Up to five years experience with 11 mucopolysaccharidosis type VI patients

Molecular Genetics and Metabolism

Volumn 109, Issue 1, 2013, Pages 70-76

  Brands, Marion M M G ^a   Oussoren, Esmee ^a   Ruijter, George J G ^a   Vollebregt, Audrey A M ^a   van den Hout, Hannerieke M P ^a   Joosten, Koen F M ^a   Hop, Wim C J ^b   Plug, Iris ^a   Van der Ploeg, Ans T ^a  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Enzyme replacement therapy; Lysosomal storage disorders; Maroteaux Lamy syndrome; Mucopolysaccharidosis type VI

Indexed keywords

ANTIBODY; GALSULFASE; GLYCOSAMINOGLYCAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EFFECTIVENESS; CLINICAL TRIAL; DUTCH ELM DISEASE; ENZYME REPLACEMENT; FEMALE; FLEXOR REFLEX; HEARING; HEART VALVE REGURGITATION; HUMAN; JOINT FUNCTION; LIVER SIZE; MALE; MAROTEAUX LAMY SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; QUALITY OF LIFE; SCHOOL CHILD; SHOULDER; SPLEEN SIZE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; ENZYME REPLACEMENT THERAPY; FEMALE; FOLLOW-UP STUDIES; GLYCOSAMINOGLYCANS; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS VI; N-ACETYLGALACTOSAMINE-4-SULFATASE; PROSPECTIVE STUDIES; RESPIRATORY FUNCTION TESTS; YOUNG ADULT;

EID: 84876093835     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.02.013     Document Type: Article

References (37)

