Up to five years experience with 11 mucopolysaccharidosis type VI patients
Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is a rare progressive metabolic disorder characterized by coarse facial features, hepatosplenomegaly, restrictive pulmonary function, cardiac abnormalities and stiff joints. The disease is caused by a deficiency of the lysosomal enzyme...
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| Veröffentlicht in: | Molecular genetics and metabolism 2013-05, Vol.109 (1), p.70-76 |
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| creator | Brands, Marion M.M.G. Oussoren, Esmee Ruijter, George J.G. Vollebregt, Audrey A.M. van den Hout, Hannerieke M.P. Joosten, Koen F.M. Hop, Wim C.J. Plug, Iris van der Ploeg, Ans T. |
| description | Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is a rare progressive metabolic disorder characterized by coarse facial features, hepatosplenomegaly, restrictive pulmonary function, cardiac abnormalities and stiff joints. The disease is caused by a deficiency of the lysosomal enzyme N-acetyl galactosamine 4-sulfatase which leads to glycosaminoglycan (GAG) storage in various tissues. It presents as a clinical spectrum with varying disease progressions and severities. While the phases I/II/III studies proved the effectiveness of enzyme-replacement therapy (ERT) with recombinant human arylsulfatase B, long-term data are still scarce.
Over treatment periods ranging from 1.3 to 5.4years, this prospective open-label follow-up study in 11 Dutch mucopolysaccharidosis type VI patients (age 2–18years) showed that ERT had significant positive effects on cardiac-wall diameters (IVSd and LVMI), left and right shoulder flexions (p |
| doi_str_mv | 10.1016/j.ymgme.2013.02.013 |
| format | Article |
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Over treatment periods ranging from 1.3 to 5.4years, this prospective open-label follow-up study in 11 Dutch mucopolysaccharidosis type VI patients (age 2–18years) showed that ERT had significant positive effects on cardiac-wall diameters (IVSd and LVMI), left and right shoulder flexions (p<0.001), liver size and spleen size (p<0.001), urinary GAG excretion (p<0.001), and the scales of quality of life (motor functioning and body functioning). ERT did not affect cardiac valve regurgitation or hearing function; HRQoL decreased slightly in two domains (‘anxiety’ and ‘negative emotions’), and patients with the rapid and slow progressive forms of the disease differed with regard to baseline GAG excretion and GAG decrease during treatment.
In conclusion, ERT had an effect on several clinical parameters. This effect was established in an open cohort of young mucopolysaccharidosis type VI patients.
•We studied 11 MPS VI patients receiving ERT for a period of 1.3 to 5.4years.•ERT had positive effects on several parameters (e.g. shoulder flexion and GAG values).•ERT did not affect cardiac valve regurgitation or hearing function.•HRQoL increased in all domains, except two (‘anxiety’ and ‘negative emotions’).•Patients with a rapid form of disease had higher urinary GAG values at start of ERT.</description><identifier>ISSN: 1096-7192</identifier><identifier>EISSN: 1096-7206</identifier><identifier>DOI: 10.1016/j.ymgme.2013.02.013</identifier><identifier>PMID: 23523338</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Child ; Child, Preschool ; Enzyme Replacement Therapy ; Female ; Follow-Up Studies ; Glycosaminoglycans - metabolism ; Humans ; Lysosomal storage disorders ; Male ; Maroteaux–Lamy syndrome ; Mucopolysaccharidosis type VI ; Mucopolysaccharidosis VI - enzymology ; Mucopolysaccharidosis VI - genetics ; Mucopolysaccharidosis VI - physiopathology ; Mucopolysaccharidosis VI - therapy ; N-Acetylgalactosamine-4-Sulfatase - genetics ; N-Acetylgalactosamine-4-Sulfatase - metabolism ; N-Acetylgalactosamine-4-Sulfatase - therapeutic use ; Prospective Studies ; Respiratory Function Tests ; Young Adult</subject><ispartof>Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.70-76</ispartof><rights>2013 Elsevier Inc.</rights><rights>Copyright © 2013 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c392t-b6e3135a59f8892dc58b671b51634bebcd2635f0d71f7a82e01b03cc633072c13</citedby><cites>FETCH-LOGICAL-c392t-b6e3135a59f8892dc58b671b51634bebcd2635f0d71f7a82e01b03cc633072c13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1096719213000711$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23523338$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Brands, Marion M.M.G.</creatorcontrib><creatorcontrib>Oussoren, Esmee</creatorcontrib><creatorcontrib>Ruijter, George J.G.</creatorcontrib><creatorcontrib>Vollebregt, Audrey A.M.</creatorcontrib><creatorcontrib>van den Hout, Hannerieke M.P.</creatorcontrib><creatorcontrib>Joosten, Koen F.M.</creatorcontrib><creatorcontrib>Hop, Wim C.J.</creatorcontrib><creatorcontrib>Plug, Iris</creatorcontrib><creatorcontrib>van der Ploeg, Ans T.</creatorcontrib><title>Up to five years experience with 11 mucopolysaccharidosis type VI patients</title><title>Molecular genetics and metabolism</title><addtitle>Mol Genet Metab</addtitle><description>Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is a rare progressive metabolic disorder characterized by coarse facial features, hepatosplenomegaly, restrictive pulmonary function, cardiac abnormalities and stiff joints. The disease is caused by a deficiency of the lysosomal enzyme N-acetyl galactosamine 4-sulfatase which leads to glycosaminoglycan (GAG) storage in various tissues. It presents as a clinical spectrum with varying disease progressions and severities. While the phases I/II/III studies proved the effectiveness of enzyme-replacement therapy (ERT) with recombinant human arylsulfatase B, long-term data are still scarce.
