Enzyme replacement therapy for mucopolysaccharidosis type I among patients followed within the MPS Brazil network

Genetics and Molecular Biology

Volumn 37, Issue 1, 2014, Pages 23-29

  Dornelles, Alícia Dorneles ^a   De Camargo Pinto, Louise Lapagesse ^b   De Paula, Ana Carolina ^m   Steiner, Carlos Eduardo ^d   Lourenço, Charles Marques ^c   Ae Kim, Chong ^c   Horovitz, Dafne Dain Gandelman ^e   Ribeiro, Erlane Marques ^f   Valadares, Eugênia Ribeiro ^g   Goulart, Isabela ^h   De Souza, Isabel C Neves ⁱ   Da Costa Neri, Jóo Ivanildo ^j   Santana da Silva, Luiz Carlos ⁱ   Silva, Luiz Roberto ^h   Ribeiro, Márcia ^k   De Oliveira Sobrinho, Ruy Pires ^d   Giugliani, Roberto ^a,l   Schwartz, Ida Vanessa Doederlein ^a,l  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b HOSPITAL INFANTIL JOANA DE GUSMÃO   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d UNIVERSITY OF CAMPINAS   (Brazil)

^e INSTITUTO OSWALDO CRUZ   (Brazil)

^f Hospital Infantil Albert Sabin   (Brazil)

^g FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^h FEDERAL UNIVERSITY OF UBERLÂNDIA   (Brazil)

ⁱ FEDERAL UNIVERSITY OF PARÁ   (Brazil)

^j Outpatient Genetics Clinic Prefeitura de Parnamirim   (Brazil)

^k FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^l FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^m Hospital Municipal da Criança e Do Adolescente   (Brazil)

more..

Author keywords

Alpha L iduronidase; Enzyme replacement therapy; Laronidase; Mucopolysaccharidosis type I

Indexed keywords

LEVO IDURONIDASE;

ARTICLE; BRAZIL; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DEFORMITY; ENZYME REPLACEMENT; FEMALE; GIBBUS DEFORMITY; HEARING IMPAIRMENT; HEPATOSPLENOMEGALY; HOSPITALIZATION; HUMAN; HURLER SYNDROME; MALE; MORBIDITY; MORTALITY; MULTICENTER STUDY; RESPIRATORY TRACT INFECTION; SLEEP DISORDERED BREATHING; TREATMENT OUTCOME;

EID: 84897138961     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572014000100006     Document Type: Article

References (28)

1. Ashworth JL, Biswas S, Wraith E and Lloyd IC (2006a) Mucopolysaccharidoses and the eye. Surv Ophthalmol 51:1-17.
2. Ashworth JL, Biswas S, Wraith E and Lloyd IC (2006b) The ocular features of the mucopolysaccharidoses. Eye (Lond) 20:553-563.
3. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschütter A, Kampmann C and Beck M (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011-1017.
4. Boy R, Schwartz IV, Krug BC, Santana-da-Silva LC, Steiner CE, Acosta AX, Ribeiro EM, Galera MF, Leivas PGC and Braz M (2011) Ethical issues related to the access to orphan drugs in Brazil: The case of mucopolysaccharidosis type I. J Med Ethics 37:233-239.
5. Caruso RC, Kaiser-Kupfer MI, Muenzer J, Ludwig IH, Zasloff MA and Mercer PA (1986) Electroretinographic findings in the mucopolysaccharidoses. Ophthalmology 93:1612-1616.
6. Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Sidman M, Kakkis ED, et al. (2009) Long-term efficacy and safety of Laronidase in the treatment of Mucopolysaccharidosis I. Pediatrics 123:229-240.
7. Fahnehjelm KT, Törnquist AL and Winiarski J (2012) Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS I-Hurler). Acta Ophthalmol 90:287-290.
8. Giugliani R, Federhen A, Muñoz Rojas MV, Vieira TA, Artigalás O, Pinto LLC, Azevedo AC, Acosta AX, Bomfim C, Lourenço CM, et al. (2010a) Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: Recommendations from a group of Brazilian F experts. Rev Assoc Med Bras 56:271-277.
9. Giugliani R, Federhen A, Rojas MV, Vieira T, Artigalás O, Pinto LL, Azevedo AC, Acosta A, Bomfim C, Lourenço CM, et al. (2010b) Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. Genet Mol Biol 33:589-604.
10. Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Phillips J, Doroshow R, Walot I, et al. (2001) Enzyme replacement therapy in mucopolysaccharidosis I. N Engl J Med 344:182-188.
11. Lowry RB, Applegarth DA, Toone JR, MacDonald E and Thunem NY (1990) An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet 85:389-390.
12. Meikle PJ, Hopwood JJ, Clague AE and Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249-254.
13. Moore D, Connock MJ, Wraith E and Lavery C (2008) The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis 3:24.
14. Muenzer J, Wraith JE, Clarke LA and International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I (2009) Mucopolysaccharidosis I: Management and treatment guidelines. Pediatrics 123:19-29.
15. Muñoz-Rojas MV, Bay L, Sanchez L, van Kuijck M, Ospina S, Cabello JF and Martins AM (2011) Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world. J Inherit Metab Dis 34:1029-1037.
16. Nelson J (1997) Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101:355-358.
17. Neufeld E and Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 3421-3452.
18. Pastores GM, Arn P, Beck M, Clarke JT, Guffon N, Kaplan P, Muenzer J, Norato DY, Shapiro E, Thomas J, et al. (2007) The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab 91:37-47.
19. Pastores GM and Meere PA (2005) Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Curr Opin in Rheumatol 17:70-78.
20. Pastores GM (2008) Musculoskeletal complications encountered in the lysosomal storage disorders. Best Pract Res Clin Rheumatol 22:937-947.
21. Pitz S, Ogun O, Bajbouj M, Arash L, Schulze-Frenking G and Beck M (2007) Ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy: A 4-year experience. Arch Ophthalmol 125:1353-1356.
22. Sifuentes M, Doroshow R, Hoft R, Mason G, Walot I, Diament M, Okazaki S, Huff K, Cox GF, Swiedler SJ, et al. (2007) A follow-up study of MPS I patients treated with Laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 90:171-180.
23. Turra GS and Schwartz IV (2009) Evaluation of orofacial motricity in patients with mucopolysaccharidosis: A cross-sectional study. J Pediatr (Rio J) 85:254-260.
24. Vieira T, Schwartz I, Muñoz V, Pinto L, Steiner C, Ribeiro M, Boy R, Ferraz V, de Paula A, Kim C, et al. (2008) Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis? Am J Med Genet A 146A:1741-1747.
25. Vijay S and Wraith JE (2005) Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Pædiatr 94:872-877.
26. Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, et al. (2004) Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alfa-l-iduronidase (Laronidase). J Pediatr 144:581-588.
27. Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ and Brooks DA (2005) Laronidase treatment of mucopolysaccharidosis I. BioDrugs 19:1-7.
28. Wraith JE, Beck M, Lane R, van der Ploeg A, Shapiro E, Xue Y, Kakkis ED and Guffon N (2007) Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: Results of a multinational study of recombinant human alfa-l-iduronidase (Laronidase). Paediatrics 120:e37-46.