Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis

Autor Munoz-Rojas, Maria Veronica Autor UNIFESP Google Scholar
Gandelman Horovitz, Dafne Dain Google Scholar
Jardim, Laura Bannach Google Scholar
Raymundo, Marcia Google Scholar
Llerena, Juan Clinton Google Scholar
Carneiro Pacheco de Magalhaes, Tatiana de Sa Google Scholar
Vieira, Taiane Alves Google Scholar
Costa, Ronaldo Google Scholar
Kakkis, Emil Google Scholar
Giugliani, Roberto Google Scholar
Instituição Univ Fed Rio Grande do Sul
Hosp Clin
BioMarin Pharmaceut Inc
Universidade Federal de São Paulo (UNIFESP)
Fiocruz MS
Resumo In mucopolysaccharidosis VI, or Maroteaux-Lamy syndrome, deficiency of N-acetylgalactosamine 4-sulfatase leads to storage of glycosaminoglycans (GAGs) and MPS VI patients often develop spinal cord compression during the course of the disease due to GAG storage within the cervical meninges, requiring neurosurgical intervention, as intravenous (IV) enzyme replacement therapy (ERT) is not expected to cross the blood-brain barrier. We report the use of intrathecal (IT) recombinant human N-acetylgalactosamine 4-sulfatase (arylsulfatase B, or ASB) in a MPS VI child with spinal cord compression whose parents initially refused the surgical treatment. Assessments were performed at baseline, with clinical, neurological and biochemical evaluations, urodynamic studies and MRI of the CNS. Changes on these parameters were evaluated after IT infusions of ASB administered monthly via lumbar puncture (LP) in a IV ERT naive patient. To our knowledge, this was the first MPS VI patient who received IT ERT. Despite significant urodynamic improvement and some neurological amelioration, the patient developed worsening of walking capacity. After IV ERT was started, the patient presented with a generalized hypotonia and a life-saving surgical fixation of the neck was then performed. the results observed on this MPS VI patient suggest that instability of the cervical vertebrae could be unmasked by IV ERT as joint storage is reduced, and the decrease in neck stiffness and stability could confound the expected improvement of SCC manifestations following IT ERT. the study of further patients, if possible in a clinical trial setting, is needed to evaluate the potential of a non-surgical IT ERT treatment of SCC for MPS VI. (C) 2009 Elsevier Inc. All rights reserved.
Assunto Pachymeningitis cervicalis
Mucopolysaccharidosis VI
Maroteaux-Lamy syndrome
Spinal cord compression
Intrathecal drug administration
Enzyme replacement therapy
Idioma Inglês
Data 2010-04-01
Publicado em Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 99, n. 4, p. 346-350, 2010.
ISSN 1096-7192 (Sherpa/Romeo, fator de impacto)
Editor Elsevier B.V.
Extensão 346-350
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000276001400002

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