Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: A randomized, double-blind, placebo-controlled study

Journal of Pediatrics

Volumn 159, Issue 5, 2011, Pages 838-844.e1

  Guffon, Nathalie ^a   Bin Dorel, Sylvie ^a,b,c   Decullier, Evelyne ^a,b,c   Paillet, Carole ^d   Guitton, Jérôme ^e   Fouilhoux, Alain ^a  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ DE LYON   (France)

^c UNIVERSITÉ DE LYON   (France)

^d EDOUARD HERRIOT HOSPITAL   (France)

^e CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

Batterie d'Evaluation Cognitive et Sociale; BECS; BMP; Borel Maisonny Petit test; Cerebrospinal fluid; CSF; MPS III; Mucopolysaccharidosis type III

Indexed keywords

GANGLIOSIDE; MIGLUSTAT; PLACEBO;

ARTICLE; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; COGNITION; CONTROLLED STUDY; DIARRHEA; DISEASE SEVERITY; DOUBLE BLIND PROCEDURE; DRUG BLOOD LEVEL; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; FATIGUE; FEMALE; FEVER; FOLLOW UP; GASTROINTESTINAL SYMPTOM; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PAIN; PHASE 2 CLINICAL TRIAL; PHASE 3 CLINICAL TRIAL; PRESCHOOL CHILD; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; SANFILIPPO SYNDROME; SCHOOL CHILD; SLEEP DISORDER; TREATMENT OUTCOME; UNSPECIFIED SIDE EFFECT;

EID: 80054761334     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.04.040     Document Type: Article

References (34)

