Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

Molecular Genetics and Metabolism

Volumn 117, Issue 2, 2016, Pages 95-103

  Balwani, Manisha ^a   Burrow, Thomas Andrew ^b   Charrow, Joel ^c   Goker Alpan, Ozlem ^d   Kaplan, Paige ^e   Kishnani, Priya S ^f   Mistry, Pramod ^g   Ruskin, Jeremy ^h   Weinreb, Neal ⁱ  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c NORTHWESTERN UNIVERSITY   (United States)

^d O and O Alpan   (United States)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

^g YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ University Research Foundation for Lysosomal Storage Diseases   (United States)

Author keywords

Eliglustat; Enzyme replacement therapy; Gaucher disease type 1; Substrate reduction therapy

Indexed keywords

CERAMIDE GLUCOSYLTRANSFERASE; CYTOCHROME P450 2D6; CYTOCHROME P450 2D6 INHIBITOR; CYTOCHROME P450 3A INDUCER; CYTOCHROME P450 3A INHIBITOR; ELIGLUSTAT; GLUCOSYLCERAMIDE; ENZYME INHIBITOR; PYRROLIDINE DERIVATIVE;

DRUG INDICATION; ELECTROCARDIOGRAM; ENZYME INHIBITION; EUROPEAN UNION; GAUCHER DISEASE; GAUCHER DISEASE TYPE 1; GENOTYPE; HUMAN; KIDNEY FUNCTION; LACTATION; LIVER FUNCTION; MEDICATION COMPLIANCE; PATIENT CARE; PATIENT MONITORING; PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PHYSICIAN; PRACTICE GUIDELINE; PREGNANCY; PRIORITY JOURNAL; REVIEW; TREATMENT CONTRAINDICATION; TREATMENT PLANNING; UNITED STATES; ANIMAL; DISEASE MANAGEMENT; ENZYME REPLACEMENT; PATIENT COMPLIANCE; TREATMENT OUTCOME;

ANIMALS; DISEASE MANAGEMENT; ENZYME INHIBITORS; ENZYME REPLACEMENT THERAPY; GAUCHER DISEASE; HUMANS; PATIENT COMPLIANCE; PYRROLIDINES; TREATMENT OUTCOME; UNITED STATES;

EID: 84957850237     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.09.002     Document Type: Review

References (52)

