The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 29, Issue 2, 2015, Pages 205-218

  Hollak, Carla E M ^a,c   Weinreb, Neal J ^b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b University Research Foundation for Lysosomal Storage Diseases   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

attenuated phenotypes; enzyme replacement therapy; Fabry disease; late onset; MeSH Keywords Gaucher disease; therapeutic goals

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; ELIGLUSTAT; GLUCOSYLCERAMIDASE; IMIGLUCERASE; MIGALASTAT; MIGLUSTAT; TALIGLUCERASE ALFA; VELAGLUCERASE ALFA;

CLINICAL FEATURE; DISEASE COURSE; ENZYME REPLACEMENT; FABRY DISEASE; FOLLOW UP; GAUCHER DISEASE; HUMAN; HURLER SYNDROME; LYSOSOME STORAGE DISEASE; PATIENT CARE; PHENOTYPE; REVIEW; SYMPTOM; TREATMENT INDICATION; LATE ONSET DISORDER; PATIENT CARE PLANNING; PROCEDURES;

ENZYME REPLACEMENT THERAPY; FABRY DISEASE; GAUCHER DISEASE; HUMANS; LATE ONSET DISORDERS; PATIENT CARE PLANNING;

EID: 84929519531     PISSN: 1521690X     EISSN: 15321908     Source Type: Journal    
DOI: 10.1016/j.beem.2014.08.006     Document Type: Review

References (74)

