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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Natural History and Galsulfase Treatment in Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome) — 10 Year Follow-up of Patients Who Previously Participated in an MPS VI Survey Study</title><author><name sortKey="Giugliani, Roberto" sort="Giugliani, Roberto" uniqKey="Giugliani R" first="Roberto" last="Giugliani">Roberto Giugliani</name><affiliation><nlm:aff id="A1">Medical Genetics Service, HCPA, Department of Genetics, UFRGS, and INAGEMP, Porto Alegre, Brazil</nlm:aff></affiliation></author><author><name sortKey="Lampe, Christina" sort="Lampe, Christina" uniqKey="Lampe C" first="Christina" last="Lampe">Christina Lampe</name><affiliation><nlm:aff id="A2">Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the University of Mainz, Germany</nlm:aff></affiliation></author><author><name sortKey="Guffon, Nathalie" sort="Guffon, Nathalie" uniqKey="Guffon N" first="Nathalie" last="Guffon">Nathalie Guffon</name><affiliation><nlm:aff id="A3">Hôpital Femme Mère Enfant, Bron, France</nlm:aff></affiliation></author><author><name sortKey="Ketteridge, David" sort="Ketteridge, David" uniqKey="Ketteridge D" first="David" last="Ketteridge">David Ketteridge</name><affiliation><nlm:aff id="A4">Women’s and Children’s Hospital, North Adelaide, Australia</nlm:aff></affiliation></author><author><name sortKey="Teles, Elisa Leao" sort="Teles, Elisa Leao" uniqKey="Teles E" first="Elisa Leão" last="Teles">Elisa Leão Teles</name><affiliation><nlm:aff id="A5">Hospital Pediátrico Integrado, Centro Hospitalar de S. João, Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Wraith, James E" sort="Wraith, James E" uniqKey="Wraith J" first="James E." last="Wraith">James E. Wraith</name><affiliation><nlm:aff id="A6">Manchester Children’s Hospital, Centre for Genomic Medicine, St Mary’s Hospital, CMFT, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Jones, Simon A" sort="Jones, Simon A" uniqKey="Jones S" first="Simon A" last="Jones">Simon A. Jones</name><affiliation><nlm:aff id="A6">Manchester Children’s Hospital, Centre for Genomic Medicine, St Mary’s Hospital, CMFT, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Piscia Nichols, Cheri" sort="Piscia Nichols, Cheri" uniqKey="Piscia Nichols C" first="Cheri" last="Piscia-Nichols">Cheri Piscia-Nichols</name><affiliation><nlm:aff id="A7">BioMarin Pharmaceutical Inc., Novato, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Lin, Ping" sort="Lin, Ping" uniqKey="Lin P" first="Ping" last="Lin">Ping Lin</name><affiliation><nlm:aff id="A7">BioMarin Pharmaceutical Inc., Novato, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Quartel, Adrian" sort="Quartel, Adrian" uniqKey="Quartel A" first="Adrian" last="Quartel">Adrian Quartel</name><affiliation><nlm:aff id="A7">BioMarin Pharmaceutical Inc., Novato, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Harmatz, Paul" sort="Harmatz, Paul" uniqKey="Harmatz P" first="Paul" last="Harmatz">Paul Harmatz</name><affiliation><nlm:aff id="A8">Children’s Hospital & Research Center Oakland, Oakland, CA, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24764221</idno><idno type="pmc">4107078</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107078</idno><idno type="RBID">PMC:4107078</idno><idno type="doi">10.1002/ajmg.a.36584</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001E29</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E29</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Natural History and Galsulfase Treatment in Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome) — 10 Year Follow-up of Patients Who Previously Participated in an MPS VI Survey Study</title><author><name sortKey="Giugliani, Roberto" sort="Giugliani, Roberto" uniqKey="Giugliani R" first="Roberto" last="Giugliani">Roberto Giugliani</name><affiliation><nlm:aff id="A1">Medical Genetics Service, HCPA, Department of Genetics, UFRGS, and INAGEMP, Porto Alegre, Brazil</nlm:aff></affiliation></author><author><name sortKey="Lampe, Christina" sort="Lampe, Christina" uniqKey="Lampe C" first="Christina" last="Lampe">Christina Lampe</name><affiliation><nlm:aff id="A2">Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the University of Mainz, Germany</nlm:aff></affiliation></author><author><name sortKey="Guffon, Nathalie" sort="Guffon, Nathalie" uniqKey="Guffon N" first="Nathalie" last="Guffon">Nathalie Guffon</name><affiliation><nlm:aff id="A3">Hôpital Femme Mère Enfant, Bron, France</nlm:aff></affiliation></author><author><name sortKey="Ketteridge, David" sort="Ketteridge, David" uniqKey="Ketteridge