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

Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal storage disease with a wide disease spectrum. Clinical and biochemical improvements have been reported for MPS VI patients on enzyme replacement therapy (ERT) with rhASB (recombinant human arylsulfatase B; gal...

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Published in:	Molecular genetics and metabolism Vol. 109; no. 1; pp. 62 - 69
Main Authors:	Horovitz, Dafne D.G., Magalhães, Tatiana S.P.C., Acosta, Angelina, Ribeiro, Erlane M., Giuliani, Liane R., Palhares, Durval B., Kim, Chong A., de Paula, Ana Carolina, Kerstenestzy, Marcelo, Pianovski, Mara A.D., Costa, Maria Ione F., Santos, Francisca C., Martins, Ana Maria, Aranda, Carolina S., Neto, Jordão Correa, Holanda, Gervina Brady Moreira, Cardoso, Laércio, da Silva, Carlos A.B., Bonatti, Renata C.F., Ribeiro, Bethania F.R., Rodrigues, Maria do Carmo S., Llerena, Juan C.
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-05-2013
Subjects:	Child, Preschool Enzyme replacement therapy Enzyme Replacement Therapy - adverse effects Female Follow-Up Studies Galsulfase Humans Infant Infant, Newborn Lysosomal storage disorder Male MPS VI Mucopolysaccharidosis VI Mucopolysaccharidosis VI - enzymology Mucopolysaccharidosis VI - genetics Mucopolysaccharidosis VI - therapy N-Acetylgalactosamine-4-Sulfatase - adverse effects N-Acetylgalactosamine-4-Sulfatase - genetics N-Acetylgalactosamine-4-Sulfatase - metabolism N-Acetylgalactosamine-4-Sulfatase - therapeutic use Pediatric Recombinant Proteins - adverse effects Recombinant Proteins - genetics Recombinant Proteins - therapeutic use MPS VI Mucopolysaccharidosis VI Galsulfase Enzyme replacement therapy Pediatric Lysosomal storage disorder
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Summary:	Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal storage disease with a wide disease spectrum. Clinical and biochemical improvements have been reported for MPS VI patients on enzyme replacement therapy (ERT) with rhASB (recombinant human arylsulfatase B; galsulfase, Naglazyme®, BioMarin Pharmaceutical Inc.), making early diagnosis and intervention imperative for optimal patient outcomes. Few studies have included children younger than five years of age. This report describes 34 MPS VI patients that started treatment with galsulfase before five years of age. Data from patients who initiated treatment at <5years of age were collected from patients' medical records. Baseline and follow-up assessments of common symptoms that led to diagnosis and that were used to evaluate disease progression and treatment efficacy were evaluated. A significant negative correlation was seen with treatment with ERT and urinary GAG levels. Of those with baseline and follow-up growth data, 47% remained on their pre-treatment growth curve or moved to a higher percentile after treatment. Of the 9 patients with baseline and follow-up sleep studies, 5 remained unaffected and 1 patient initially with mild sleep apnea showed improvement. Data regarding cardiac, ophthalmic, central nervous system, hearing, surgical interventions and development are also reported. No patient discontinued treatment due to an adverse event and all that were treatment-emergent resolved. The prescribed dosage of 1mg/kg IV weekly with galsulfase ERT is shown to be safe and effective in slowing and/or improving certain aspects of the disease, although patients should be closely monitored for complications associated with the natural history of the disease, especially cardiac valve involvement and spinal cord compression. A long-term follow-up investigation of this group of children will provide further information on the benefits of early treatment as well as disease progression and treatment efficacy and safety in this young patient population. •Few studies of MPS VI include children younger than five years of age.•Report includes 34 MPS VI patients treated with galsulfase before five years of age.•ERT is safe and effective in improving certain aspects of MPS VI in <5year cohort.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1
ISSN:	1096-7192 1096-7206
DOI:	10.1016/j.ymgme.2013.02.014