Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series

Journal of Child Neurology

Volumn 28, Issue 12, 2013, Pages 1599-1606

  Karimzadeh, Parvaneh ^a   Tonekaboni, Seyed Hassan ^a   Ashrafi, Mahmoud Reza ^b   Shafeghati, Yousef ^c   Rezayi, Alireza ^a   Salehpour, Shadab ^d   Ghofrani, Mohammad ^a   Taghdiri, Mohammad Mehdi ^a   Rahmanifar, Ali ^e   Zaman, Talieh ^b   Aryani, Omid ^f   Shoar, Babak Najaf ^g   Shiva, Farideh ^d   Tavasoli, Alireza ^b   Houshmand, Massoud ^h  

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c Sarem Women's Hospital   (Iran)

^d SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e Persian General Hospital   (Iran)

^f Special Medical Center Iran   (Iran)

^g Actelion Pharmaceuticals   (Iran)

^h NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

Author keywords

efficacy; miglustat; Niemann Pick disease type C

Indexed keywords

MIGLUSTAT; 1 DEOXYNOJIRIMYCIN; ENZYME INHIBITOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DRUG EFFECT; DRUG TOLERABILITY; DYSARTHRIA; DYSPHAGIA; EYE MOVEMENT; FEMALE; FOLLOW UP; GAZE PARALYSIS; HEARING; HUMAN; INFANT; IRAN; MALE; MOBILIZATION; MOTOR PERFORMANCE; NEUROIMAGING; NIEMANN PICK DISEASE; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD; SEIZURE; SPEECH; SWALLOWING; TREATMENT DURATION; ANALOGS AND DERIVATIVES; COMPLICATION; NERVOUS SYSTEM DISEASES; NIEMANN-PICK DISEASE, TYPE C; RETROSPECTIVE STUDY; TREATMENT OUTCOME; YOUNG ADULT;

1-DEOXYNOJIRIMYCIN; ADOLESCENT; CHILD; CHILD, PRESCHOOL; ENZYME INHIBITORS; FEMALE; HUMANS; INFANT; IRAN; MALE; NERVOUS SYSTEM DISEASES; NIEMANN-PICK DISEASE, TYPE C; RETROSPECTIVE STUDIES; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84887975419     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812464526     Document Type: Article

References (27)

1. Vanier MT, Duthel S, Rodriguez-Lafrasse C, et al. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet. 1996 ; 58 (1). 118-125
2. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010 ; 5: 16
3. Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999 ; 281 (3). 249-254
4. Patterson MC, Hendriksz CJ, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 ; 106 (3). 330-344
5. Imrie J, Dasgupta S, Besley GT, et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis. 2007 ; 30 (1). 51-59
6. Iturriaga C, Pineda M, Fernandez-Valero EM, et al. Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci. 2006 ; 249 (1). 1-6
7. Kelly DA, Portmann B, Mowat AP, et al. Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr. 1993 ; 123 (2). 242-247
8. Imrie J, Wraith JE. Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C. Arch Dis Child. 2001 ; 84 (5). 427-429
9. Wraith JE, Baumgartner MR, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009 ; 98 (1-2). 152-165
10. Klarner B, Klunemann HH, Lurding R, et al. Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations. J Inherit Metab Dis. 2007 ; 30 (1). 60-67
11. Walterfang M, Fietz M, Fahey M, et al. The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci. 2006 ; 18 (2). 158-170
12. Garver WS, Francis GA, Jelinek D, et al. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am J Med Genet A. 2007 ; 143 (11). 1204-1211
13. Wraith JE, Guffon N, Rohrbach M, et al. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab. 2009 ; 98 (3). 250-254
14. Wijburg FA, Sedel F, Pineda M, et al. Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology. 2012 ; 78 (20). 1560-1567
15. Patterson MC, Vecchio D, Prady H, et al. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007 ; 6 (9). 765-772
16. Patterson MC, Vecchio D, Jacklin E, et al. Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol. 2010 ; 25 (3). 300-305
17. Wraith JE, Vecchio D, Jacklin E, et al. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab. 2010 ; 99 (4). 351-357
18. Pineda M, Wraith JE, Mengel E, et al. Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab. 2009 ; 98 (3). 243-249
19. Actelion. Miglustat (Zavesca) summary of product characteristics; 2010. Available at: http://eudrapharm.eu/eudrapharm/showDocument?documentId= 299255761182430949. Accessed July 4, 2011.
20. Heron B, Valayannopoulos V, Baruteau J, et al. Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis. 2012 ; 7 (1). 36
21. Pineda M, Perez-Poyato MS, O'Callaghan M, et al. Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. Mol Genet Metab. 2010 ; 99 (4). 358-366
22. Chien YH, Lee NC, Tsai LK, et al. Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. J Inherit Metab Dis. 2007 ; 30 (5). 826
23. Chien YH, Peng SF, Yang CC, et al. Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C [published online ahead of print April 5, 2012]. J Inherit Metab Dis. :
24. Santos ML, Raskin S, Telles DS, et al. Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil. J Inherit Metab Dis. 2008 ; 31 (suppl 2). S357 - S361
25. Belmatoug N, Burlina A, Giraldo P, et al. Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis. 2011 ; 34 (5). 991-1001
26. Hollak CE, Hughes D, van Schaik IN, et al. Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme. Pharmacoepidemiol Drug Saf. 2009 ; 18 (9). 770-777
27. Champion H, Ramaswami U, Imrie J, et al. Dietary modifications in patients receiving miglustat [published online ahead of print September 16, 2010]. J Inherit Metab Dis. :