Randomized, controlled trial of miglustat in Gaucher's disease type 3

Annals of Neurology

Volumn 64, Issue 5, 2008, Pages 514-522

  Schiffmann, Raphael ^a,g   Fitzgibbon, Edmond J ^b   Harris, Chris ^c   DeVile, Catherine ^d   Davies, Elin H ^d   Abel, Larry ^e   Van Schaik, Ivo N ^f   Benko, William ^a   Timmons, Margaret ^a   Ries, Markus ^a   Vellodi, Ashok ^d  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

^c UNIVERSITY OF PLYMOUTH   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f UNIVERSITY OF AMSTERDAM   (Netherlands)

^g BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTATE AMINOTRANSFERASE; CHITOTRIOSIDASE; GASTROINTESTINAL AGENT; IMIGLUCERASE; MIGLUSTAT; PENICILLIN G; SALBUTAMOL;

ABDOMINAL PAIN; ADOLESCENT; ADULT; ARTICLE; BLOOD ANALYSIS; BONE DISEASE; BONES CRISIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CONVULSION; COUGHING; DIARRHEA; DRUG BLOOD LEVEL; DRUG CEREBROSPINAL FLUID LEVEL; DRUG DOSE REDUCTION; DRUG EFFICACY; DRUG FATALITY; DRUG SAFETY; DRUG WITHDRAWAL; ELECTROMYOGRAPHY; ENZYME ACTIVITY; ENZYME REPLACEMENT; FEMALE; FEVER; GASTROINTESTINAL SYMPTOM; GAUCHER DISEASE; GROWTH RETARDATION; HEADACHE; HUMAN; LABORATORY TEST; LIVER WEIGHT; LUNG FUNCTION TEST; MALE; MONONEUROPATHY; MULTICENTER STUDY; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; PARTIAL THROMBOPLASTIN TIME; PHASE 2 CLINICAL TRIAL; POLYNEUROPATHY; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; RHINOPHARYNGITIS; SACCADIC EYE MOVEMENT; SIDE EFFECT; SPLEEN WEIGHT; TREATMENT DURATION; TREATMENT OUTCOME; TREMOR; VOMITING; WEIGHT REDUCTION;

1-DEOXYNOJIRIMYCIN; ADOLESCENT; CHILD; CHILD, PRESCHOOL; ENDPOINT DETERMINATION; ENZYME INHIBITORS; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HEXOSAMINIDASES; HUMANS; LIVER; LUNG; LUNG DISEASES; MALE; OCULAR MOTILITY DISORDERS; SACCADES; SPLEEN; TREATMENT OUTCOME; YOUNG ADULT;

EID: 57749100376     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21491     Document Type: Article

References (27)

1. Schiffmann R, Vellodi A. Neuronopathic Gaucher disease. In: Futerman T, Zimran A, eds. Gaucher disease. Boca Raton, FL: CRC Press Taylor & Francis, 2007:175-196.
2. 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;160:2835-2843.
3. Patterson MC, Horowitz M, Abel RB, et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology 1993;43:1993-1997.
4. Erikson A, Bembi B, Schiffmann R. Neuronopathic forms of Gaucher's disease. Baillieres Clin Haematol 1997;10:711-723.
5. Schiffmann R, Heyes MP, Aerts JM, et al. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher Disease. Ann Neurol 1997;42:613-621.
6. Campbell PE, Harris CM, Vellodi A. Deterioration of the auditory brainstem response in children with type 3 Gaucher disease. Neurology 2004;63:385-387.
7. Erikson A, Forsberg H, Nilsson M, et al. Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease. Acta Paediatr 2006;95:312-317.
8. Altarescu G, Hill S, Wiggs E, et al. The efficacy of enzyme replacement therapy in patients with type 3 Gaucher disease. J Pediatr 2001;138:539-547.
9. Schiffmann R, Mankin H, Dambrosia JM, et al. Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy. Blood Cells Mol Dis 2002;28:288-296.
10. Miglustat summary of product characteristics. Available at: http://www.emea.europa.eu/humandocs/Humans/EPAR/zavesca/zavesca.htm. Accessed.
11. Miglustat package insert. Available at: http://www.fda.gov/cder/foi/ label/2008/021348s005lbl.pdf. Accessed.
12. Platt FM, Neises GR, Dwek RA, Butters TD. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 1994;269:8362-8365.
13. 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;355:1481-1485.
14. Heitner R, Elstein D, Aerts J, et al. Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis 2002;28:127-133.
15. 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;27:1215-1227.
16. 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;27:757-766.
17. Treiber A, Morand O, Clozel M, et al. The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat. Xenobiotica 2007;37:298-314.
18. Capablo JL, Franco R, de Cabezón AS, et al. Neurologic improvement in a type 3 gaucher disease patient treated with imiglucerase/ miglustat combination. Epilepsia 2007;48:1406-1408.
19. Inchingolo P, Spanio M. On the identification and analysis of saccadic eye movements - a quantitative study of the processing procedures. IEEE Trans Biomed Eng 1985;BME-32:683-695.
20. Patterson MC, Vecchio D, Prady H, et al. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 2007;6:765-772.
21. Lachmann RH, Wright N, Parker A, et al. Substrate reduction therapy in Sandhoff disease: evidence for improvement in nervous function in patients treated with miglustat. J Inherit Metab Dis 2006;29(suppl 1):P10-P12.
22. Goitein O, Elstein D, Abrahamov A, et al. Lung involvement and enzyme replacement therapy in Gaucher's disease. QJM 2001;94:407-415.
23. Miller A, Brown LK, Pastores GM, Desnick RJ. Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease. Clin Genet 2003;63:368-376.
24. Vellodi A, Foo Y, Cole TJ. Evaluation of three biochemical markers in the monitoring of Gaucher disease. J Inherit Metab Dis 2005;28:585-592.
25. Hollak C, Biegstraaten M, van Schaik IN, et al. Prevalence of polyneuropathy in adult type 1 Gaucher disease: a multinational prospective observational study. J Inherit Metab Dis 2007;30(suppl 1):427-P (Abstract).
26. Harris CM, Taylor DS, Vellodi A. Ocular motor abnormalities in Gaucher disease. Neuropediatrics 1999;30:289-293.
27. Accardo AP, Pensiero S, Perissutti P, et al. Saccadic analysis for early identification of neurological involvement in Gaucher disease. Ann NY Acad Sci 2005;1039:503-507.