New agents and approaches to treatment in niemann-pick type C disease

Current Pharmaceutical Biotechnology

Volumn 12, Issue 6, 2011, Pages 897-901

  Pérez Poyato, María S ^a   Pineda, Mercé ^a,b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Ciclodextrins; Curcumine; Miglustat; Neurosteroids; Niemann pick disease type C; Therapeutic approaches

Indexed keywords

2 HYDROXYPROPYL BETA CYCLODEXTRIN; 3ALPHA HYDROXY 5ALPHA PREGNAN 20 ONE; CHOLESTEROL; COLESTYRAMINE; CURCUMIN; CYCLODEXTRIN; DIMETHYL SULFOXIDE; HYPOCHOLESTEROLEMIC AGENT; IMATINIB; MEVINOLIN; MIGLUSTAT; N (2,2,2 TRIFLUOROETHYL) N [4 [2,2,2 TRIFLUORO 1 HYDROXY 1 (TRIFLUOROMETHOXY)ETHYL]PHENYL]BENZENESULFONAMIDE; NEUROSTEROID; NICOTINIC ACID; NIFEDIPINE; PROBUCOL; STEROL;

ARTICLE; CELL FUNCTION; DIET THERAPY; HUMAN; LIPID LIVER LEVEL; NIEMANN PICK DISEASE; NONHUMAN; STEM CELL TRANSPLANTATION; SURVIVAL;

AGE FACTORS; ANIMALS; CHOLESTEROL; HUMANS; MOLECULAR TARGETED THERAPY; MUTATION; NIEMANN-PICK DISEASE, TYPE C;

ANIMALIA;

EID: 79956286125     PISSN: 13892010     EISSN: 18734316     Source Type: Journal    
DOI: 10.2174/138920111795542697     Document Type: Article

References (32)

