Document Detail

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series.
MedLine Citation:
PMID:  20056559     Owner:  NLM     Status:  MEDLINE    
Niemann-Pick disease type C (NP-C) is an inherited neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Different clinical forms have been defined based on patient age at onset: perinatal, early-infantile (EI), late-infantile (Li), juvenile and adult. We evaluated the efficacy and tolerability of miglustat in 16 symptomatic NP-C patients, with comparative reference to one neurologically asymptomatic, untreated patient. All patients were categorized according to age at neurological disease onset, and were assessed using a standardized clinical assessment protocol: disability and cognitive function scales, positron emission tomography (PET), and biochemical markers. PET and disability scale evaluations indicated that cerebral hypometabolism and neurological symptoms were stabilized during treatment in juvenile-onset NP-C patients. EI and Li NP-C patients, who had higher disease severity at baseline (treatment start), showed increased disability scores and progressive cerebral hypometabolism during follow up. Similarly, while cognitive scale scores remained relatively stable in patients with juvenile NP-C, cognition deteriorated in EI and Li patients. Plasma chitotriosidase (ChT) activity was lower in the juvenile NP-C subgroup than in EI and Li patients, and generally increased in patients who discontinued treatment. Plasma CCL18/PARC and ChT activities indicated greater macrophagic activity in EI and Li patients versus juveniles. Miglustat was generally well tolerated; frequent adverse events included diarrhea and flatulence, which were managed effectively by dietary modification and loperamide. Overall, miglustat appeared to stabilize neurological status in juvenile-onset NP-C patients, but therapeutic benefits appeared smaller among younger patients who were at a more advanced stage of disease at baseline.
M Pineda; M S Perez-Poyato; M O'Callaghan; M A Vilaseca; M Pocovi; R Domingo; L Ruiz Portal; A Verdú Pérez; T Temudo; A Gaspar; J J Garcia Peñas; S Roldán; L Martín Fumero; O Blanco de la Barca; M T García Silva; J Macías-Vidal; M J Coll
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Publication Detail:
Type:  Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-11-29
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  99     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-03-15     Completed Date:  2010-07-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  358-66     Citation Subset:  IM    
Copyright Information:
Copyright 2009 Elsevier Inc. All rights reserved.
Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
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MeSH Terms
1-Deoxynojirimycin / adverse effects,  analogs & derivatives,  therapeutic use
Age Factors
Child, Preschool
Cognition / drug effects
Nervous System Diseases / drug therapy
Niemann-Pick Disease, Type C / drug therapy*
Reg. No./Substance:
0/miglustat; 19130-96-2/1-Deoxynojirimycin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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