{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T20:33:06Z","timestamp":1720643586678},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,1,12]],"date-time":"2021-01-12T00:00:00Z","timestamp":1610409600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the <jats:italic>GALNS<\/jats:italic> gene, which leads to deficient activity of N\u2010acetylglucosamine\u20106\u2010sulfate sulfatase. MPS IVA patients usually present skeletal dysplasia, coarse features, short stature, airway obstruction, cervical spinal cord compression, dental abnormalities, and cardiac valvular alterations. Enzyme replacement therapy (ERT) with elosulfase alfa is the only disease\u2010specific treatment available for MPS IVA patients and has been shown to improve important clinical and biochemical parameters; however, little is known about the effects of ERT interruption on these patients. In this article, we report the impact of different periods of treatment interruption on clinical outcomes of 18 MPS IVA patients. All MPS IVA patients included in this case series were treated and followed up in Latin American centers and had been receiving elosulfase alfa intravenously for at least 8 months before ERT was interrupted. Different clinical parameters and assessments were evaluated at variable timepoints following therapy interruption. Altogether, our report indicates that some beneficial ERT effects in MPS IVA patients may last after different periods of treatment interruption, as cardiac and respiratory function improvements. However, worsening of important disease parameters after ERT interruption, such as the increase in uGAGs, pain, joint and skeletal aspects, and surgery indications suggests that treatment discontinuation should be avoided in order to maintain the disease as stable as possible, aiming to optimize these patients' life expectancy and quality of life.<\/jats:p>","DOI":"10.1002\/jmd2.12192","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T09:57:11Z","timestamp":1610704631000},"page":"104-113","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Enzyme replacement therapy interruption in mucopolysaccharidosis type <scp>IVA<\/scp> patients and its impact in different clinical outcomes"],"prefix":"10.1002","volume":"58","author":[{"given":"Juan","family":"Politei","sequence":"first","affiliation":[{"name":"Laboratorio de Neuroqu\u00edmica Dr. N. A. Chamoles Fundaci\u00f3n para el Estudio de Enfermedades Neurometab\u00f3licas (FESEN)  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gloria Liliana","family":"Porras\u2010Hurtado","sequence":"additional","affiliation":[{"name":"Clinica Comfamiliar Risaralda  Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norberto","family":"Guelbert","sequence":"additional","affiliation":[{"name":"Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad, Enfermedades Metabolicas CEMECO  C\u00f3rdoba Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Fainboim","sequence":"additional","affiliation":[{"name":"Hospital de Ni\u00f1os Ricardo Guti\u00e9rrez  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dafne Dain Gandelman","family":"Horovitz","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica M\u00e9dica Instituto Nacional de 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