1. Vanier, M. T.; Millat, G. Niemann-Pick disease type C. Clin. Genet, 2003, 64, 269-281.
2. Millat, G.; Chikh, K.; Naureckiene, S.; Sleat, D. E.; Fensom, A. H.; Higaki, K.; Elleder, M.; Lobel, P.; Vanier, M. T. Niemann-Pickdisease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am. J. Hum.Genet., 2001, 69, 1013-1021.
3. Thomas, G. H.; Tuck-Muller, C. M.; Miller, C. S.; Reynolds, L. W. Correction of sphingomyelinase deficiency in Niemann-Pick typeC fibroblasts by removal of lipoprotein fraction from culture media.J. Inherit. Metab. Dis., 1989, 12, 139-151.
4. Patterson, M. C.; Varnier, M.T.; Suzuki, K.; Morris, J.A.; Carstea, E.; Neufeld, E.B.; Blanchette-Mackie, J.E.; Pentchev, P.G.; Niemann- Pick Disease Type C: A lipid trafficking disorder. In: TheMetabolic & Molecular bases of Inherited disease, 8th Ed., Scriver,C.R.; Beaudet, A. L.; Sly, W.S.; Valle D.; Eds., Mc Graw-Hill:New York, 2001, Vol 3, pp. 3611-3633.
5. Patterson, M. C. A riddle wrapped in a mystery: understandingNiemann-Pick disease, type C. Neurologist, 2003, 9, 301-310.
6. J. E. Lipid imbalance in the neurological disorder, Niemann-Pick C disease. FEBS Lett., 2006, 580, 5518-5524.
7. NP-C Guidelines Working Group; Wraith, J. E.; Baumgartner, M.R.; Bembi, B.; Covanis, A.; Levade, T.; Mengel, E.; Pineda, M.; Sedel, F.; Topcu, M.; Vanier, M. T.; Widner, H.; Wijburg, F. A.; Patterson, M. C. Recommendations on the diagnosis and managementof Niemann-Pick disease type C. Mol. Genet. Metab., 2009,98, 152-165.
8. Iturriaga, C.; Pineda, M.; Fernandez-Valero, E. M.; Vanier, M. T.; Coll, M. J. Niemann-Pick C disease in Spain: clinical spectrum anddevelopment of a disability scale. J. Neurol. Sci., 2006, 249, 1-6.
9. Patterson, M. C.; Platt, F. Therapy of Niemann-Pick disease, type C. Biochim. Biophys. Acta, 2004, 1685, 77-82.
10. Wraith, J. E.; Imrie, J. New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat Ther. Clin. Risk Manage., 2009, 5, 877-887.
11. Mellon, S. H.; Gong, W.; Schonemann, M. D. Endogenous andsynthetic neurosteroids in treatment of Niemann-Pick Type C disease.Brain Res. Rev., 2008, 57, 410-420.
12. Lloyd-Evans, E.; Morgan, A. J.; He, X.; Smith, D. A.; Elliot-Smith, E.; Sillence, D. J.; Churchill, G. C.; Schuchman, E. H.; Galione, A.; Platt, F. M. Niemann-Pick disease type C1 is a sphingosine storagedisease that causes deregulation of lysosomal calcium. Nat. Med.,2008, 14, 1247-1255.
13. Patterson, M. C.; Di Bisceglie, A. M.; Higgins, J. J.; Abel, R. B.; Schiffmann, R.; Parker, C. C.; Argoff, C. E.; Grewal, R. P.; Yu, K.; Pentchev, P. G. The effect of cholesterol-lowering agents on hepaticand plasma cholesterol in Niemann-Pick disease type C. Neurology,1993, 43, 61-64.
14. Erickson, R. P.; Garver, W. S.; Camargo, F.; Hossain, G. S.; Heidenreich, R. A. Pharmacological and genetic modifications of somaticcholesterol do not substantially alter the course of CNS diseasein Niemann-Pick C mice. J. Inherit. Metab. Dis., 2000, 23, 54-62.
15. Camargo, F.; Erickson, R. P.; Garver, W. S.; Hossain, G. S.; Carbone, P. N.; Heidenreich, R. A.; Blanchard, J. Cyclodextrins in thetreatment of a mouse model of Niemann-Pick C. Disease. Life Sci.,2001, 70, 131-142.
16. Liu, B.; Li, H.; Repa, J. J.; Turley, S. D.; Dietschy, J. M. Geneticvariations and treatments that affect the lifespan of the NPC 1mouse. J. Lipid Res., 2008, 49, 663-669.
17. Davidson, C. D.; Ali, N. F.; Micsenyi, M. C.; Stephney, G.; Renault, S.; Dobrenis, K.; Ory, D. S.; Vanier, M. T.; Walkley, S. U. Chronic cyclodextrin treatment of murine Niemann-Pick C diseaseameliorates neuronal cholesterol and glycosphingolipid storage anddisease progression. PLoS ONE, 2009, 4, e6951.