1. Poorthuis B.J., Wevers R.A., Kleijer W.J., Groener J.E., de Jong J.G., van Weely S., Niezen-Koning K.E., van Diggelen O.P. The frequency of lysosomal storage diseases in The Netherlands. Hum. Genet. 1999, 105:151-156.
2. Valayannopoulos V., Nicely H., Harmatz P., Turbeville S. Mucopolysaccharidosis VI. Orphanet J. Rare Dis. 2010, 5:5-24.
3. Neufeld E.F., Muenzer J. The Mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease 2001, 3421-3452. McGraw-Hill Professional, New York. C.R. Scriver, A.L. Beaudet, D. Valle, W. Sly, B. Childs, K.W. Kinzler, B. Vogelstein (Eds.).
4. Giugliani R., Harmatz P., Wraith J.E. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007, 120:405-418.
5. Swiedler S.J., Beck M., Bajbouj M., Giugliani R., Schwartz I., Harmatz P., Wraith J.E., Roberts J., Ketteridge D., Hopwood J.J., Guffon N., Sa Miranda M.C., Teles E.L., Berger K.I., Piscia-Nichols C. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am. J. Med. Genet. A 2005, 134A:144-150.
6. Harmatz P., Yu Z.F., Giugliani R., Schwartz I.V., Guffon N., Teles E.L., Miranda M.C., Wraith J.E., Beck M., Arash L., Scarpa M., Ketteridge D., Hopwood J.J., Plecko B., Steiner R., Whitley C.B., Kaplan P., Swiedler S.J., Hardy K., Berger K.I., Decker C. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J. Inherit. Metab. Dis. 2010, 33:51-60.
7. Harmatz P., Giugliani R., Schwartz I.V., Guffon N., Teles E.L., Miranda M.C., Wraith J.E., Beck M., Arash L., Scarpa M., Ketteridge D., Hopwood J.J., Plecko B., Steiner R., Whitley C.B., Kaplan P., Yu Z.F., Swiedler S.J., Decker C. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol. Genet. Metab. 2008, 94:469-475. MPS VI Study Group.
8. Harmatz P., Giugliani R., Schwartz I., Guffon N., Teles E.L., Miranda M.C., Wraith J.E., Beck M., Arash L., Scarpa M., Yu Z.F., Wittes J., Berger K.I., Newman M.S., Lowe A.M., Kakkis E., Swiedler S.J. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J. Pediatr. 2006, 148:533-539. MPS VI Phase 3 Study Group.
9. Iber C., Ancoli-Israel S., Chesson A., Quan S. The AASM Manual for the Scoring of Sleep and Associated Events: Rules, Terminology and Technical Specifications 2007.
10. Kampmann C., Wiethoff C.M., Wenzel A., Stolz G., Betancor M., Wippermann C.F., Huth R.G., Habermehl P., Knuf M., Emschermann T., Stopfkuchen H. Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe. Heart 2000, 83:667-672.
11. Poutanen T., Jokinen E. Left ventricular mass in 169 healthy children and young adults assessed by three-dimensional echocardiography. Pediatr. Cardiol. 2007, 28:201-207.
12. A. Goodman, Reference zero levels for pure-tone audiometers. (1965) 262-263.
13. de Jong J.G., Wevers R.A., Liebrand-van Sambeek R. Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin. Chem. 1992, 38:803-807.
14. Vogels T., Verrips G.H., Verloove-Vanhorick S.P., Fekkes M., Kamphuis R.P., Koopman H.M., Theunissen N.C., Wit J.M. Measuring health-related quality of life in children: the development of the TACQOL parent form. Qual. Life Res. 1998, 7:457-465.
15. Fekkes M., Theunissen N.C., Brugman E., Veen S., Verrips E.G., Koopman H.M., Vogels T., Wit J.M., Verloove-Vanhorick S.P. Development and psychometric evaluation of the TAPQOL: a health-related quality of life instrument for 1-5-year-old children. Qual. Life Res. 2000, 9:961-972.
16. Brands M.M., Frohn-Mulder I.M., Hagemans M.L., Hop W.C., Oussoren E., Helbing W.A., van der Ploeg A.T. Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI. J. Inherit. Metab. Dis. 2013, 36:227-234.
17. Harmatz P., Ketteridge D., Giugliani R., Guffon N., Teles E.L., Miranda M.C., Yu Z.F., Swiedler S.J., Hopwood J.J. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005, 115:e681-e689. MPS VI Study Group.
18. Harmatz P., Kramer W.G., Hopwood J.J., Simon J., Butensky E., Swiedler S.J. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr. Suppl. 2005, 94:61-68. Mucopolysaccharidosis VI Study Group, (discussion 57).
19. Lin H.Y., Chen M.R., Chuang C.K., Chen C.P., Lin D.S., Chien Y.H., Ke Y.Y., Tsai F.J., Pan H.P., Lin S.J., Hwu W.L., Niu D.M., Lee N.C., Lin S.P. Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan. J. Inherit. Metab. Dis. 2013, 36:373-384.
20. Harmatz P., Whitley C.B., Waber L., Pais R., Steiner R., Plecko B., Kaplan P., Simon J., Butensky E., Hopwood J.J. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J. Pediatr. 2004, 144:574-580.
21. Hendriksz C.J., Giugliani R., Harmatz P., Lampe C., Martins A.M., Pastores G.M., Steiner R.D., Leao Teles E., Valayannopoulos V. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J. Inherit. Metab. Dis. 2011, for the CSP Study Group.
22. Kakkis E.D., Muenzer J., Tiller G.E., Waber L., Belmont J., Passage M., Izykowski B., Phillips J., Doroshow R., Walot I., Hoft R., Neufeld E.F. Enzyme-replacement therapy in mucopolysaccharidosis I. N. Engl. J. Med. 2001, 182-188.
23. Bembi B., Zanatta M., Carrozzi M., Baralle F., Gornati R., Berra B., Agosti E. Enzyme replacement treatment in type 1 and type 3 Gaucher's disease. Lancet 1994, 344:1679-1682.
24. Scarpa M., Barone R., Fiumara A., Astarita L., Parenti G., Rampazzo A., Sala S., Sorge G., Parini R. Mucopolysaccharidosis VI: the Italian experience. Eur. J. Pediatr. 2009, 168:1203-1206.
25. Oussoren E., Brands M.M., Ruijter G.J., der Ploeg A.T., Reuser A.J. Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options. Biochim. Biophys. Acta 2011, 1812:1542-1556.
26. White K.K. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford) 2011, 50(Suppl. 5):v26-v33.
27. John A., Fagondes S., Schwartz I., Azevedo A.C., Barrios P., Dalcin P., Menna-Barreto S., Giugliani R. Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI. Am. J. Med. Genet. A 2011, 155A:1546-1551.
28. Leighton S.E., Papsin B., Vellodi A., Dinwiddie R., Lane R. Disordered breathing during sleep in patients with mucopolysaccharidoses. Int. J. Pediatr. Otorhinolaryngol. 2001, 58:127-138.
29. Lin H.Y., Chen M.R., Lin C.C., Chen C.P., Lin D.S., Chuang C.K., Niu D.M., Chang J.H., Lee H.C., Lin S.P. Polysomnographic characteristics in patients with mucopolysaccharidoses. Pediatr. Pulmonol. 2010, 45:1205-1212.
30. Braunlin E., Rosenfeld H., Kampmann C., Johnson J., Beck M., Giugliani R., Guffon N., Ketteridge D., Sa Miranda C.M., Scarpa M., Schwartz I.V., Leao Teles E., Wraith J.E., Barrios P., Dias da Silva E., Kurio G., Richardson M., Gildengorin G., Hopwood J.J., Imperiale M., Schatz A., Decker C., Harmatz P. Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme((R))) therapy. J. Inherit. Metab. Dis. 2012, MPS VI Study Group.
31. Misfeld M., Sievers H.H. Heart valve macro- and microstructure. Philos.Trans. R. Soc. Lond. B: Biol. Sci. 2007, 362:1421-1436.
32. Hoffmann B., Schulze-Frenking G., Al-Sawaf S., Beck M., Mayatepek E. Hunter disease before and during enzyme replacement therapy. Pediatr. Neurol. 2011, 45:181-184.
33. Simmons M.A., Bruce I.A., Penney S., Wraith E., Rothera M.P. Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int. J. Pediatr. Otorhinolaryngol. 2005, 69:589-595.
34. Hong S.H., Chu H., Kim K.R., Ko M.H., Kwon S.Y., Moon I.J., Chung W.H., Cho Y.S., Kim C.H., Suh M.W., Choi E.W., Sohn Y.B., Park S.W., Kim S.H., Cho S.Y., Ko A.R., Jin D.K. Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II. Am. J. Med. Genet. A 2012, 158A:2131-2138.
35. Ohlemiller K.K., Hennig A.K., Lett J.M., Heidbreder A.F., Sands M.S. Inner ear pathology in the mucopolysaccharidosis VII mouse. Hear Res. 2002, 169:69-84.
36. Hatzmann J., Valstar M.J., Bosch A.M., Wijburg F.A., Heymans H.S., Grootenhuis M.A. Predicting health-related quality of life of parents of children with inherited metabolic diseases. Acta Paediatr. 2009, 98:1205-1210.
37. Clarke L.A., Wraith J.E., Beck M., Kolodny E.H., Pastores G.M., Muenzer J., Rapoport D.M., Berger K.I., Sidman M., Kakkis E.D., Cox G.F. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009, 123:229-240.