Efficacy of Miglustat in Niemann-Pick C disease: A single centre experience

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 329-335

  Ginocchio, Virginia Maria ^a   D'Amico, Adele ^a   Bertini, Enrico ^a   Ceravolo, Ferdinando ^a,b   Dardis, Andrea ^c   Verrigni, Daniela ^a   Bembi, Bruno ^c   Dionisi Vici, Carlo ^a   Deodato, Federica ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^c SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

Author keywords

Disability scale; Dysphagia; Epilepsy; Mean annual change; Miglustat; Niemann Pick type C

Indexed keywords

CHITOTRIOSIDASE; MIGLUSTAT;

ABDOMINAL DISTENSION; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; DETERIORATION; DIARRHEA; DISEASE COURSE; DRUG EFFICACY; ENZYME BLOOD LEVEL; EVALUATION; FEMALE; FOLLOW UP; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENETIC SCREENING; HUMAN; JUVENILE; MALE; NIEMANN PICK DISEASE; ONSET AGE; PATIENT COMPLIANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIDE EFFECT; SWALLOWING; TREATMENT DURATION; TREMOR; WEIGHT CHANGE;

BODY SURFACE; BS; COMPOSITE SCORE; CS; DISABILITY SCALE; DYSPHAGIA; ENDOPLASMIC RETICULUM; EPILEPSY; ER; LATE ENDOSOMES/LYSOSOMES; LE/L; MEAN ANNUAL CHANGE; MIGLUSTAT; NIEMANN-PICK DISEASE TYPE C; NIEMANN-PICK TYPE C; NPC;

1-DEOXYNOJIRIMYCIN; ADOLESCENT; ADULT; AGE OF ONSET; ALPHA-GLUCOSIDASES; CHILD; CHILD, PRESCHOOL; DELAYED DIAGNOSIS; DISABLED PERSONS; ENZYME INHIBITORS; FEMALE; HUMANS; MALE; NIEMANN-PICK DISEASE, TYPE C; RETROSPECTIVE STUDIES; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84885435534     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.019     Document Type: Article

References (28)