1. E.F. Neufeld Lysosomal storage diseases Annu Rev Biochem 60 1991 257 280
2. G. Grabowski, KE, and N.J. Weinreb Gaucher disease: phenotypic and genetic variation The online metabolic and molecular basis of inherited metabolic disease 2006 Chapter 146.1
3. N.W. Barton, R.O. Brady, and J.M. Dambrosia Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease N Engl J Med 324 1991 1464 1470
4. C.E. Hollak, and F.A. Wijburg Treatment of lysosomal storage disorders: successes and challenges J Inherit Metab Dis 37 4 2014 Jul 587 598
5. B. Rosenbloom, M. Balwani, and J.M. Bronstein The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry Blood Cells Mol Dis 46 2011 95 102
6. M. Biegstraaten, E. Mengel, and L. Marodi Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study Brain 133 2010 2909 2919
7. P.J. Meikle, J.J. Hopwood, and A.E. Clague Prevalence of lysosomal storage disorders JAMA 281 1999 249 254
8. G.A. Grabowski Gaucher disease: gene frequencies and genotype/phenotype correlations Genet Test 1 1997 5 12
9. P. Giraldo, P. Alfonso, and P. Irun Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula Orphanet J Rare Dis 7 2012 17
10. J. Stirnemann, M. Vigan, and D. Hamroun The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients Orphanet J Rare Dis 7 2012 77
11. G. Drelichman, A. Linares, and J. Villalobos Gaucher disease in Latin America. A report from the gaucher disease international registry and the Latin American group for gaucher disease Medicina (B Aires) 72 2012 273 282
12. R.H. Lachmann, I.R. Grant, and D. Halsall Twin pairs showing discordance of phenotype in adult Gaucher's disease QJM 97 2004 199 204
13. M. Balwani, L. Fuerstman, and R. Kornreich Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes Arch Intern Med 170 2010 1463 1469
14. P.B. Deegan, E. Pavlova, and J. Tindall Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy Medicine (Baltimore) 90 2011 52 60
15. R.H. Lachmann, D.G. Wight, and D.J. Lomas Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features QJM 93 2000 237 244
16. P. Mikosch, and D. Hughes An overview on bone manifestations in Gaucher disease Wien Med Wochenschr 160 2010 609 624
17. R. Kauli, R. Zaizov, and L. Lazar Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy Isr Med Assoc J 2 2000 158 163
18. S.M. Lo, J. Liu, and F. Chen Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy J Inherit Metab Dis 34 2011 643 650
19. F.Y. Choy, and T.N. Campbell Gaucher disease and cancer: concept and controversy Int J Cell Biol 2011 2011 150450
20. M. Orenstein, D. Barbouth, and O.A. Bodamer Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes Orphanet J Rare Dis 9 2014 45
21. J.M. Boomsma, L. van Dussen, and M.G. Wiersma Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study Blood Cells Mol Dis 44 2010 181 187
22. N.J. Weinreb Imiglucerase and its use for the treatment of Gaucher's disease Expert Opin Pharmacother 9 2008 1987 2000
23. B.E. Rosenbloom, and N.J. Weinreb Gaucher disease: a comprehensive review Crit Rev Oncog 18 2013 163 175
24. T.M. Cox, J.M. Aerts, and N. Belmatoug Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring J Inherit Metab Dis 31 2008 319 336
25. N.J. Weinreb Oral small molecule therapy for lysosomal storage diseases Pediatr Endocrinol Rev 11 Suppl. 1 2013 77 90
26. E. Lukina, N. Watman, and M. Dragosky Eliglustat, an investigational oral therapy for Gaucher disease type 1: phase 2 trial results after 4years of treatment Blood Cells Mol Dis 2014
27. L. van Dussen, E.J. Hendriks, and J.E. Groener Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy J Inherit Metab Dis 2014
28. E.V. Pavlova, P.B. Deegan, and J. Tindall Potential biomarkers of osteonecrosis in Gaucher disease Blood Cells Mol Dis 46 2011 27 33
29. G.M. Pastores, N.J. Weinreb, and H. Aerts Therapeutic goals in the treatment of Gaucher disease Semin Hematol 41 2004 4 14
30. C.E. Hollak, N. Belmatoug, and J.A. Cole Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years Br J Haematol 158 2012 528 538
31. Desnick RJ, Ioannou YA, Eng CM, et al. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p. 20013733-3774.
32. J.M. Aerts, J.E. Groener, and S. Kuiper Elevated globotriaosylsphingosine is a hallmark of Fabry disease Proc Natl Acad Sci U S A 105 2008 2812 2817
33. D.P. Germain Fabry disease Orphanet J Rare Dis 5 2010 30
34. F. Breunig, F. Weidemann, and J. Strotmann Clinical benefit of enzyme replacement therapy in Fabry disease Kidney Int 69 2006 1216 1221
35. R. Schiffmann, D.G. Warnock, and M. Banikazemi Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy Nephrol Dial Transpl 24 2009 2102 2111
36. M. Spada, S. Pagliardini, and M. Yasuda High incidence of later-onset fabry disease revealed by newborn screening Am J Hum Genet 79 2006 31 40
37. W.L. Hwu, Y.H. Chien, and N.C. Lee Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) Hum Mutat 30 2009 1397 1405
38. L. van der Tol, B.E. Smid, and B.J. Poorthuis A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance J Med Genet 51 2014 1 9
