397
Views
37
CrossRef citations to date
0
Altmetric
Review

Goal-oriented therapy with miglustat in Gaucher disease

, , &
Pages 23-37 | Accepted 24 Oct 2008, Published online: 21 Nov 2008

References

  • Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;160:2835-43
  • Beutler E, Grabowski GA. Glycosylceramide lipidoses: Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, et al. eds. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill, 1995, pp. 2641–70
  • Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Baillieres Clin Haematol 1997;10:657-89
  • Mistry PK, Sirrs S, Chan A, et al. Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab 2002;77:91-8
  • Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, et al. eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001, pp. 3635-68
  • Hruska KS, LaMarca ME, Scott CR, et al. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mut 2008;29:567-83
  • Pastores GM, Barnett NL, Bathan P, et al. A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis 2003;26:641-5
  • Chérin P, Sedel F, Mignot C, et al. [Neurological manifestations of type 1 Gaucher's disease: is a revision of disease classification needed?] Rev Neurol (Paris) 2006;162:1076-83 (In French)
  • Sidransky E. Gaucher disease: complexity in a “simple” disorder. Mol Genet Metab 2004;83:6-15
  • Hollak CE, Biegstraaten M Van Schaik, in et al. Prevalence of polyneuropathy in adult Type 1 Gaucher disease (GD1): a multinational prospective observational study. Poster presented at the 2007 Annual Congress of the Society of the Study of Inborn Errors of Metabolism (SSIEM), Hamburg, Germany, September 4–7
  • Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004;41( Suppl. 5):4-14
  • Genzyme Corporation. Cerezyme® (imiglucerase for injection) Prescribing Information. Available at: http://www.cerezyme.com/global/pi.pdf [Last accessed 18 July 2008]
  • Platt FM, Neises GR, Dwek RA, et al. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 1994;269:8362-5
  • Miglustat Summary of Product Characteristics. Available at: http://www.emea.europa.eu/humandocs/Humans/EPAR/zavesca/zavesca.htm [Last accessed 20 October 2008]
  • Actelion Pharmaceuticals US, Inc. Zavesca® (miglustat capsules) Prescribing Information. Available at: http://www.zavesca.com/pdfs/zavesca_pi.pdf [Last accessed 18 July 2008]
  • Cox T, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000;355:1481-5
  • Elstein D, Hollak C, Aerts JM, et al. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 2004;27:757-66
  • Pastores GM, Barnett NL, Kolodny EH. An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. Clin Ther 2005;27:1215-27
  • Pastores GM, Elstein D, Zimran A. Effect of miglustat on bone disease in adult type 1 Gaucher disease. Clin Ther 2007;29:1645-54
  • Giraldo P, Latre P, Alfonso P, et al. Short-term effect of miglustat in every day clinical use in treatment-naive or previously treated patients with type 1 Gaucher's disease. Haematologica 2006;91:703-6
  • Elstein D, Dweck A, Attias D, et al. Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood 2007;110:2296-301
  • Wenstrup RJ, Roca-Espiau M, Weinreb NJ, et al. Skeletal aspects of Gaucher disease: a review. Br J Radiol 2002;75(Suppl. 1):2-12
  • Mankin HJ, Trahan CA, Barnett NA, et al. A questionnaire study for 128 patients with Gaucher disease. Clin Genet 2006;69:209-17
  • Kaplan P, Andersson HC, Kacena KA, et al. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006;160:603-8
  • Giraldo P, Solano V, Pérez-Calvo JI, et al. Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res 2005;14:453-62
  • Stowens DW, Teitelbaum SL, Kahn AJ, et al. Skeletal complications of Gaucher disease. Medicine 1985;64:310-22
  • Kolodny EH, Ullman MD, Mankin HJ, et al. Phenotypic manifestations of Gaucher disease clinical features in 48 biochemically verified Type 1 Gaucher patients and comment on Type 2 patients. In: Desnick RJ, Gatt S, Grabowski GA, eds. Gaucher Disease: a Century of Delineation and Research. New York: Alan R Liss, 1982, pp. 33-65
  • Pastores GM, Wallenstein S, Desnick RJ, et al. Bone density in type I Gaucher disease. J Bone Miner Res 1996;11:1801-7
  • Javier RM, Hachulla E. Osteoarticular manifestations of Gaucher disease in adults: pathophysiology and treatment. Presse Med 2007;36:1971-84
  • Baldellou A, Andria G, Campbell PE, et al. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr 2004;163:67-75
  • vom Dahl S, Poll L, Di Rocco M, et al. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin 2006;22:1045-64
  • Maas M, Hangartner T, Mariani G, et al. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol 2008;37:185-8
  • Treiber A, Morand O, Clozel M. The pharmacokinetics and tissue distribution of miglustat in the rat. Xenobiotica 2007;37:298-314
  • Fukumoto S, Iwamoto T, Sakai E, et al. Current topics in pharmacological research on bone metabolism: osteoclast differentiation regulated by glycosphingolipids. J Pharmacol Sci. 2006;100:195-200