1. Patterson M.C., Hendriksz C.J., Walterfang M., Sedel F., Vanier M.T., Wijburg F., on behalf of the NP-C Guidelines Working Group Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol. Genet. Metab. 2012, 106:330-344.
2. Wraith J.E., Guffon N., Rohrbach M., Hwud W.L., Korenke G.C., Bembi B., Luzy C., Giorgino R., Sedel F. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol. Genet. Metab. 2009, 98:250-254.
3. Pérez-Poyato M.S., O'Callaghan Gordo M.M., Pineda Marfa M. Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease. Gene 2012, 506:207-210.
4. Patterson M.C., Vecchio D., Prady H., Abel L., Wraith J.E. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007, 6:765-772.
5. Pineda M., Wraith J.E., Mengel E., Sedel F., Hwue W.L., Rohrbach M., Bembi B., Walterfang M., Korenke G.C., Marquardt T., Luzy C., Giorgino R., Patterson M.C. Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol. Genet. Metab. 2009, 98:243-249.
6. Yanjanin N.M., Vélez J.I., Gropman A., King K., Bianconi S.E., Conley S.K., Brewer C.C., Solomon B., Pavan W.J., Arcos-Burgos M., Patterson M.C., Porter F.D. Linear clinical progression, independent of age of onset, in Niemann-Pick Disease, type C. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010, 153B(1):132-140.
7. Patterson M.C., Mengel E., Wijburg F.A., Muller A., Schwierin B., Drevon H., Vanier M.T., Pineda M. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J. Rare Dis. 2013, 8:12.
8. Vanier M.T. Niemann-Pick disease type C. Orphanet J. Rare Dis. 2010, 5:16.
9. Iturriaga C., Pineda M., Fernández-Valero E.M., Vanier M.T., Coll M.J. Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. J. Neurol. Sci. 2006, 249:1-6.
10. Pineda M., Perez-Poyato M.S., O'Callaghan M., Vilaseca M.A., Pocovi M., Domingo R., Ruiz Portal L., Verdú Pérez A., Temudo T., Gaspar A., Garcia Peñas J.J., Roldán S., Martín Fumero L., Blanco de la Barca O., García Silva M.T., Macías-Vidal J., Coll M.J. Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. Mol. Genet. Metab. 2010, 99:358-366.
11. Héron B., Valayannopoulos V., Baruteau J., Chabrol B., Ogier H., Latour P., Dobbelaere D., Eyer D., Labarthe F., Maurey H., Cuisset J.M., Billette de Villemeur T., Sedel F., Vanier M.T. Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J. Rare Dis. 2012, 7:36.
12. Patterson M.C., Vecchio D., Jacklin E., Abel L., Chadha-Boreham H., Luzy C., Giorgino R., Wraith J.E. Long-term miglustat therapy in children with Niemann-Pick disease type C. J. Child Neurol. 2010, 25:300.
13. Vanier M.T., Rodriguez-Lafrasse C., Rousson R., Gazzah N., Juge M.C., Pentchev P.G., Revol A., Louisot P. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim. Biophys. Acta 1991, 1096(4):328-337.
14. Centonze A., Mazzei A., Castaldo P., Raiola G., Salerno D., Prosperi Porta I., Baldassarre E. Atypical presentation of a wandering spleen in Niemann-Pick disease. J. Emerg. Med. Apr 2013, 44(4):851-852.
15. Wraith J.E., Vecchio D., Jacklin E., Abel L., Chadha-Boreham H., Luzy C., Giorgino R., Patterson M.C. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol. Genet. Metab. 2010, 99:351-357.
16. Fecarotta S., Amitrano M., Romano A., Della Casa R., Bruschini D., Astarita L., Parenti G., Andria G. The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat. Am. J. Med. Genet. A 2011, 155A(3):540-547.
17. Chien Y.H., Peng S.F., Yang C.C., Lee N.C., Tsai L.K., Huang A.C., Su S.C., Tseng C.C., Hwu W.L. Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C. J. Inherit. Metab. Dis. 2013, 36(1):129-137.
18. Walterfang M., Chien Y.H., Imrie J., Rushton D., Schubiger D., Patterson M.C. Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J. Rare Dis. 2012, 7:76.
19. Cox T.M., Aerts J.M.F.G., Belmatoug N., Cappellini M.D., vom Dahl S., Goldblatt J., Grabowski G.A., Hollak C.E.M., Hwu P., Maas M., Martins A.M., Mistry P.K., Pastores G.M., Tylki-Szymanska A., Yee J., Weinreb N. Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J. Inherit. Metab. Dis. 2008, 31:319-336.
20. Di Rocco M., Dardis A., Madeo A., Barone R., Fiumara A. Early miglustat therapy in infantile Niemann-Pick disease type C. Pediatr. Neurol. 2012, 47(1):40-43.
21. Peake K.B., Vance J.E. Defective cholesterol trafficking in Niemann-Pick C-deficient cells. FEBS Lett. Jul 2 2010, 584(13):2731-2739.
22. Zervas M., Somers K.L., Thrall M.A., Walkley S.U. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr. Biol. Aug 21 2001, 11(16):1283-1287.
23. Lachmann R.H., te Vruchte D., Lloyd-Evans E., Reinkensmeier G., Sillence D.J., Fernandez-Guillen L., Dwek R.A., Butters T.D., Cox T.M., Platt F.M. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol. Dis. Aug 2004, 16(3):654-658.
24. Nietupski J.B., Pacheco J.J., Chuang W.L., Maratea K., Li L., Foley J., Ashe K.M., Cooper C.G., Aerts J.M., Copeland D.P., Scheule R.K., Cheng S.H., Marshall J. Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice. Mol. Genet. Metab. Apr 2012, 105(4):621-628.
25. Stein V.M., Crooks A., Ding W., Prociuk M., O'Donnell P., Bryan C., Sikora T., Dingemanse J., Vanier M.T., Walkley S.U., Vite C.H. Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C. J. Neuropathol. Exp. Neurol. May 2012, 71(5):434-448.
26. Cologna S.M., Cluzeau C.V., Yanjanin N.M., Blank P.S., Dail M.K., Siebel S., Toth C.L., Wassif C.A., Lieberman A.P., Porter F.D. Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. J. Inherit. Metab. Dis. May 8 2013, (Epub ahead of print, in press).
27. Mattsson N., Zetterberg H., Bianconi S., Yanjanin N.M., Fu R., Månsson J.E., Porter F.D., Blennow K. Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C. JIMD Rep. 2012, 3:45-52.
28. Ribas G.S., Pires R., Coelho J.C., Rodrigues D., Mescka C.P., Vanzin C.S., Biancini G.B., Negretto G., Wayhs C.A., Wajner M., Vargas C.R. Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy. Int. J. Dev. Neurosci. Oct 2012, 30(6):439-444.