39. K.D. MacDermot, A. Holmes, and A.H. Miners Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females J Med Genet 38 2001 769 775
40. P.B. Deegan, F. Bahner, and M. Barba Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy 2006 Fabry Disease: Perspectives from 5 Years of FOS
41. W.R. Wilcox, J.P. Oliveira, and R.J. Hopkin Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry Mol Genet Metab 93 2008 112 128
42. M.G. Bouwman, S.M. Rombach, and E. Schenk Prevalence of symptoms in female Fabry disease patients: a case-control survey J Inherit Metab Dis 35 2012 891 898
43. M. Niemann, A. Rolfs, and S. Stork Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease Circ Cardiovasc Genet 7 2014 8 16
44. S. Nakao, T. Takenaka, and M. Maeda An atypical variant of Fabry's disease in men with left ventricular hypertrophy N Engl J Med 333 1995 288 293
45. W. von Scheidt, C.M. Eng, and T.F. Fitzmaurice An atypical variant of Fabry's disease with manifestations confined to the myocardium N Engl J Med 324 1991 395 399
46. S.M. Meehan, T. Junsanto, and J.J. Rydel Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications Am J Kidney Dis 43 2004 164 171
47. S. Nakao, C. Kodama, and T. Takenaka Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype Kidney Int 64 2003 801 807
48. S.M. Rombach, T.B. Twickler, and J.M. Aerts Vasculopathy in patients with Fabry disease: current controversies and research directions Mol Genet Metab 99 2010 99 108
49. G. Jain, and D.G. Warnock Blood pressure, proteinuria and nephropathy in Fabry disease Nephron Clin Pract 118 2011 c43 c48
50. M. Biegstraaten, G.E. Linthorst, and I.N. van Schaik Fabry disease: a rare cause of neuropathic pain Curr Pain Headache Rep 17 2013 365
51. B. Pierre-Louis, A. Kumar, and W.H. Frishman Fabry disease: cardiac manifestations and therapeutic options Cardiol Rev 17 2009 31 35
52. A. Ojo, H.U. Meier-Kriesche, and G. Friedman Excellent outcome of renal transplantation in patients with Fabry's disease Transplantation 69 2000 2337 2339
53. C.M. Eng, N. Guffon, and W.R. Wilcox Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease N Engl J Med 345 2001 9 16
54. R. Schiffmann, J.B. Kopp, and H.A. Austin Enzyme replacement therapy in Fabry disease: a randomized controlled trial JAMA 285 2001 2743 2749
55. D.A. Hughes, P.M. Elliott, and J. Shah Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa Heart 94 2008 153 158
56. M. Banikazemi, J. Bultas, and S. Waldek Agalsidase-beta therapy for advanced Fabry disease: a randomized trial Ann Intern Med 146 2007 77 86
57. R. Schiffmann, M. Ries, and M. Timmons Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting Nephrol Dial Transpl 21 2006 345 354
58. D.P. Germain, S. Waldek, and M. Banikazemi Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease J Am Soc Nephrol 18 2007 1547 1557
59. M. Beer, F. Weidemann, and F. Breunig Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy Am J Cardiol 97 2006 1515 1518
60. G.E. Linthorst, C.E. Hollak, and W.E. Donker-Koopman Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta Kidney Int 66 2004 1589 1595
61. S.M. Rombach, J.M.F.G. Aerts, and B.J.H.M. Poorthuis Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso) Gb3 reduction and treatment outcome PloS one 7 2012 e47805
62. D.A. Hughes, M.A. Barba Romero, and C.E. Hollak Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS-the Fabry Outcome Survey Mol Genet Metab 103 2011 207 214
63. D.A. Hughes Early therapeutic intervention in females with Fabry disease? Acta Paediatr Suppl 97 2008 41 47
64. D.P. Germain, R. Giugliani, and D.A. Hughes Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies Orphanet J Rare Dis 7 2012 91
65. N. Asano, S. Ishii, and H. Kizu In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives Eur J Biochem 267 2000 4179 4186
66. A. Mehta, M.L. West, and G. Pintos-Morell Therapeutic goals in the treatment of Fabry disease Genet Med 12 2010 713 720
67. C.E. Hollak, and G.E. Linthorst Immune response to enzyme replacement therapy in Fabry disease: impact on clinical outcome? Mol Genet Metab 96 2009 1 3
68. F. Weidemann, M. Niemann, and S. Stork Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications J Intern Med 274 2013 331 341
69. S.M. Rombach, C.E. Hollak, and G.E. Linthorst Cost-effectiveness of enzyme replacement therapy for Fabry disease Orphanet J Rare Dis 8 2013 29
70. S.M. Rombach, B.E. Smid, and G.E. Linthorst Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages J Inherit Metab Dis 37 2014 341 352
71. R.P. El Dib, P. Nascimento, and G.M. Pastores Enzyme replacement therapy for Anderson-Fabry disease Cochrane Database Syst Rev 2 2013 CD006663
72. S.M. Rombach, B.E. Smid, and M.G. Bouwman Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain Orphanet J Rare Dis 8 2013 47
73. NJ W, KP. Introduction: a 20th anniversary celebration: History and accomplishments of the ICGG Gaucher Registry. Mol Ther.
74. C.E. Hollak, J.M. Aerts, and S. Ayme Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders Orphanet J Rare Dis 6 2011 16