Evaluation of disease severity in mucopolysaccharidoses

Journal of Pediatric Rehabilitation Medicine

Volumn 3, Issue 1, 2010, Pages 39-46

  Beck, Michael ^a   Muenzer, Joseph ^b   Scarpa, Maurizio ^c  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

Diagnosis; Glycosaminoglycan; Mucopolysaccharidoses; Severity of illness index; Treatment

Indexed keywords

GLYCOSAMINOGLYCAN; RECOMBINANT ENZYME;

ARM MOVEMENT; BONE DISEASE; CLINICAL EVALUATION; DISEASE ACTIVITY; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; ENDURANCE; ENZYME ACTIVITY; ENZYME REPLACEMENT; FUNCTION TEST; GENOTYPE PHENOTYPE CORRELATION; HAND FUNCTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HURLER SYNDROME; LEG MOVEMENT; MUCOPOLYSACCHARIDOSIS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE; PHYSICAL PERFORMANCE; PHYSIOTHERAPY; PRIORITY JOURNAL; PROGNOSIS; QUALITY OF LIFE; REVIEW; SCORING SYSTEM; SELF CARE; SOCIAL INTERACTION; TREATMENT RESPONSE;

EID: 77953447715     PISSN: 18745393     EISSN: 18758894     Source Type: Journal    
DOI: 10.3233/PRM-2010-0100     Document Type: Review

References (35)