1. M.J. Valstar, G.J. Ruijter, O.P. van Diggelen, B.J. Poorthuis, and F.A. Wijburg Sanfilippo syndrome: a mini-review J Inherit Metab Dis 31 2008 240 252
2. J. Nelson Incidence of the mucopolysaccharidoses in Northern Ireland Hum Genet 101 1997 355 358 (Pubitemid 28197533)
3. B.J. Poorthuis, R.A. Wevers, W.J. Kleijer, J.E. Groener, J.G. de Jong, and S. van Weely The frequency of lysosomal storage diseases in The Netherlands Hum Genet 105 1999 151 156 (Pubitemid 29396979)
4. M.A. Cleary, and J.E. Wraith Management of mucopolysaccharidosis type III Arch Dis Child 69 1993 403 406 (Pubitemid 23291335)
5. J. Fraser, A.A. Gason, J.E. Wraith, and M.B. Delatycki Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study Arch Dis Child 90 2005 1239 1242 (Pubitemid 41736308)
6. M.C. Bax, and G.A. Colville Behaviour in mucopolysaccharide disorders Arch Dis Child 73 1995 77 81
7. G.A. Colville, J.P. Watters, W. Yule, and M. Bax Sleep problems in children with Sanfilippo syndrome Dev Med Child Neurol 38 1996 538 544 (Pubitemid 26225955)
8. A. Meyer, K. Kossow, A. Gal, C. Muhlhausen, K. Ullrich, and T. Braulke Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A) Pediatrics 120 2007 e1255 e1261
9. G.J. Ruijter, M.J. Valstar, J.M. van de Kamp, R.M. van der Helm, S. Durand, and O.P. van Diggelen Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands Mol Genet Metab 93 2008 104 111
10. V.K. Prasad, and J. Kurtzberg Transplant outcomes in mucopolysaccharidoses Semin Hematol 47 2010 59 69
11. J. Muenzer, J.E. Wraith, and L.A. Clarke Mucopolysaccharidosis I: management and treatment guidelines Pediatrics 123 2009 19 29
12. M. Beck Therapy for lysosomal storage disorders IUBMB Life 62 2010 33 40
13. M.Z. Jones, J. Alroy, J.C. Rutledge, J.W. Taylor, E.C. Alvord Jr., and J. Toone Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristics J Neuropathol Exp Neurol 56 1997 1158 1167 (Pubitemid 27430478)
14. A. Cressant, N. Desmaris, L. Verot, T. Brejot, R. Froissart, and M.T. Vanier Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum J Neurosci 24 2004 10229 10239 (Pubitemid 39492050)
15. D. Elstein, C. Hollak, J.M. Aerts, S. van Weely, M. Maas, and T.M. Cox Sustained therapeutic effects of oral miglustat (Zavesca, N- butyldeoxynojirimycin, OGT 918) in type I Gaucher disease J Inherit Metab Dis 27 2004 757 766 (Pubitemid 39433603)
16. F.M. Platt, G.R. Neises, R.A. Dwek, and T.D. Butters N- butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis J Biol Chem 269 1994 8362 8365
17. A. Treiber, O. Morand, and M. Clozel The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat Xenobiotica 37 2007 298 314 (Pubitemid 46439676)
18. R. Schiffmann, E.J. Fitzgibbon, C. Harris, C. DeVile, E.H. Davies, and L. Abel Randomized, controlled trial of miglustat in Gaucher's disease type 3 Ann Neurol 64 2008 514 522
19. M. Pineda, J.E. Wraith, E. Mengel, F. Sedel, W.L. Hwu, and M. Rohrbach Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study Mol Genet Metab 98 2009 243 249
20. M.C. Patterson, D. Vecchio, H. Prady, L. Abel, and J.E. Wraith Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study Lancet Neurol 6 2007 765 772 (Pubitemid 47238662)
21. B.E. Shapiro, G.M. Pastores, J. Gianutsos, C. Luzy, and E.H. Kolodny Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment Genet Med 11 2009 425 433
22. G.H. Maegawa, P.L. van Giersbergen, S. Yang, B. Banwell, C.P. Morgan, and J. Dingemanse Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis Mol Genet Metab 97 2009 284 291
23. J.E. Wraith, D. Vecchio, E. Jacklin, L. Abel, H. Chadha-Boreham, and C. Luzy Miglustat in adult and juvenile patients with Niemann-Pick disease type C: Long-term data from a clinical trial Mol Genet Metab 99 2010 351 357
24. M.C. Patterson, D. Vecchio, E. Jacklin, L. Abel, H. Chadha-Boreham, and C. Luzy Long-term miglustat therapy in children with Niemann-Pick disease type C J Child Neurol 25 2010 300 305
25. E. Fombonne, S. Achard, and R. Tuffreau L'évaluation du comportement adaptatif: l'échelle de Vineland Handicaps et inadaptations 67-68 1995 79 90
26. Sparrow SS, Balla DA, Cicchetti DV. Vineland Adaptive Behavior Scales (Survey Form). American Guidance Service Circle Pines, MN; 1984.
27. C. Conners A teacher rating scale for use in drug studies with children Am J Psychiatry 126 1969 884 888
28. S. Borel-Maisonny Langage oral et écrit T2: épreuves sensorielles et tests de langage, appréciation de l'état du langage 8 ed. 1997 Delachaux et Niestlé
29. J. Adrien Batterie d'évaluation cognitive et socio- émotionnelle: Pratiques psychologiques et recherches cliniques auprs d'enfants atteints de TED 2008 De Boeck Paris
30. P. Davidsson, P. Fredman, J.E. Mansson, and L. Svennerholm Determination of gangliosides and sulfatide in human cerebrospinal fluid with a microimmunoaffinity technique Clin Chim Acta 197 1991 105 115
31. J. Guitton, S. Coste, N. Guffon-Fouilhoux, S. Cohen, M. Manchon, and M. Guillaumont Rapid quantification of miglustat in human plasma and cerebrospinal fluid by liquid chromatography coupled with tandem mass spectrometry J Chromatogr B Analyt Technol Biomed Life Sci 877 2009 149 154
32. G. O'Bannon Nursing pharmacology and therapeutics 1988 Appleton & Lange Norwalk, CT
33. C. Ficicioglu Review of miglustat for clinical management in Gaucher disease type 1 Ther Clin Risk Manag 4 2008 425 431 (Pubitemid 351712001)
34. C.E. Hollak, D. Hughes, I.N. van Schaik, B. Schwierin, and B. Bembi Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme Pharmacoepidemiol Drug Saf 18 2009 770 777