Early miglustat therapy in infantile Niemann-Pick disease type C

Maja Di Rocco, Andrea Dardis, Annalisa Madeo, Rita Barone, Agata Fiumara

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Niemann-Pick disease type C is a rare inherited cholesterol trafficking disorder, where impaired intracellular lipid transport leads to storage of unesterified cholesterol and glycosphingolipids in many tissues, including the brain. Substrate reduction therapy with miglustat, an iminosugar that inhibits glycosphingolipid synthesis, was proposed to treat Niemann-Pick disease type C, based on evidence of slower disease progression and prolonged survival in animal models. Miglustat was subsequently approved in Europe to treat progressive neurologic manifestations in both children and adults in early 2009, based on clinical study data. We report on the early treatment of two pediatric Niemann-Pick type C patients with miglustat. Patient 1, a 7.5-year-old girl with early-infantile onset, began receiving miglustat at age 7 months. Patient 2, the brother of a girl diagnosed with late-infantile onset Niemann-Pick type C, began receiving miglustat at age 19 months, when he was asymptomatic for neurologic disease. After 7 and 5 years of miglustat therapy, respectively, both patients remain free of neurologic manifestations. These findings suggest that miglustat may be more effective if used to prevent, rather than treat, neurologic manifestations in infantile-onset Niemann-Pick type C.

Original languageEnglish
Pages (from-to)40-43
Number of pages4
JournalPediatric Neurology
Volume47
Issue number1
DOIs
Publication statusPublished - Jul 2012

Fingerprint

Type C Niemann-Pick Disease
Secondary Prevention
Neurologic Manifestations
Glycosphingolipids
Cholesterol
Asymptomatic Diseases
miglustat
Nervous System Diseases
Disease Progression
Siblings
Therapeutics
Animal Models
Pediatrics
Lipids
Survival
Brain

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Early miglustat therapy in infantile Niemann-Pick disease type C. / Di Rocco, Maja; Dardis, Andrea; Madeo, Annalisa; Barone, Rita; Fiumara, Agata.

In: Pediatric Neurology, Vol. 47, No. 1, 07.2012, p. 40-43.

Research output: Contribution to journalArticle

Di Rocco, Maja ; Dardis, Andrea ; Madeo, Annalisa ; Barone, Rita ; Fiumara, Agata. / Early miglustat therapy in infantile Niemann-Pick disease type C. In: Pediatric Neurology. 2012 ; Vol. 47, No. 1. pp. 40-43.
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