  • Mikosch P, Reed M, Baker C,, et al. Changes of bone metabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustat. Calcif Tissue Int 2008;83:43-54
  • Hollak CEM, van Weely S, Maas M, et al. Bone disease and Zavesca™ (miglustat) – new insights and results. Poster presented at the 2004 Annual Congress of the Society of the Study of Inborn Errors of Metabolism (SSIEM), Amsterdam, The Netherlands, 31 August–3 September
  • Aerts JM, Hollak CE, Boot RG, et al. Substrate reduction therapy of glycosphingolipid storage disorders. J Inherit Metab Dis 2006;29:449-56
  • Poll LW, Maas M, Terk MR, et al. Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol 2002;75(Suppl. 1):25-36
  • Roca M, Latre P, Alfonso C,, et al. Bone densitometry usefully in the evaluation of bone disease in type 1 Gaucher patients. A preliminary comparative study. Poster presented at the 2008 conference of the European Working Group on Gaucher Disease (EWGGD), Budapest, Hungary, 4-7 June
  • Hayes RP, Grinzaid KA, Duffey EB, et al. The impact of Gaucher disease and its treatment on quality of life. Qual Life Res 1998;7:521-34
  • Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 2002;113:112-9
  • Mehta A. Clinical experience with substrate reduction therapy. Eur J Intern Med 2006;17:13-15
  • Heitner R, Hrebicek M, Elstein C,, et al. An open-label study of 5-years treatment with miglustat in adult patients with type 1 Gaucher disease. Poster presented at the 54th Annual Meeting of the American Society of Human Genetics (ASH-G), New Orleans, USA, 9–13 October, 2006
  • Hill SC, Reining JW, Barranger JA, et al. Gaucher disease: sonographic appearance of the spleen. Radiology 1986;160:631-634
  • Dawson A, Elias DJ, Rubenson D, et al. Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome. Ann Intern Med 1996;125:901-4
  • Elstein D, Klutstein MW, Lahad A, et al. Echocardiographic assessment of pulmonary hypertension in Gaucher's disease. Lancet 1998;351:1544-6
  • Galiè N, Seeger W, Naeije R, et al. Comparative analysis of clinical trials and evidence-based treatment algorithm in pulmonary arterial hypertension. J Am Coll Cardiol 2004;43(12 Suppl. S):81S-88S
  • Schiffmann R, Harris C, DeVile C, et al. Miglustat in Gaucher et al. disease Type 3: a randomized controlled study with a non-comparative extension phase. Ann Neurol 2008 (in press)
  • Hollak CE, Maas M, Aerts JM. Clinically relevant therapeutic endpoints in type 1 Gaucher disease. J Inherit Metab Dis 2001;24( Suppl. 2):97-105
  • Lacerda L, Arosa FA, Lacerda R, et al. T-cell numbers relate to bone involvement in Gaucher disease. Blood Cells Mol Dis 1999;25:130-8
  • Boot RG, Verhoek M, de Fost M, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 2004; 103:33-9
  • Hollak CE, van Weely S, van Oers MH, et al. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 1994;93:1288-92
  • Korolenko TA, Zhanaeva SY, Falameeva OV, et al. Chitotriosidase as a marker of macrophage stimulation. Bull Exp Biol Med 2000;130:948-50
  • Hughes DA, Ginsberg L, Baker R, et al. Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: a case report of 24 months’ oral substrate reduction therapy with miglustat. Parkinsonism Relat Dis 2007;13:365-8
  • Hollak C, Hughes D, van Schaik IN,, et al. Miglustat (Zavesca) in type 1 Gaucher disease: results of a post-marketing surveillance programme. Poster presented at the 2008 conference of the European Working Group on Gaucher Disease (EWGGD), Budapest, Hungary, 4–7 June
  • Batiecie L, Detel D, Varljen J. Age dependent changes in activity of intestinal disaccharidases and alkaline phosphatase activity in CD26 deficient mice. Croat Chem Acta 2008;81:59-65
  • Gebhard RL, Karouani R, Prigge WF, et al. The effect of severe zinc deficiency on activity of intestinal disaccharidases and 3-hydroxy-3-methylglutaryl coenzyme A reductase in the rat. J Nutr 1983;113:855-9
  • Cox TM, Aerts JM, Andria G, et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis 2003;26:513-26
  • Heitner R, Elstein D, Aerts J, et al. Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis 2002;28:127-33
  • Elstein D, Dweck A, Attias D, et al. Oral maintenance of miglustat in adult patients with type 1 Gaucher disease: the patients’ quality of life perspective. Poster presented at the 2007 Annual Congress of the Society of the Study of Inborn Errors of Metabolism (SSIEM), Hamburg, Germany, 4–7 September
  • Wenstrup RJ, Bailey L, Grabowski GA, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood 2004;104:1253-7
  • De Fost M, Hollak CEM, Groener JEM, et al. Superior effects of high dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels; a two center retrospective analysis. Blood 2006;108:830-5
  • Zimran A, Elstein D, Beutler E. Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease. Blood 2006;108:802-3
  • Jaussaud R, Javier RM, Rose C,, et al. French Observatoire on Gaucher disease (FROG): results on 107 patients. Abstract presented at the 2007 Annual Congress of the Society of the Study of Inborn Errors of Metabolism (SSIEM), Hamburg, Germany, 4–7 September (422-P)

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.