Miglustat (Zavesca®, Brazaves®), a small iminosugar molecule that reversibly inhibits
glycosphingolipid synthesis, is the only disease-specific
drug approved for the treatment of progressive
neurological manifestations of
Niemann-Pick disease type C (NP-C) in adult and paediatric patients. NP-C is a rare, autosomal-recessive
lipid storage disorder characterized by impaired intracellular
lipid trafficking and progressive neurological symptoms leading to premature death. In a randomized clinical trial, long-term extension studies and a retrospective observational cohort study, treatment with oral
miglustat stabilized key
neurological manifestations of NP-C (including horizontal saccadic eye movement peak velocity, ambulation, manipulation, language and swallowing) in paediatric and adult patients with the disease. The
therapeutic effects of
miglustat in stabilizing or slowing
disease progression have been confirmed in other reports in the clinical experience setting. The primary tolerability issues associated with
miglustat are mild to moderate gastrointestinal effects (e.g. diarrhoea,
flatulence and
abdominal pain/discomfort) and
weight loss, which usually occur during initial
therapy and are generally manageable. In the absence of a cure,
miglustat is a valuable agent to reduce the progression of clinically relevant neurological symptoms in paediatric and adult patients with NP-C, which is considered a significant achievement in the treatment of this disease.