Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI

Horovitz, Dafne Dain Gandelman; Magalhães, Tatiana S.P.C.; Acosta, Angelina Xavier; Ribeiro, Erlane Marques; Giuliani, Liane de Rosso; Palhares, Durval Batista; Kim, Chong; Paula, Ana; Kerstenestzy, Marcelo; Pianovski, Mara Albonei Dudeque; Costa, Maria Ione F.; Santos, Francisca C.; Martins, Ana María; Aranda, Carolina Sánchez; Neto, Jordão Corrêa; Holanda, Gervina Brady Moreira; Cardoso, Laercio; Silva, Carlos A. B. da; Bonatti, Renata Cristina Franzon; Ribeiro, Bethania F.R.; Rodrigues, Maria do Carmo; Llerena, Juan Clinton

doi:10.1016/j.ymgme.2013.02.014

Cited by 38 publications

(49 citation statements)

References 17 publications

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“…However, the initiation of therapy before this age may have additional benefits and/or prevent some complications (McGill et al, 2010;Furujo et al, 2011;Horovitz et al, 2013). This study presents follow-up data for two Brazilian siblings diagnosed with MPS VI, enabling a comparison of clinical and laboratory outcomes of the effects of ERT initiated at different ages.…”

Section: Discussionmentioning

confidence: 99%

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

Soares

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Mucopolysaccharidosis type VI (MPS VI)is an autosomal recessive multisystem lysosomal storage disorder, which is characterized by the deficiency of the enzyme arylsulfatase B encoded by the ARSB gene. Treatment of this disease with enzyme-replacement therapy (ERT) improves the clinical status of and generates hope for MPS VI patients. However, only few reports on patients with MPS VI treated before 5 years of age have been published. Thus, the objective of this study was to compare the clinical parameters of two sisters affected by MPS VI who started ERT at different ages (9 years and 1 year 5 months, respectively) and to determine the most relevant clinical impacts of early treatment after 85 months of evaluation. The treatment was well tolerated by both siblings. ERT in the younger sibling resulted in increased growth, an improved 6-minute walk test, less coarse face, slower progression of cardiac valve disease, and the absence of compressive myelopathy compared to that in her older sister. On the other hand, the older sibling had typical MPS VI phenotypic features before the commencement of ERT. Corneal clouding, clawed hands, and progressive skeletal changes were observed in both siblings despite the treatment. Both siblings displayed reduced frequencies of upper respiratory infections and apnea indices. This study emphasizes that early diagnosis and treatment of MPS VI are critical for a better disease outcome and to enhance the quality of life for these patients.

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Section: Discussionmentioning

confidence: 99%

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

Soares

et al. 2016

Genet. Mol. Res.

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“…The manifestations of heart disease in patients with MPS VI are of great relevance due to the increased morbidity and mortality, associated with poorer quality and lower life expectancy [1][2][3][4][5][6][7][8][9]. The heart valves are the structures most affected by the disease.…”

Section: Discussionmentioning

confidence: 99%

“…Its treatment options include hematopoietic cell transplantation and ERT, which is the most commonly used. The benefit of ERT in cardiovascular complications is in delaying the natural progression of valvular disease, especially if started early (before 5 years of age) and in the absence of pre-established cardiac complications [7][8][9]. However, in order to achieve this benefit, it is of the utmost importance that the treatment be done continuously, without interruption [7].…”

Section: Discussionmentioning

confidence: 99%

“…Besides that, the genetic mutation associated with the pathology also can be identified [4] MPS VI is a broad-spectrum clinical disease, with multisystem manifestations. The myocardium and cardiac valves are structures that are frequently affected, being of great importance due to direct correlation with increased morbidity and mortality in these patients [1][2][3][4][5][6][7][8][9].…”

Section: Described In 1963 By Pierre Maroteaux and Mauricementioning

confidence: 99%

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Cardiac Complications in Maroteaux-Lamy Syndrome: Case Report

Gonçalves¹,

Landim²,

Cornélio³

et al. 2018

JPP

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MLS (Maroteaux-Lamy syndrome) or MPS VI (mucopolysaccharidosis VI) is an autosomal recessive pathology in which there is absence or low activity of the enzyme N-Acetylgalactosamine-4-Sulfatase, which hydrolyzes GAGs (glycosaminoglycans) in the body (mainly dermatan sulfate). Consequently, there occurs lysosomal deposition of GAGs in connective tissue multisystemic. Myocardium and heart valves are frequently affected structures, presenting a direct correlation with the reports of complications and deaths. Case report: RGS, male, 3 years and 2 months, diagnosed with MPS VI from the first month of life, in weekly ERT (enzyme replacement therapy) since 4 months of age (inconstant). At physical examination: normotensive, with holosystolic heart murmur 3+/6+ in mitral focus. Complementary tests: normal electrocardiogram, echocardiogram with pronounced mitral regurgitation, concentric left ventricular hypertrophy of moderate degree and mild aortic insufficiency. Discussion: Mitral valve disease is common in patients with MLS. Conditions such as cardiomyopathy, fibroelastosis, aneurysm and pulmonary hypertension may occur in these patients, indicative of morbidity and mortality. Early and constant ERT may be useful in slowing a progression of heart disease. Conclusions: follow-up with a cardiologist is important to evaluate the progression of cardiac complications in MPS VI. Constant and early ERT provides better prognosis for these patients.

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“…Infusion-related reactions were described in several studies and case reports, but probable IgE-mediated allergy has been reported only in one patient. Frequently observed reactions were mild to moderate infusion-related reactions, which were easily resolved by slowing or temporary interruption of the infusion and/or administration of additional antihistamines, antipyretics, and corticosteroids (Harmatz et al 2006;Horovitz et al 2013). Here we report two children with MPS VI who experienced IgE-mediated hypersensitivity reactions with galsulfase and could receive ERT after successful rapid desensitization.…”

Section: Introductionmentioning

confidence: 99%

Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI

et al. 2016

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Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic, and multisystem lysosomal storage disease. Enzyme replacement therapy (ERT) with the recombinant human arylsulfatase B enzyme (galsulfase [Naglazyme]) is recommended as first-line therapy. It is generally reported as safe and well tolerated. Frequently observed mild to moderate infusion-related reactions which can be easily handled by reducing or interrupting the infusion and/or administering additional antihistamines, antipyretics, and corticosteroids are mostly mediated by non-IgE mechanisms. Here we report two children with MPS VI who experienced IgE-mediated reactions with galsulfase at the second year of the therapy. One child had anaphylaxis and the other had urticarial eruptions. They could receive ERT after successful rapid desensitization. To our knowledge, this is the second report on galsulfase allergy with IgE-mediated reaction. It is important to recognize IgE-mediated reactions since they can be lifethreatening and do not respond to the standard therapies.We recommend allergy skin tests in the evaluation of infusion-related reactions unresponsive to standard therapies, so that continuation of ERT will be feasible after successful desensitization. Abbreviations BWHBrigham and Women's Hospital ERT Enzyme replacement therapy GAG Glycosaminoglycan MPS VI Mucopolysaccharidosis type VI N-acetylgalactosamine -4-sulfatase

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Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI

Cited by 38 publications

References 17 publications

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

Cardiac Complications in Maroteaux-Lamy Syndrome: Case Report

Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI

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