Current and Emerging Pharmacotherapy for Gaucher Disease

1.

Devine EA, Smith M, Arredondo-Vega FX, Shafit-Zagardo B, Desnick RJ. Regional assignment of the structural gene for human acid beta- glucosidase to q42 leads to qter on chromosome 1. Cytogenet Cell Genet. 1982;33:340–4.

CAS  PubMed  Google Scholar 

2.

Beutler E, Gelbart T. Glucocerebrosidase (Gaucher disease). Hum Mutat. 1996;8(3):207–13.

CAS  PubMed  Google Scholar 

3.

Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem Biophys Res Commun. 1965;18:221–5.

CAS  PubMed  Google Scholar 

4.

Sidransky E. Gaucher disease: complexity in a “simple” disorder. Mol Genet Metab. 2004;83(1–2):6–15.

CAS  PubMed  Google Scholar 

5.

Pastores GM, Hugues DA. Gaucher Disease. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seatle: University of Washington; 1993-2019. 2000 Jul 27 [updated 2018 Jun 21].http://www.ncbi.nlm.nih.gov/books/NBK1269/.

6.

Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr. 2003;143:273–6.

PubMed  Google Scholar 

7.

Mistry PK, Belmatoug N, vom Dahl S, Giugliani R. Understanding the natural history of Gaucher disease. Am J Hematol. 2015;90 Suppl 1:S6–11.

PubMed  Google Scholar 

8.

Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, et al. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab. 2004;82(3):192–207.

CAS  PubMed  Google Scholar 

9.

Alfonso P, Aznarez S, Giralt M, Pocovi M, Giraldo P, Spanish Gaucher’s Disease Registry. Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. J Hum Genet 2007;52:391–396.

CAS  PubMed  Google Scholar 

10.

Giraldo P, Alfonso P, Irún P, Gort L, Chabás A, Vilageliu L, et al. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet J Rare Dis. 2012;7:17.

PubMed  PubMed Central  Google Scholar 

11.

Grabowski GA, Zimran A, Ida H. Gaucher disease types 1 and 3: phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015;90(Suppl 1):S12–8.

PubMed  Google Scholar 

12.

Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, et al. Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease. Orphanet J Rare Dis. 2017;12(1):84.

PubMed  PubMed Central  Google Scholar 

13.

Di Rocco M, Andria G, Deodato F, Giona F, Micalizzi C, Pession A. Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm. Pediatr Blood Cancer. 2014;61(11):1905–9.

PubMed  Google Scholar 

14.

Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, et al. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Am J Hematol. 2017;92:929–39.

CAS  PubMed  PubMed Central  Google Scholar 

15.

Roshan Lal T, Sidransky E. The spectrum of neurological manifestations associated with Gaucher disease. Diseases. 2017 Mar;2:5(1).

Google Scholar 

16.

Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci U S A. 1990;87:1913–6.

CAS  PubMed  PubMed Central  Google Scholar 

17.

El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, et al. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Mol Genet Metab. 2017;120:47–56.

CAS  PubMed  Google Scholar 

18.

Zimran A, Loveday K, Fratazzi C, Elstein D. A pharmacokinetic analysis of a novel enzyme replacement therapy with gene-activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease. Blood Cells Mol Dis. 2007;39:115–8.

CAS  PubMed  Google Scholar 

19.

Fox JL. First plant-made biologic approved. Nat Biotechnol. 2012;30:472.

CAS  Google Scholar 

20.

Lee BH, Abdalla AF, Choi JH, Beshlawy AE, Kim GH, Heo SH, et al. A multicenter, open-label, phase III study of Abcertin in Gaucher disease. Medicine (Baltimore). 2017;96(45):e8492.

CAS  Google Scholar 

21.

Gaucher Disease. A strategic collaborative approach from EMA and FDA. European Medicines Agency 2014;EMA/44410/2014.http://www.ema.europa.eu/docs/en_GB/document_library/Regulatory_and_procedural_ guideline/2014/05/WC500166587.pdf.

22.

Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics. 2008;122(6):1182–90.

PubMed  Google Scholar 

23.

Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 Suppl 5):4–14.

PubMed  Google Scholar 

24.

Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, et al. Management goals for type 1 Gaucher disease: an expert consensus document from the European working group on Gaucher disease. Blood Cells Mol Dis. 2018;68:203–8.

CAS  PubMed  Google Scholar 

25.

Giraldo P, Solano V, Pérez-Calvo JI, Giralt M, Rubio-Félix D. Spanish Group on Gaucher disease. Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res. 2005;14:453–62.

