Early miglustat therapy in infantile Niemann-Pick disease type C
M Di Rocco, A Dardis, A Madeo, R Barone, A Fiumara - Pediatric neurology, 2012 - Elsevier
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 …
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 …