D" first="David" last="Ketteridge">David Ketteridge</name><affiliation><nlm:aff id="A4">Women’s and Children’s Hospital, North Adelaide, Australia</nlm:aff></affiliation></author><author><name sortKey="Teles, Elisa Leao" sort="Teles, Elisa Leao" uniqKey="Teles E" first="Elisa Leão" last="Teles">Elisa Leão Teles</name><affiliation><nlm:aff id="A5">Hospital Pediátrico Integrado, Centro Hospitalar de S. João, Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Wraith, James E" sort="Wraith, James E" uniqKey="Wraith J" first="James E." last="Wraith">James E. Wraith</name><affiliation><nlm:aff id="A6">Manchester Children’s Hospital, Centre for Genomic Medicine, St Mary’s Hospital, CMFT, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Jones, Simon A" sort="Jones, Simon A" uniqKey="Jones S" first="Simon A" last="Jones">Simon A. Jones</name><affiliation><nlm:aff id="A6">Manchester Children’s Hospital, Centre for Genomic Medicine, St Mary’s Hospital, CMFT, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Piscia Nichols, Cheri" sort="Piscia Nichols, Cheri" uniqKey="Piscia Nichols C" first="Cheri" last="Piscia-Nichols">Cheri Piscia-Nichols</name><affiliation><nlm:aff id="A7">BioMarin Pharmaceutical Inc., Novato, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Lin, Ping" sort="Lin, Ping" uniqKey="Lin P" first="Ping" last="Lin">Ping Lin</name><affiliation><nlm:aff id="A7">BioMarin Pharmaceutical Inc., Novato, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Quartel, Adrian" sort="Quartel, Adrian" uniqKey="Quartel A" first="Adrian" last="Quartel">Adrian Quartel</name><affiliation><nlm:aff id="A7">BioMarin Pharmaceutical Inc., Novato, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Harmatz, Paul" sort="Harmatz, Paul" uniqKey="Harmatz P" first="Paul" last="Harmatz">Paul Harmatz</name><affiliation><nlm:aff id="A8">Children’s Hospital & Research Center Oakland, Oakland, CA, USA</nlm:aff></affiliation></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N-acetlylgalactosamine-4-sulfatase activity. A cross-sectional Survey Study in individuals (n=121) affected with MPS VI was conducted between 2001–2002 to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of disease. We conducted a Resurvey Study (<ext-link ext-link-type="uri" xlink:href="http://ClinicalTrials.gov">ClinicalTrials.gov</ext-link>: NCT01387854) to obtain 10-year follow-up data, including medical histories and clinical assessments (n=59), and survival status over 12-years (n=117). Patients received a mean (SD) of 6.8 (2.2) years of galsulfase ERT between baseline (Survey Study) and follow-up. ERT patients increased in height by 20.4 cm in the 4–7 year-old baseline age group and by 16.8 cm in the 8–12 year-old baseline age group. ERT patients <13 years old demonstrated improvement in forced vital capacity (FVC) by 68% and forced expiratory volume in 1 second (FEV1) by 55%, and those ≥13 years old increased FVC by 12.8% and maintained FEV1. Patients with >200 µg/mg baseline uGAG levels increased FVC by 48% in the <13 year-old and by 15% in the ≥13 year-old baseline age group. ERT patients who completed the 6-minute walk test demonstrated a mean (SD) increase of 65.7 (100.6) m. Cardiac outcomes did not significantly improve or worsen. Observed mortality rate among naïve patients was 50% (7/14) and 16.5% (17/103) in the ERT group (unadjusted hazard ratio, 0.24; 95% CI, 0.10 to 0.59). Long-term galsulfase ERT was associated with improvements in pulmonary functions and endurance, stabilized cardiac function and increased survival.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101235741</journal-id><journal-id journal-id-type="pubmed-jr-id">32200</journal-id><journal-id journal-id-type="nlm-ta">Am J Med Genet A</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Med. Genet. A</journal-id><journal-title-group><journal-title>American journal of medical genetics. Part A</journal-title></journal-title-group><issn pub-type="ppub">1552-4825</issn><issn pub-type="epub">1552-4833</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24764221</article-id><article-id pub-id-type="pmc">4107078</article-id><article-id pub-id-type="doi">10.1002/ajmg.a.36584</article-id><article-id pub-id-type="manuscript">NIHMS582299</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Natural History and Galsulfase Treatment in Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome) — 10 Year Follow-up of Patients Who Previously Participated in an MPS VI Survey Study</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Giugliani</surname><given-names>Roberto</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><contrib contrib-type="author"><name><surname>Lampe</surname><given-names>Christina</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Guffon</surname><given-names>Nathalie</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Ketteridge</surname><given-names>David</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Teles</surname><given-names>Elisa Leão</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Wraith</surname><given-names>James E.