)

References 19 publications

Supporting

Mentioning

211

Contrasting

Unclassified

Order By: Relevance

“…We pooled cross-sectional and longitudinal height for age data from patients who participated in the MPS VI crosssectional Survey Study done in 2001-2002(Swiedler et al 2005; clinical trials and their extension programs, including phase 1/2, phase 2, phase 3 (Harmatz et al 2004;Harmatz et al 2005;Harmatz et al 2006;Harmatz et al 2008), and a phase 4 study ; the MPS VI clinical surveillance program (CSP; ClinicalTrials.gov: NCT00214773); and the Resurvey Study (Giugliani et al 2014) to construct growth charts for patients with the MPS VI disorder. Patients treated with galsulfase (recombinant human arylsulfatase B; rhASB; Naglazyme ® ; an enzyme replacement therapy [ERT] for MPS VI) or patients status post hematopoietic stem cell transplant (HSCT) were excluded from this analysis.…”

Section: Data Source For Integrated Height Analysismentioning

confidence: 99%

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

et al. 2014

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Data Source For Integrated Height Analysismentioning

confidence: 99%

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

et al. 2014

Self Cite

View full text Add to dashboard Cite

show abstract

“…Given the recent developments in the use of enzyme replacement therapy and cord blood transplantation for the treatment of other lysosomal storage disorders (Harmatz et al 2004;http://www.biomarinpharm.com, Muenzer et al 2002), we are currently developing tandem MS assays for Hunter syndrome, Maroteaux-Lamy syndrome and metachromic leukodystrophy. A tandem MS assay for Tay-Sachs disease has recently been developed (M. H. Gelb, unpublished).…”

Section: Development Of Tandem Ms Assays For Additional Enzymesmentioning

confidence: 99%

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

Gelb

Tureček

Scott

et al. 2006

J of Inher Metab Disea

183

140

View full text Add to dashboard Cite

SummaryTandem mass spectrometry is currently used in newborn screening programmes to quantify the level of amino acids and acylcarnitines in dried blood spots for detection of metabolites associated with treatable diseases. We have developed assays for lysosomal enzymes in re-hydrated dried blood spots in which a set of substrates is added and the set of corresponding enzymatic products are quantified using tandem mass spectrometry with the aid of mass-differentiated internal standards. We have developed a multiplex assay of the set of enzymes that, when deficient, cause the lysosomal storage disorders Fabry, Gaucher, Hurler, Krabbe, Niemann-Pick A/B and Pompe diseases. These diseases were selected because treatments are now available or expected to emerge shortly. The discovery that acarbose is a selective inhibitor of maltase glucoamylase allows the Pompe disease enzyme, acid α-glucosidase, to be selectively assayed in white blood cells and dried blood spots. When tested with dried blood spots from 40 unaffected individuals and 10-12 individuals with the lysosomal storage disorder, the tandem mass spectrometry assay led to the correct identification of the affected individuals with 100% sensitivity. Many of the reagents needed for the new assays are commercially available, and those that are not are being prepared under Good Manufacturing Procedures for approval by the FDA. Our newborn screening assay for Krabbe disease is currently being put in place at the Wadsworth Center in New York State for the analysis of ~1000 dried blood spots per day.Summary We have developed tandem mass spectrometry for the direct assay of lysosomal enzymes in rehydrated dried blood spots that can be implemented for newborn screening of lysosomal storage disorders. Several enzymes can be analysed by a single method (multiplex analysis) and in a highthroughput manner appropriate for newborn screening laboratories.

show abstract

“…Since a few years, enzyme replacement therapy (ERT, based on intravenous injection of an active form of recombinant enzyme whose deficiency causes the disease) can be used for treatment of MPS I, 4 -6 and it appears that analogous therapy should be generally available relatively soon for two other MPS types. 7,8 This therapy is effective in treatment of somatic symptoms of MPS I, MPS II and MPS VI; however, when heparan sulphate cannot be degraded, severe neurological problems may occur, which cannot be managed by ERT owing to inefficient delivery of proteins, including those used as drugs, to central nervous system, because of the bloodbrain barrier. This is the case in some MPS I patients (subtype MPS IH), most of MPS II and MPS VII patients and all MPS III patients (all subtypes, ie IIIA, IIIB, IIIC and IIID).…”

Section: Introductionmentioning

confidence: 99%

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

et al. 2006

View full text Add to dashboard Cite

Mucopolysaccharidoses (MPS) are inherited, severe, progressive, metabolic disorders caused by deficiencies in different enzymes involved in degradation of glycosaminoglycans (GAGs). Although enzyme replacement therapy (ERT) has recently been available for MPS type I, and clinical trials have been performed in ERT for MPS II and MPS VI, there is little chance that this kind of treatment may be effective for neurodegenerative forms of MPS (due to inefficient delivery of enzymes to central nervous system through the blood -brain barrier), hence currently there is no effective therapy available for them. Therefore, we aim to develop an alternative therapy for these diseases. We found that genistein (4 0 ,5, 7-trihydroxyisoflavone or 5,7-dihydroxy-3-(4-hydroxyphenyl)-4H-1-benzopyran-4-one) inhibits synthesis of GAGs considerably in cultures of fibroblasts of MPS patients (types I, II, IIIA and IIIB were tested). Prolonged cultivation of these cells in the presence of genistein resulted in reduction of GAG accumulation and normalization of cells as estimated by biochemical tests and electron microscopic analysis, respectively. As genistein inhibits kinase activity of epidermal growth factor receptor, which is required for full expression of genes coding for enzymes involved in GAG production, we propose to consider a substrate reduction therapy for MPS, which is referred to as 'gene expression-targeted isoflavone therapy'.

show abstract

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

Cited by 266 publications

References 19 publications

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

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

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

Contact Info

Product

Resources

About