18. Langmade, S. J.; Gale, S. E.; Frolov, A.; Mohri, I.; Suzuki, K.; Mellon, S. H.; Walkley, S. U.; Covey, D. F.; Schaffer, J. E.; Ory, D. S. Pregnane X receptor (PXR) activation: a mechanism for neuroprotectionin a mouse model of Niemann-Pick C disease. Proc.Natl. Acad. Sci. USA, 2006, 103, 13807-13812.
19. Mellon, S.; Gong, W.; Griffin, L. D. Niemann pick type C diseaseas a model for defects in neurosteroidogenesis. Endocr. Res., 2004,30, 727-735.
20. Liao, G.; Cheung, S.; Galeano, J.; Ji, A. X.; Qin, Q.; Bi, X. Allopregnanolonetreatment delays cholesterol accumulation and reducesautophagic/lysosomal dysfunction and inflammation in Npc1 -/- mouse brain. Brain Res., 2009, 1270, 140-151.
21. Butters, T. D.; Dwek, R. A.; Platt, F. M. Inhibition of glycosphingolipidbiosynthesis: application to lysosomal storage disorders.Chem. Rev., 2000, 100, 4683-4696.
22. Zervas, M.; Somers, K. L.; Thrall, M. A.; Walkley, S. U. Criticalrole for glycosphingolipids in Niemann-Pick disease type C. Curr.Biol., 2001, 11, 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 thelipid-trafficking defect in Niemann-Pick disease type C. Neurobiol.Dis., 2004, 16, 654-658.
24. Patterson, M. C.; Vecchio, D.; Prady, H.; Abel, L.; Wraith, J. E. Miglustat for treatment of Niemann-Pick C disease: a randomisedcontrolled study. Lancet Neurol., 2007, 6, 765-772.
25. Galanaud, D.; Tourbah, A.; Lehericy, S.; Leveque, N.; Heron, B.; Billette de Villemeur, T.; Guffon, N.; Feillet, F.; Baumann, N.; Vanier, M. T.; Sedel, F. 24 month-treatment with miglustat of threepatients with Niemann-Pick disease type C: follow up using brainspectroscopy. Mol. Genet Metab., 2009, 96, 55-58.
26. Pineda, M.; Wraith, J. E.; Mengel, E.; Sedel, F.; Hwu, W. L.; Rohrbach, M.; Bembi, B.; Walterfang, M.; Korenke, G. C.; Marquardt, T.; Luzy, C.; Giorgino, R.; Patterson, M. C. Miglustat in patientswith Niemann-Pick disease Type C (NP-C): a multicenterobservational retrospective cohort study. Mol. Genet. Metab., 2009,98, 243-249.
27. Chien, Y. H.; Lee, N. C.; Tsai, L. K.; Huang, A. C.; Peng, S. F.; Chen, S. J.; Hwu, W. L. Treatment of Niemann-Pick disease type Cin two children with miglustat: initial responses and maintenance ofeffects over 1 year. J. Inherit. Metab. Dis., 2007, 30, 826.
28. Santos, M. L.; Raskin, S.; Telles, D. S.; Lohr Junior, A.; Liberalesso, P. B.; Vieira, S. C.; Cordeiro, M. L. Treatment of a child diagnosedwith Niemann-Pick disease type C with miglustat: A case reportin Brazil. J. Inherit. Metab. Dis., 2008, [Epub ahead of Print].
29. Patterson, M. C.; Vecchio, D.; Jacklin, E.; Abel, L.; Chadha-Boreham, H.; Luzy, C.; Giorgino, R.; Wraith, J. E. Long-termmiglustat therapy in children with Niemann-Pick disease type C. J.Child Neurol., 2010, 25, 300-305.
30. Pineda, M.; Perez-Poyato, M. S.; O'Callaghan, M.; Vilaseca, M. A.; Pocovi, M.; Domingo, R.; Portal, L. R.; Perez, A. V.; Temudo, T.; Gaspar, A.; Penas, J. J.; Roldan, S.; Fumero, L. M.; de la Barca, O.B.; Silva, M. T.; Macias-Vidal, J.; Coll, M. J. Clinical experiencewith miglustat therapy in pediatric patients with Niemann-Pick diseasetype C: a case series. Mol. Genet Metab., 2010, 99, 358-366.
31. Alvarez, A. R.; Klein, A.; Castro, J.; Cancino, G. I.; Amigo, J.; Mosqueira, M.; Vargas, L. M.; Yevenes, L. F.; Bronfman, F. C.; Zanlungo, S. Imatinib therapy blocks cerebellar apoptosis and improvesneurological symptoms in a mouse model of Niemann-Picktype C disease. FASEB J., 2008, 22, 3617-3627.
32. Ahmad, I.; Hunter, R. E.; Flax, J. D.; Snyder, E. Y.; Erickson, R. P. Neural stem cell implantation extends life in Niemann-Pick C1mice. J. Appl. Genet., 2007, 48, 269-272.