1. Grabowski G.A., Andria G., Baldellou A., Campbell P.E., Charrow J., Cohen I.J., Harris C.M., Kaplan P., Mengel E., Pocovi M., Vellodi A. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur. J. Pediatr. 2004, 163(2):58-66.
2. Grabowski G.A., Petsko G.A., Kolodny E.H. Gaucher disease. OMMBID: The Online Metabolic and Molecular Bases of Inherited Disease 2013, McGraw-Hill, New York, NY, (Available at: http://ommbid.mhmedical.com/content.aspx?bookid=474&Sectionid=45374148). D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler, S.E. Antonarakis, A. Ballabio, K. Gibson, G. Mitchell (Eds.).
3. Grabowski G.A. Gaucher disease: enzymology, genetics, and treatment. Advances in Human Genetics 1993, 377-441. Plenum Press, New York, NY. H. Harris, K. Hirschorn (Eds.).
4. Charrow J., Andersson H.C., Kaplan P., Kolodny E.H., Mistry P., Pastores G., Rosenbloom B.E., Scott C.R., Wappner R.S., Weinreb N.J., Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch. Intern. Med. 2000, 160(18):2835-2843.
5. Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol. Genet. Metab. 2011, 104(4):438-447.
6. Mistry P.K., Deegan P., Vellodi A., Cole J.A., Yeh M., Weinreb N.J. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br. J. Haematol. 2009, 147(4):561-570.
7. Mistry P.K., Sirrs S., Chan A., Pritzker M.R., Duffy T.P., Grace M.E., Meeker D.P., Goldman M.E. Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol. Genet. Metab. 2002, 77(1-2):91-98.
8. Mistry P.K., Weinreb N.J., Kaplan P., Cole J.A., Gwosdow A.R., Hangartner T. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol. Dis. 2011, 46(1):66-72.
9. Pastores G.M., Weinreb N.J., Aerts H., Andria G., Cox T.M., Giralt M., Grabowski G.A., Mistry P.K., Tylki-Szymanska A. Therapeutic goals in the treatment of Gaucher disease. Semin. Hematol. 2004, 41(Suppl. 5):4-14.
10. Terk M.R., Dardashti S., Liebman H.A. Bone marrow response in treated patients with Gaucher disease: evaluation by T1-weighted magnetic resonance images and correlation with reduction in liver and spleen volume. Skelet. Radiol. 2000, 29(10):563-571.
11. Damiano A.M., Pastores G.M., Ware J.E. The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Qual. Life Res. 1998, 7(5):373-386.
12. Giraldo P., Solano V., Perez-Calvo J.I., Giralt M., Rubio-Felix D. Quality of life related to type 1 Gaucher disease: Spanish experience. Qual. Life Res. 2005, 14(2):453-462.
13. Hayes R.P., Grinzaid K.A., Duffey E.B., Elsas L.J. The impact of Gaucher disease and its treatment on quality of life. Qual. Life Res. 1998, 7(6):521-534.
14. Weinreb N.J., Barranger J., Packman S., Prakash-Cheng A., Rosenbloom B., Sims K., Angell J., Skrinar A., Pastores G.M. Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin. Genet. 2007, 71(6):576-588.
15. Mistry P.K., Weinthal J.A., Weinreb N.J. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clin. Adv. Hematol. Oncol. 2012, 10(Suppl. 8):1-16.
16. Charrow J., Dulisse B., Grabowski G.A., Weinreb N.J. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin. Genet. 2007, 71(3):205-211.
17. Grabowski G.A., Barton N.W., Pastores G., Dambrosia J.M., Banerjee T.K., McKee M.A., Parker C., Schiffmann R., Hill S.C., Brady R.O. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann. Intern. Med. 1995, 122(1):33-39.
18. Weinreb N.J., Charrow J., Andersson H.C., Kaplan P., Kolodny E.H., Mistry P., Pastores G., Rosenbloom B.E., Scott C.R., Wappner R.S., Zimran A. 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(2):112-119.
19. Weinreb N.J., Goldblatt J., Villalobos J., Charrow J., Cole J.A., Kerstenetzky M., vom Dahl S., Hollak C. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J. Inherit. Metab. Dis. 2013, 36(3):543-553.
20. Wenstrup R.J., Kacena K.A., Kaplan P., Pastores G.M., Prakash-Cheng A., Zimran A., Hangartner T.N. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J. Bone Miner. Res. 2007, 22(1):119-126.
21. Mistry P.K., Liu J., Yang M., Nottoli T., McGrath J., Jain D., Zhang K., Keutzer J., Chuang W.L., Mehal W.Z., Zhao H., Lin A., Mane S., Liu X., Peng Y.Z., Li J.H., Agrawal M., Zhu L.L., Blair H.C., Robinson L.J., Iqbal J., Sun.L., Zaidi M. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc. Natl. Acad. Sci. U. S. A. 2010, 107(45):19,473-19,478.
22. de Fost M., van Noesel C.J., Aerts J.M., Maas M., Poll R.G., Hollak C.E. Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy. Haematologica 2008, 93(7):1119-1120.
23. Deegan P.B., Pavlova E., Tindall J., Stein P.E., Bearcroft P., Mehta A., Hughes D., Wraith J.E., Cox T.M. Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore) 2011, 90(1):52-60.
24. McEachern K.A., Fung J., Komarnitsky S., Siegel C.S., Chuang W.L., Hutto E., Shayman J.A., Grabowski G.A., Aerts J.M., Cheng S.H., Copeland D.P., Marshall J. A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol. Genet. Metab. 2007, 91(3):259-267.
25. Shayman J.A. Eliglustat tartrate: glucosylceramide synthase inhibitor treatment of type 1 Gaucher disease. Drugs Future 2010, 35(8):613-620.
26. Zavesca (miglustat) US Prescribing Information 2014, Actelion Pharmaceuticals US, Inc., South San Francisco, CA.
27. Platt F.M., Neises G.R., Karlsson G.B., Dwek R.A., Butters T.D. N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. J. Biol. Chem. 1994, 269(43):27108-27114.
28. Shayman J.A. The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?. Trans. Am. Clin. Climatol. Assoc. 2013, 124:46-60.