PubMed  Google Scholar 

26.

Di Rocco M, Andria G, Bembi B, Carubbi F, Giona F, Giuffrida G, et al. Minimal disease activity in Gaucher disease: criteria for definition. Mol Genet Metab. 2012;107:521–5.

PubMed  Google Scholar 

27.

Hurvitz N, Dinur T, Becker-Cohen M, Cozma C, Hovakimyan M, Oppermann S, et al. Glucosylsphingosine (lyso-Gb1) as a biomarker for monitoring treated and untreated children with Gaucher disease. Int J Mol Sci. 2019 Jun;21:20(12).

Google Scholar 

28.

Starzyk K, Richards S, Yee J, Smith SE, Kingma W. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab. 2007;90(2):157–63.

CAS  PubMed  Google Scholar 

29.

Langeveld M, Ghauharali KJ, Sauerwein HP, Ackermans MT, Groener JE, Hollak CE, et al. Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance. J Clin Endocrinol Metab. 2008;93(3):845–51.

CAS  PubMed  Google Scholar 

30.

Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher’s disease. N Engl J Med. 1991;324(21):1464–70.

CAS  PubMed  Google Scholar 

31.

Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995;122(1):33–9.

CAS  PubMed  Google Scholar 

32.

Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, et al. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet. 2008;73(5):430–40.

CAS  PubMed  PubMed Central  Google Scholar 

33.

Shaaltiel Y, Bartfeld D, Hashmueli S, Baum G, Brill-Almon E, Galili G, et al. Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher’s disease using a plant cell system. Plant Biotechnol J. 2007;5(5):579–90.

CAS  PubMed  Google Scholar 

34.

Zimran A, Brill-Almon E, Chertkoff R, Petakov M, Blanco-Favela F, Muñoz ET, et al. Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood. 2011;118:5767–73.

CAS  PubMed  Google Scholar 

35.

Pastores GM, Petakov M, Giraldo P, Rosenbaum H, Szer J, Deegan PB, et al. A phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase. Blood Cells Mol Dis. 2014;53:253–60.

CAS  PubMed  Google Scholar 

36.

Zimran A, Gonzalez-Rodriguez DE, Abrahamov A, Cooper PA, Varughese S, Giraldo P, et al. Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase. Blood Cells Mol Dis. 2018;68:163–72.

CAS  PubMed  Google Scholar 

37.

Zimran A, Gonzalez-Rodriguez DE, Abrahamov A, Elstein D, Paz A, Brill-Almon E, et al. Safety and efficacy of two dose levels of taliglucerase alfa in pediatric patients with Gaucher disease. Blood Cells Mol Dis. 2015;54:9–16.

CAS  PubMed  Google Scholar 

38.

Abbas R, Park G, Damle B, Chertkoff R, Alon S. Pharmacokinetics of novel plant cell-expressed taliglucerase alfa in adult and pediatric patients with Gaucher disease. PLoS One. 2015;10(6):e0128986.

PubMed  PubMed Central  Google Scholar 

39.

Zimran A, Wajnrajch M, Hernandez B, Pastores GM. Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease. Orphanet J Rare Dis. 2018;13:36.

PubMed  PubMed Central  Google Scholar 

40.

Zimran A, Durán G, Giraldo P, Rosenbaum H, Giona F, Petakov M, et al. Long-term efficacy and safety results of taliglucerase alfa through 5years in adult treatment-naïve patients with Gaucher disease. Blood Cells Mol Dis. 2019;78:14–21.

CAS  PubMed  Google Scholar 

41.

Zimran A, Dinur T, Revel-Vilk S, Akkerman EM, van Dussen L, Hollak CEM, et al. Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa. J Inherit Metab Dis. 2018;41(6):1259–65.

CAS  PubMed  PubMed Central  Google Scholar 

42.

Zimran A, Altarescu G, Philips M, Attias D, Jmoudiak M, Deeb M, et al. Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-monthexperience. Blood. 2010;115(23):4651–6.

CAS  PubMed  Google Scholar 

43.

Zimran A, Wang N, Ogg C, Crombez E, Cohn GM, Elstein D. Seven-year safety and efficacy with velaglucerase alfa for treatment-naïve adult patients with type 1 Gaucher disease. Am J Hematol. 2015;90(7):577–83.

CAS  PubMed  PubMed Central  Google Scholar 

44.

Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, et al. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol. 2013;88:172–8.

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