{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T21:24:49Z","timestamp":1775597089443,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,10,24]],"date-time":"2016-10-24T00:00:00Z","timestamp":1477267200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1 TR000004"],"award-info":[{"award-number":["UL1 TR000004"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open\u2010label, phase 2, multi\u2010national study in Morquio A patients aged \u22655 years unable to walk \u226530 meters in the 6\u2010min walk test. Patients received elosulfase alfa 2.0\u2009mg\/kg\/week intravenously for 48 weeks. Efficacy measures were functional dexterity, pinch\/grip strength, mobility in a modified timed 25\u2010foot walk, pain, quality of life, respiratory function, and urine keratan sulfate (KS). Safety\/tolerability was also assessed. Fifteen patients received elosulfase alfa, three patients discontinued ERT due to adverse events (two were grade 3 drug\u2010related adverse events, the other was not drug\u2010related), and two patients missed &gt;20% of planned infusions; 10 completed treatment through 48 weeks and received \u226580% of planned infusions (Modified Per Protocol [MPP] population). The study population had more advanced disease than that enrolled in other trials. From baseline to week 48, MPP data showed biochemical efficacy (urine KS decreased 52.4%). The remaining efficacy results were highly variable due to challenges in test execution because of severe skeletal and joint abnormalities, small sample sizes, and clinical heterogeneity among patients. Eight patients showed improvements in one or more outcome measures; several patients indicated improvements not captured by the study assessments (e.g., increased energy, functional ability). The nature of adverse events was similar to other elosulfase alfa studies. This study illustrates the considerable challenges in objectively measuring impact of ERT in very disabled Morquio A patients and highlights the need to examine results on an individual basis. \u00a9 2016 The Authors. <jats:italic>American Journal of Medical Genetics Part A<\/jats:italic> Published by Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38014","type":"journal-article","created":{"date-parts":[[2016,10,24]],"date-time":"2016-10-24T06:12:54Z","timestamp":1477289574000},"page":"375-383","source":"Crossref","is-referenced-by-count":26,"title":["Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open\u2010label, phase 2 study"],"prefix":"10.1002","volume":"173","author":[{"given":"Paul R.","family":"Harmatz","sequence":"first","affiliation":[{"name":"UCSF Benioff Children's Hospital Oakland Oakland California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugen","family":"Mengel","sequence":"additional","affiliation":[{"name":"Mainz University Medical Center Mainz Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarekegn","family":"Geberhiwot","sequence":"additional","affiliation":[{"name":"New Queen Elizabeth Hospital Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Muschol","sequence":"additional","affiliation":[{"name":"University Hospital Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian J.","family":"Hendriksz","sequence":"additional","affiliation":[{"name":"Salford Royal Foundation NHS Trust Salford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara K.","family":"Burton","sequence":"additional","affiliation":[{"name":"Ann &amp; Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine Chicago Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Jameson","sequence":"additional","affiliation":[{"name":"Willink Unit Manchester Centre for Genomic Medicine Manchester Academic Health Sciences Centre St Mary's Hospital University of Manchester, CMFT Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth I.","family":"Berger","sequence":"additional","affiliation":[{"name":"NY University School of Medicine New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Jester","sequence":"additional","affiliation":[{"name":"Birmingham Children's Hospital Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marsha","family":"Treadwell","sequence":"additional","affiliation":[{"name":"UCSF Benioff Children's Hospital Oakland Oakland California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zlatko","family":"Sisic","sequence":"additional","affiliation":[{"name":"BioMarin Europe Ltd. London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celeste","family":"Decker","sequence":"additional","affiliation":[{"name":"BioMarin Pharmaceutical Inc. Novato California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,10,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0894-1130(03)80019-4"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2014_396"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37172"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004694-199809000-00001"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2013.08.123"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.01.021"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.11.076"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9459-0"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9715-6"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-32"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36833"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.08.012"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010016"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.05.018"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pmn.2013.03.002"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0894-1130(03)80020-0"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181dbb884"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1443"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181dbb571"},{"key":"e_1_2_8_21_1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.3233\/PRM-2010-0112","article-title":"Musculoskeletal health in Hunter disease (MPS II): ERT improves functional outcomes","volume":"3","author":"White KK","year":"2010","journal-title":"J Pediatr Rehabil Med"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38014","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38014","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38014","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T18:48:44Z","timestamp":1694717324000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,24]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1002\/ajmg.a.38014"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38014","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,24]]}}}