29. Hicks J.K., Swen J.J., Thorn C.F., Sangkuhl K., Kharasch E.D., Ellingrod V.L., Skaar T.C., Muller D.J., Gaedigk A., Stingl J.C. C. Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants. Clin. Pharmacol. Ther. 2013, 93(5):402-408.
30. Kamath R.S., Lukina E., Watman N., Dragosky M., Pastores G.M., Arreguin E.A., Rosenbaum H., Zimran A., Aguzzi R., Puga A.C., Norfleet A.M., Peterschmitt M.J., Rosenthal D.I. Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skelet. Radiol. 2014, 43(10):1353-1360.
31. Lukina E., Watman N., Arreguin E.A., Banikazemi M., Dragosky M., Iastrebner M., Rosenbaum H., Phillips M., Pastores G.M., Rosenthal D.I., Kaper M., Singh T., Puga A.C., Bonate P.L., Peterschmitt M.J. A Phase 2 study of eliglustat tartrate (Genz-112,638), an oral substrate reduction therapy for Gaucher disease type 1. Blood 2010, 116(6):893-899.
32. Lukina E., Watman N., Arreguin E.A., Dragosky M., Iastrebner M., Rosenbaum H., Phillips M., Pastores G.M., Kamath R.S., Rosenthal D.I., Kaper M., Singh T., Puga A.C., Peterschmitt M.J. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112,638) treatment: 2-year results of a phase 2 study. Blood 2010, 116(20):4095-4098.
33. Lukina E., Watman N., Dragosky M., Pastores G.M., Arreguin E.A., Rosenbaum H., Zimran A., Angell J., Ross L., Puga A.C., Peterschmitt M.J. Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment. Blood Cells Mol. Dis. 2014, 53(4):274-276.
34. Mistry P.K., Lukina E., Ben Turkia H., Amato D., Baris H., Dasouki M., Ghosn M., Mehta A., Packman S., Pastores G., Petakov M., Assouline S., Balwani M., Danda S., Hadjiev E., Ortega A., Shankar S., Solano M.H., Ross L., Angell J., Peterschmitt M.J. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA 2015, 313(7):695-706.
35. Cox T.M., Drelichman G., Cravo R., Balwani M., Burrow T.A., Martins A.M., Lukina E., Rosenbloom B., Ross L., Angell J., Puga A.C. Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial. Lancet 2015, 385:2355-2362.
36. Charrow J., Esplin J.A., Gribble T.J., Kaplan P., Kolodny E.H., Pastores G.M., Scott C.R., Wappner R.S., Weinreb N.J., Wisch J.S. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch. Intern. Med. 1998, 158(16):1754-1760.
37. Mistry P.K., Cappellini M.D., Lukina E., Ozsan H., Mach Pascual S., Rosenbaum H., Helena Solano M., Spigelman Z., Villarrubia J., Watman N.P., Massenkeil G. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am. J. Hematol. 2011, 86(1):110-115.
38. Weinreb N.J., Aggio M.C., Andersson H.C., Andria G., Charrow J., Clarke J.T., Erikson A., Giraldo P., Goldblatt J., Hollak C., Ida H., Kaplan P., Kolodny E.H., Mistry P., Pastores G.M., Pires R., Prakash-Cheng A., Rosenbloom B.E., Scott C.R., Sobreira E., Tylki-Szymanska A., Vellodi A., vom Dahl S., Wappner R.S., Zimran A. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin. Hematol. 2004, 41(Suppl. 5):15-22.
39. CERDELGA™ (eliglustat) ([package insert]), Genzyme Corporation, a Sanofi Company, Waterford, Ireland, August 2014.
40. Turpault S., Meng Z., Wang S., von Moltke L. CYP2D6 phenotype-based dosing of eliglustat [abstract]. Molec. Genet. Metab. 2015, 114(2):S118.
41. Pastores G.M., Hughes D.A. Gaucher disease. GeneReviews 2013, University of Washington, Seattle, Seattle, WA, (Available at: http://www.ncbi.nlm.nih.gov/books/NBK1269/). R.A. Pagon, M.P. Adam, H.H. Ardinger (Eds.).
42. Elstein D., Hughes D., Goker-Alpan O., Stivel M., Baris H.N., Cohen I.J., Granovsky-Grisaru S., Samueloff A., Mehta A., Zimran A. Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease. J. Obstet. Gynaecol. Res. 2014, 40(4):968-975.
43. Granovsky-Grisaru S., Belmatoug N., vom Dahl S., Mengel E., Morris E., Zimran A. The management of pregnancy in Gaucher disease. Eur. J. Obstet. Gynecol. Reprod. Biol. 2011, 156(1):3-8.
44. Sekijima Y., Ohashi T., Ohira S., Kosho T., Fukushima Y. Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk. Clin. Ther. 2010, 32(12):2048-2052.
45. 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):1182-1190.
46. Ross L., Peterschmitt M.J., Puga A.C., Cox G.F., Marulkar S., Angell J., Gaemers B., Mankoski R. Eliglustat adverse event data from a pooled analysis of four trials in Gaucher disease type 1 [abstract]. Mol. Genet. Metab. 2014, 111(2):S90.
47. Zavesca (miglustat) Summary of Product Characteristics 2013, Actelion Pharmaceuticals UK Ltd.
48. Cox T., Lachmann R., Hollak C., Aerts J., van Weely S., Hrebicek M., Platt F., Butters T., Dwek R., Moyses C., Gow I., Elstein D., Zimran A. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000, 355(9214):1481-1485.
49. Cox T.M., Amato D., Hollak C.E., Luzy C., Silkey M., Giorgino R., Steiner R.D. Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study. Orphanet J. Rare Dis. 2012, 7(1):102.
50. Lau H., Ibrahim J., Peterschmitt M.J., Ross L. Tremor and peripheral neuropathy are infrequent and non-serious events in Gaucher type 1 patients treated with eliglustat [abstract]. Molec. Genet. Metab. 2015, 114(2):S69-S70.
51. Khan A., Hangartner T., Weinreb N.J., Taylor J.S., Mistry P.K. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J. Bone Miner. Res. 2012, 27(8):1839-1848.
52. Weinreb N.J., Finegold D.N., Feingold E., Zeng Z., Rosenbloom B.E., Shankar S.P., Amato D. Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3). Orphanet J. Rare Dis. 2015, 10(1):64.