Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study

Blood Cells, Molecules, and Diseases

Volumn 51, Issue 2, 2013, Pages 116-124

  Kuter, David J ^a   Mehta, Atul ^b   Hollak, Carla E M ^c   Giraldo, Pilar ^d   Hughes, Derralynn ^e   Belmatoug, Nadia ^f   Brand, Monika ^g   Muller, Audrey ^g   Schaaf, Berthold ^h   Giorgino, Ruben ^g   Zimran, Ari ⁱ  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b ROYAL FREE HOSPITAL   (United Kingdom)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^e ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^f BEAUJON HOSPITAL   (France)

^g ACTELION PHARMACEUTICALS LTD   (Switzerland)

^h Factum   (Germany)

ⁱ SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

Gaucher disease; Miglustat; Outcomes; Safety; Tolerability

Indexed keywords

CHITOTRIOSIDASE; HEMOGLOBIN; MIGLUSTAT;

ABDOMINAL PAIN; ADULT; ANEMIA; ARTICLE; AVASCULAR NECROSIS; CLINICAL PRACTICE; COHORT ANALYSIS; DIARRHEA; DIGESTIVE SYSTEM FUNCTION DISORDER; DRUG SAFETY; DRUG TOLERABILITY; DRUG WITHDRAWAL; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME REPLACEMENT; EUROPEAN UNION; FEMALE; FLATULENCE; FRACTURE; GASTROINTESTINAL HEMORRHAGE; GASTROINTESTINAL SYMPTOM; GAUCHER DISEASE; HEMOGLOBIN BLOOD LEVEL; HEPATOMEGALY; HUMAN; LONGITUDINAL STUDY; LOOSE FECES; MAJOR CLINICAL STUDY; MALE; MONOTHERAPY; MULTICENTER STUDY; NEUROLOGIC DISEASE; OBSERVATIONAL STUDY; ORGAN SIZE; OSTEOPOROSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SPLENOMEGALY; THROMBOCYTE COUNT; THROMBOCYTOPENIA; TREATMENT FAILURE; TREATMENT OUTCOME; TREMOR; UNITED STATES;

1-DEOXYNOJIRIMYCIN; ADOLESCENT; ADULT; AGED; ALPHA-GLUCOSIDASES; CHILD; CHILD, PRESCHOOL; FEMALE; GAUCHER DISEASE; HEMOGLOBINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; RETROSPECTIVE STUDIES; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84878381985     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2013.04.005     Document Type: Article

References (26)

1. Beutler E., Grabowski G.A. Gaucher disease. The Metabolic and Molecular Basis of Inherited Disease 1995, 3635-3668. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
2. 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., et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch. Intern. Med. 2000, 160:2835-2843.
3. Cox T.M., Schofield J.P. Gaucher's disease: clinical features and natural history. Baillieres Clin. Haematol. 1997, 10:657-689.
4. Elstein D., Hollak C., Aerts J.M., van Weely S., Maas M., Cox T.M., Lachmann R.H., Hrebicek M., Platt F.M., Butters T.D., et al. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J. Inherit. Metab. Dis. 2004, 27:757-766.
5. Cox T., Lachmann R., Hollak C., Aerts J., van Weely S., Hrebicek M., Platt F., Butters T., Dwek R., Moyses C., et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000, 355:1481-1485.
6. Heitner R., Elstein D., Aerts J., Weely S., Zimran A. Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol. Dis. 2002, 28:127-133.
7. Actelion Miglustat (Zavesca) Summary of Product Characteristics 2010, EMA (EudraPharm).
8. Pastores G.M., Giraldo P., Cherin P., Mehta A. Goal-oriented therapy with miglustat in Gaucher disease. Curr. Med. Res. Opin. 2009, 25:23-37.
9. Elstein D., Dweck A., Attias D., Hadas-Halpern I., Zevin S., Altarescu G., Aerts J.F., van Weely S., Zimran A. Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood 2007, 110:2296-2301.
10. Pastores G.M., Elstein D., Hrebicek M., Zimran A. Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin. Ther. 2007, 29:1645-1654.
11. Giraldo P., Latre P., Alfonso P., Acedo A., Alonso D., Barez A., Corrales A., Franco R., Roldan V., Serrano S., 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, 91:703-706.
12. Steiner R.D., Amato D., Luzy C., Silkey M., Giorgino R., Cox T.M. A 2-year, prospective, open-label, non-inferiority study of miglustat as maintenance therapy in adults with type 1 Gaucher disease (GD1) stabilized on enzyme replacement therapy (ERT). J. Inherit. Metab. Dis. 2011, 34(Suppl. 3):S200.
13. Hollak C.E., Hughes D., van Schaik I.N., Schwierin B., Bembi B. Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme. Pharmacoepidemiol. Drug Saf. 2009, 18:770-777.
14. Pastores G.M., Barnett N.L., Kolodny E.H. An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24months of treatment. Clin. Ther. 2005, 27:1215-1227.
15. Belmatoug N., Burlina A., Giraldo P., Hendriksz C.J., Kuter D.J., Mengel E., Pastores G.M. Gastrointestinal disturbances and their management in miglustat-treated patients. J. Inherit. Metab. Dis. 2011, 34:991-1001.
16. Giraldo P., Alfonso P., Atutxa K., Fernandez-Galan M.A., Barez A., Franco R., Alonso D., Martin A., Latre P., Pocovi M. Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project. Haematologica 2009, 94:1771-1775.
17. Vandenbroucke J.P., von Elm E., Altman D.G., Gotzsche P.C., Mulrow C.D., Pocock S.J., Poole C., Schlesselman J.J., Egger M., Initiative S. Strengthening the Reporting of Observational Studies in Epidemiology (STROBE): explanation and elaboration. PLoS Med. 2007, 4:e297.
18. 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, 41:4-14.
19. Hollak C.E., Belmatoug N., Cole J.A., Vom Dahl S., Deegan P.B., Goldblatt J., Rosenbloom B., van Dussen L., Tylki-Szymanska A., Weinreb N.J., et al. Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5years. Br. J. Haematol. 2012, 158:528-538.
20. Beutler E., Demina A., Laubscher K., Garver P., Gelbart T., Balicki D., Vaughan L. The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells Mol. Dis. 1995, 21:86-108.
21. Champion H., Ramaswami U., Imrie J., Lachmann R.H., Gallagher J., Cox T.M., Wraith J.E. Dietary modifications in patients receiving miglustat. J. Inherit. Metab. Dis. 2010, [Epub ahead of print]. 10.1007/s10545-010-9193-4.
22. Actelion Miglustat Package Insert 2009, FDA, USA.
23. Pastores G.M., Barnett N.L., Bathan P., Kolodny E.H. A neurological symptom survey of patients with type I Gaucher disease. J. Inherit. Metab. Dis. 2003, 26:641-645.
24. Halperin A., Elstein D., Zimran A. Are symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease?. Acta Neurol. Scand. 2007, 115:275-278.
25. Biegstraaten M., van Schaik I.N., Aerts J.M., Hollak C.E. 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J. Inherit. Metab. Dis. 2008, 31:337-349.
26. Biegstraaten M., Mengel E., Marodi L., Petakov M., Niederau C., Giraldo P., Hughes D., Mrsic M., Mehta A., Hollak C.E., et al. Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study. Brain 2010, 133:2909-2919.