1. D. Auclair, L.K. Hein, J.J. Hopwood and S. Byers, Intraarticular enzyme administration for joint disease in feline mucopolysaccharidosis VI: enzyme dose and interval, Pediatr Res 59 (2006), 538-543.
2. D. Auclair, J.J. Hopwood, J.F. Lemontt, L. Chen and S. Byers, Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4- sulfatase in feline mucopolysaccharidosis VI, Mol Genet Metab 91 (2007), 352-361.
3. F. Baehner, C. Schmiedeskamp, F. Krummenauer, E. Miebach, M. Bajbouj, C. Whybra, A. Kohlschutter, C. Kampmann and M. Beck, Cumulative incidence rates of the mucopolysaccharidoses in Germany, J Inherit Metab Dis 28 (2005), 1011-1017.
4. M. Beck, New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy, Hum Genet 121 (2007), 1-22.
5. M. Beck and U.Widmer, Assessing multiorgan disease severity: scoring systems and applicability in LSDs, Acta Paediatr Suppl 95 (2006), 41-42.
6. A. Crawley, S.L. Ramsay, S. Byers, J. Hopwood and P.J. Meikle, Monitoring dose response of enzyme replacement therapy in feline mucopolysaccharidosis type VI by tandem mass spectrometry, Pediatr Res 55 (2004), 585-591.
7. L.H. Daltroy, M.H. Liang, A.H. Fossel and M.J. Goldberg, The POSNA pediatric musculoskeletal functional health questionnaire: report on reliability, validity, and sensitivity to change. Pediatric Outcomes Instrument Development Group. Pediatric Orthopaedic Society of North America, J Pediatr Orthop 18 (1998), 561-571.
8. P. Dickson, M. McEntee, C. Vogler, S. Le, B. Levy, M. Peinovich, S. Hanson, M. Passage and E. Kakkis, Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid, Mol Genet Metab 91 (2007), 61-68.
9. H.M. Dumas, M.A. Fragala, S.M. Haley, A.M. Skrinar, J.E. Wraith and G.F. Cox, Physical performance testing in mucopolysaccharidosis I: a pilot study, Pediatr Rehabil 7 (2004), 125-131.
10. R.P. El Dib and G.M. Pastores, Laronidase for treating mucopolysaccharidosis type I, Genet Mol Res 6 (2007), 667-674.
11. R.H.H. Engelbert, J.W.H. Custers, J. van der Net, Y. van der Graaf, F.A. Beemer and P.J.M. Helders, Functional outcome in osteogenesis imperfecta: disability profiles using the PEDI, Pediatr Phys Ther 9 (1997), 18-22.
12. R. Froissart, I. Moreira da Silva, N. Guffon, D. Bozon and I. Maire, Mucopolysaccharidosis type II-genotype/phenotype aspects, Acta Paediatr Suppl 91 (2002), 82-87.
13. M. Fuller, T. Rozaklis, S.L. Ramsay, J.J. Hopwood and P.J. Meikle, Disease-specific markers for the mucopolysaccharidoses, Pediatr Res 56 (2004), 733-738.
14. R. Giugliani, P. Harmatz and J.E. Wraith, Management guidelines for mucopolysaccharidosis VI, Pediatrics 120 (2007), 405-418.
15. F.S. Haddad, D.H.A. Jones, A. Vellodi, N. Kane and M.C. Pitt, Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses, J Bone Joint Surg Br 79 (1997), 576-582.
16. W. Krivit, Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases, Springer Semin Immunopathol 26 (2004), 119-132. (Pubitemid 40021961)
17. T. Litjens, D.A. Brooks, C. Peters, G.J. Gibson and J.J. Hopwood, Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients, Am J Hum Genet 58 (1996), 1127-1134.
18. K. L̈owing, E. Åstr̈om, K.A. Oscarsson, S. S̈oderḧall and A.C. Eliasson, Effect of intravenous pamidronate therapy on everyday activities in children with osteogenesis imperfecta, Acta Paediatr 96 (2007), 1180-1183.
19. M. Maas, C. van Kuijk, J. Stoker, C.E.M. Hollak, E.M. Akkerman, J.F.M.G. Aerts and G.J. den Heeten, Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging-initial experience, Radiology 229 (2003), 554-561.
20. J.J. Malatack, D.M. Consolini and E. Bayever, The status of hematopoietic stem cell transplantation in lysosomal storage disease, Pediatr Neurol 29 (2003), 391-403.
21. G. Malm, A.M. Lund, J.E. Månsson and A. Heiberg, Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence, Acta Paediatr 97 (2008), 1577-1581.
22. R. Martin, M. Beck, C. Eng, R. Giugliani, P. Harmatz, V. Mũnoz and J. Muenzer, Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome), Pediatrics 121 (2008), e377-e386.
23. M.V. Munoz-Rojas, T. Vieira, R. Costa, S. Canani, A. John, L.B. Jardim, L.M. Vedolin, M. Raymundo, P.I. Dickson, E. Kakkis and R. Giugliani, Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression, Am J Med Genet A 146A (2008), 2538-2544.
24. E.F. Neufeld and J. Muenzer, The mucopolysaccharidoses, in: The Metabolic and Molecular Bases of Inherited Disease, C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle, eds, McGraw- Hill Medical Publishing Division, New York, 2001, pp. 3421- 3452.
25. K.P. Ponder and M.E. Haskins, Gene therapy for mucopolysaccharidosis, Expert Opin Biol Ther 7 (2007), 1333-1345.
26. D.R. Randall, K.E. Colobong, H. Hemmelgarn, G.B. Sinclair, E. Hetty, A. Thomas, O.A. Bodamer, B. Volkmar, P.M. Fernhoff, R. Casey, A.K. Chan, G. Mitchell, S. Stockler, S. Melancon and T. Rupar, Heparin cofactor II-thrombin complex: a biomarker of MPS disease, Mol Genet Metab 94 (2008), 456-461.
27. D.R. Randall, G.B. Sinclair, K.E. Colobong, E. Hetty and L.A. Clarke, Heparin cofactor II-thrombin complex in MPS I: a biomarker of MPS disease, Mol Genet Metab 88 (2006), 235-243.
28. I.V.D. Schwartz, M.G. Ribeiro, J.G. Mota, M.B.P. Toralles, P. Correia, D. Horovitz, E.S. Santos, I.L. Monlleo, A.C. Fett- Conte, R.P.O. Sobrinho, D.Y.J. Norato, A.C. Paula, C.A. Kim, A.R. Duarte and R. Boy, A clinical study of 77 patients with mucopolysaccharidosis type II, Acta Paediatr Suppl 96 (2007), 63-70.
29. S.J. Swiedler, M. Beck, M. Bajbouj, R. Giugliani, I. Schwartz, P. Harmatz, J.E. Wraith, J. Roberts, D. Ketteridge, J.J. Hopwood, N. Guffon, M.C. Sa Miranda, E.L. Teles, K.I. Berger and C. Piscia-Nichols, Threshold effect of urinary gly cosaminoglycans 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 134 (2005), 144-150.
30. N.J. Terlato and G.F. Cox, Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature, Genet Med 5 (2003), 286-294.
31. J.E. Wraith, The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I, Expert Opin Pharmacother 6 (2005), 489-506.
32. J.E. Wraith, M. Beck, R. Giugliani, J. Clarke, R. Martin and J. Muenzer, Initial report from the Hunter Outcome Survey, Genet Med 10 (2008), 508-516.
33. J.E. Wraith, M. Scarpa, M. Beck, O.A. Bodamer, M.L. De, N. Guffon, L.A. Meldgaard, G. Malm, A.T. Van der Ploeg and J. Zeman, Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy, Eur J Pediatr 167 (2008), 267-277.
34. R.F. Wynn, J. Mercer, J. Page, T.F. Carr, S. Jones and J.E. Wraith, Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients, J Pediatr 154 (2009), 135-139.
35. N.M. Yanjanin, J.I. V́elez, A. Gropman, K. King, S.E. Bianconi, S.K. Conley, C.C. Brewer, B. Solomon, W.J. Pavan, M. Arcos-Burgos, M.C. Patterson and F.D. Porter, Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C, Am J Med Genet B Neuropsychiatr Genet (2009) (doi: 10.1002/ajmg.b.30969).