Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

Hendriksz, Christian J.; Giugliani, Roberto; Harmatz, Paul; Lampe, Christina; Martins, Ana María; Pastores, Gregory M.; Steiner, Robert D.; Leão‐Teles, Elisa; Valayannopoulos, Vassili

doi:10.1007/s10545-011-9410-9

Cited by 62 publications

(75 citation statements)

References 29 publications

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“…The main presenting features such as facial appearance (Figure 1e-1f), joint restriction, and short stature for patients with MPS VI in our case series were similar to those presented in the literature (5,12,14,15).…”

Section: Discussionsupporting

confidence: 86%

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

Franco

Dib

Agarwal

et al. 2017

IRDR

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Section: Discussionsupporting

confidence: 86%

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

Franco

Dib

Agarwal

et al. 2017

IRDR

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“…Several MPS and other disorders characterized by growth failure show a correlation of height for age with phenotypic severity as assessed by genotype or surrogate biomarkers (Decker et al 2010;Tarquinio et al 2010;Tylki-Szymanska et al 2010;de Ruijter et al 2013;Hendriksz et al 2013;Jurecka et al 2013). In the MPS VI population, height for age was previously reported to correspond with the pre-ERT uGAG levels (Swiedler et al 2005;Decker et al 2010).…”

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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“…It is remarkable that this patient developed a nephrotic syndrome of rapid onset just one week after surgery although prior, regular screens for proteinuria were negative . Titers of anti-rhSAB antibody were high but in the same range as in other patients receiving rhASB without renal complication [28,29]. It is likely that drugs given during the perioperative period had deleterious effects on podocyte physiological properties.…”

Section: Enzyme Replacement Therapy As a Cause Of Alloimmune Mnmentioning

confidence: 76%

A podocyte view of membranous nephropathy: from Heymann nephritis to the childhood human disease

Ronco

Dębiec

2017

Pflugers Arch - Eur J Physiol

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The podocyte is at the center of the pathogenesis of MN either by providing a source of endogenous antigens or by creating an environment favorable to deposition and accumulation of immune complexes containing exogenous (non-podocyte) antigens. The podocyte is also a victim of complement activation and antibody blocking activity against enzymes or receptors. A search for innovative drugs aimed at protecting this cell against complement activation and the effects of prolonged ER stress, has become a priority.

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Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

Cited by 62 publications

References 29 publications

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

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

A podocyte view of membranous nephropathy: from Heymann nephritis to the childhood human disease

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