Over treatment periods ranging from 1.3 to 5.4years, this prospective open-label follow-up study in 11 Dutch mucopolysaccharidosis type VI patients (age 2–18years) showed that ERT had significant positive effects on cardiac-wall diameters (IVSd and LVMI), left and right shoulder flexions (p<0.001), liver size and spleen size (p<0.001), urinary GAG excretion (p<0.001), and the scales of quality of life (motor functioning and body functioning). ERT did not affect cardiac valve regurgitation or hearing function; HRQoL decreased slightly in two domains (‘anxiety’ and ‘negative emotions’), and patients with the rapid and slow progressive forms of the disease differed with regard to baseline GAG excretion and GAG decrease during treatment.
In conclusion, ERT had an effect on several clinical parameters. This effect was established in an open cohort of young mucopolysaccharidosis type VI patients.
•We studied 11 MPS VI patients receiving ERT for a period of 1.3 to 5.4years.•ERT had positive effects on several parameters (e.g. shoulder flexion and GAG values).•ERT did not affect cardiac valve regurgitation or hearing function.•HRQoL increased in all domains, except two (‘anxiety’ and ‘negative emotions’).•Patients with a rapid form of disease had higher urinary GAG values at start of ERT.</description><subject>Adolescent</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Enzyme Replacement Therapy</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Glycosaminoglycans - metabolism</subject><subject>Humans</subject><subject>Lysosomal storage disorders</subject><subject>Male</subject><subject>Maroteaux–Lamy syndrome</subject><subject>Mucopolysaccharidosis type VI</subject><subject>Mucopolysaccharidosis VI - enzymology</subject><subject>Mucopolysaccharidosis VI - genetics</subject><subject>Mucopolysaccharidosis VI - physiopathology</subject><subject>Mucopolysaccharidosis VI - therapy</subject><subject>N-Acetylgalactosamine-4-Sulfatase - genetics</subject><subject>N-Acetylgalactosamine-4-Sulfatase - metabolism</subject><subject>N-Acetylgalactosamine-4-Sulfatase - therapeutic use</subject><subject>Prospective Studies</subject><subject>Respiratory Function Tests</subject><subject>Young Adult</subject><issn>1096-7192</issn><issn>1096-7206</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkDtPwzAUhS0EouXxC5CQR5YEX7txkoEBVTyKKrFQVstxbqirpAl2Wsi_J30xIqZzh--cK32EXAELgYG8XYRd9VFhyBmIkPGwjyMyBJbKIOZMHh9uSPmAnHm_YAwgSkenZMBFxIUQyZC8zBra1rSwa6QdaucpfjfoLC4N0i_bzikArVambuqy89qYuXY2r731tO0apO8T2ui2x1t_QU4KXXq83Oc5mT0-vI2fg-nr02R8Pw2MSHkbZBIFiEhHaZEkKc9NlGQyhiwCKUYZZibnUkQFy2MoYp1wZJAxYYwUgsXcgDgnN7vdxtWfK_Stqqw3WJZ6ifXKq36c85TJUfQPlMcxjwWkPSp2qHG19w4L1ThbadcpYGrjWy3U1rfa-FaMqz761vX-wSqrMP_tHAT3wN0OwN7I2qJT3mzl5tahaVVe2z8f_AB8RpDa</recordid><startdate>201305</startdate><enddate>201305</enddate><creator>Brands, Marion M.M.G.</creator><creator>Oussoren, Esmee</creator><creator>Ruijter, George J.G.</creator><creator>Vollebregt, Audrey A.M.</creator><creator>van den Hout, Hannerieke M.P.</creator><creator>Joosten, Koen F.M.</creator><creator>Hop, Wim C.J.</creator><creator>Plug, Iris</creator><creator>van der Ploeg, Ans T.</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201305</creationdate><title>Up to five years experience with 11 mucopolysaccharidosis type VI patients</title><author>Brands, Marion M.M.G. ; Oussoren, Esmee ; Ruijter, George J.G. ; Vollebregt, Audrey A.M. ; van den Hout, Hannerieke M.P. ; Joosten, Koen F.M. ; Hop, Wim C.J. ; Plug, Iris ; van der Ploeg, Ans T.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c392t-b6e3135a59f8892dc58b671b51634bebcd2635f0d71f7a82e01b03cc633072c13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Enzyme Replacement Therapy</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Glycosaminoglycans - metabolism</topic><topic>Humans</topic><topic>Lysosomal storage disorders</topic><topic>Male</topic><topic>Maroteaux–Lamy syndrome</topic><topic>Mucopolysaccharidosis type VI</topic><topic>Mucopolysaccharidosis VI - enzymology</topic><topic>Mucopolysaccharidosis VI - genetics</topic><topic>Mucopolysaccharidosis VI - physiopathology</topic><topic>Mucopolysaccharidosis VI - therapy</topic><topic>N-Acetylgalactosamine-4-Sulfatase - genetics</topic><topic>N-Acetylgalactosamine-4-Sulfatase - metabolism</topic><topic>N-Acetylgalactosamine-4-Sulfatase - therapeutic use</topic><topic>Prospective Studies</topic><topic>Respiratory Function Tests</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brands, Marion M.M.G.