</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>Simon A</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Piscia-Nichols</surname><given-names>Cheri</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Lin</surname><given-names>Ping</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Quartel</surname><given-names>Adrian</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Harmatz</surname><given-names>Paul</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib></contrib-group><aff id="A1"><label>1</label>Medical Genetics Service, HCPA, Department of Genetics, UFRGS, and INAGEMP, Porto Alegre, Brazil</aff><aff id="A2"><label>2</label>Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the University of Mainz, Germany</aff><aff id="A3"><label>3</label>Hôpital Femme Mère Enfant, Bron, France</aff><aff id="A4"><label>4</label>Women’s and Children’s Hospital, North Adelaide, Australia</aff><aff id="A5"><label>5</label>Hospital Pediátrico Integrado, Centro Hospitalar de S. João, Porto, Portugal</aff><aff id="A6"><label>6</label>Manchester Children’s Hospital, Centre for Genomic Medicine, St Mary’s Hospital, CMFT, University of Manchester, Manchester, UK</aff><aff id="A7"><label>7</label>BioMarin Pharmaceutical Inc., Novato, CA, USA</aff><aff id="A8"><label>8</label>Children’s Hospital & Research Center Oakland, Oakland, CA, USA</aff><author-notes><corresp id="cor1"><label>*</label><bold>CORRESPONDING AUTHOR: Roberto Giugliani, MD</bold>, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil, <email>rgiugliani@hcpa.ufrgs.br</email>, Phone: 55-51-3359-6341, Fax: 55-51-3359-8010</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>23</day><month>5</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>24</day><month>4</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>8</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>8</month><year>2015</year></pub-date><volume>164</volume><issue>8</issue><fpage>1953</fpage><lpage>1964</lpage><pmc-comment>elocation-id from pubmed: 10.1002/ajmg.a.36584</pmc-comment>
<abstract><p id="P1">Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N-acetlylgalactosamine-4-sulfatase activity. A cross-sectional Survey Study in individuals (n=121) affected with MPS VI was conducted between 2001–2002 to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of disease. We conducted a Resurvey Study (<ext-link ext-link-type="uri" xlink:href="http://ClinicalTrials.gov">ClinicalTrials.gov</ext-link>: NCT01387854) to obtain 10-year follow-up data, including medical histories and clinical assessments (n=59), and survival status over 12-years (n=117). Patients received a mean (SD) of 6.8 (2.2) years of galsulfase ERT between baseline (Survey Study) and follow-up. ERT patients increased in height by 20.4 cm in the 4–7 year-old baseline age group and by 16.8 cm in the 8–12 year-old baseline age group. ERT patients <13 years old demonstrated improvement in forced vital capacity (FVC) by 68% and forced expiratory volume in 1 second (FEV1) by 55%, and those ≥13 years old increased FVC by 12.8% and maintained FEV1. Patients with >200 µg/mg baseline uGAG levels increased FVC by 48% in the <13 year-old and by 15% in the ≥13 year-old baseline age group. ERT patients who completed the 6-minute walk test demonstrated a mean (SD) increase of 65.7 (100.6) m. Cardiac outcomes did not significantly improve or worsen. Observed mortality rate among naïve patients was 50% (7/14) and 16.5% (17/103) in the ERT group (unadjusted hazard ratio, 0.24; 95% CI, 0.10 to 0.59). Long-term galsulfase ERT was associated with improvements in pulmonary functions and endurance, stabilized cardiac function and increased survival.</p></abstract><kwd-group><kwd>(MeSH)</kwd><kwd>Mucopolysaccharidosis VI</kwd><kwd>Maroteaux-Lamy syndrome</kwd><kwd>N-Acetylgalactosamine-4-Sulfatase</kwd><kwd>Enzyme Replacement Therapy</kwd><kwd>Follow-Up Studies</kwd><kwd>Multicenter Study [Publication Type]</kwd><kwd>Survival Rate</kwd><kwd>Exercise Tolerance</kwd><kwd>Respiratory Function Tests</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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