</creatorcontrib><creatorcontrib>Oussoren, Esmee</creatorcontrib><creatorcontrib>Ruijter, George J.G.</creatorcontrib><creatorcontrib>Vollebregt, Audrey A.M.</creatorcontrib><creatorcontrib>van den Hout, Hannerieke M.P.</creatorcontrib><creatorcontrib>Joosten, Koen F.M.</creatorcontrib><creatorcontrib>Hop, Wim C.J.</creatorcontrib><creatorcontrib>Plug, Iris</creatorcontrib><creatorcontrib>van der Ploeg, Ans T.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Molecular genetics and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brands, Marion M.M.G.</au><au>Oussoren, Esmee</au><au>Ruijter, George J.G.</au><au>Vollebregt, Audrey A.M.</au><au>van den Hout, Hannerieke M.P.</au><au>Joosten, Koen F.M.</au><au>Hop, Wim C.J.</au><au>Plug, Iris</au><au>van der Ploeg, Ans T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Up to five years experience with 11 mucopolysaccharidosis type VI patients</atitle><jtitle>Molecular genetics and metabolism</jtitle><addtitle>Mol Genet Metab</addtitle><date>2013-05</date><risdate>2013</risdate><volume>109</volume><issue>1</issue><spage>70</spage><epage>76</epage><pages>70-76</pages><issn>1096-7192</issn><eissn>1096-7206</eissn><abstract>Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is a rare progressive metabolic disorder characterized by coarse facial features, hepatosplenomegaly, restrictive pulmonary function, cardiac abnormalities and stiff joints. The disease is caused by a deficiency of the lysosomal enzyme N-acetyl galactosamine 4-sulfatase which leads to glycosaminoglycan (GAG) storage in various tissues. It presents as a clinical spectrum with varying disease progressions and severities. While the phases I/II/III studies proved the effectiveness of enzyme-replacement therapy (ERT) with recombinant human arylsulfatase B, long-term data are still scarce.
Over treatment periods ranging from 1.3 to 5.4years, this prospective open-label follow-up study in 11 Dutch mucopolysaccharidosis type VI patients (age 2–18years) showed that ERT had significant positive effects on cardiac-wall diameters (IVSd and LVMI), left and right shoulder flexions (p<0.001), liver size and spleen size (p<0.001), urinary GAG excretion (p<0.001), and the scales of quality of life (motor functioning and body functioning). ERT did not affect cardiac valve regurgitation or hearing function; HRQoL decreased slightly in two domains (‘anxiety’ and ‘negative emotions’), and patients with the rapid and slow progressive forms of the disease differed with regard to baseline GAG excretion and GAG decrease during treatment.
In conclusion, ERT had an effect on several clinical parameters. This effect was established in an open cohort of young mucopolysaccharidosis type VI patients.
•We studied 11 MPS VI patients receiving ERT for a period of 1.3 to 5.4years.•ERT had positive effects on several parameters (e.g. shoulder flexion and GAG values).•ERT did not affect cardiac valve regurgitation or hearing function.•HRQoL increased in all domains, except two (‘anxiety’ and ‘negative emotions’).•Patients with a rapid form of disease had higher urinary GAG values at start of ERT.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>23523338</pmid><doi>10.1016/j.ymgme.2013.02.013</doi><tpages>7</tpages></addata></record> |
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| subjects | Adolescent Child Child, Preschool Enzyme Replacement Therapy Female Follow-Up Studies Glycosaminoglycans - metabolism Humans Lysosomal storage disorders Male Maroteaux–Lamy syndrome Mucopolysaccharidosis type VI Mucopolysaccharidosis VI - enzymology Mucopolysaccharidosis VI - genetics Mucopolysaccharidosis VI - physiopathology Mucopolysaccharidosis VI - therapy N-Acetylgalactosamine-4-Sulfatase - genetics N-Acetylgalactosamine-4-Sulfatase - metabolism N-Acetylgalactosamine-4-Sulfatase - therapeutic use Prospective Studies Respiratory Function Tests Young Adult |
| title | Up to five years experience with 11 mucopolysaccharidosis type VI patients |
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