Disease characteristics prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international multicenter retrospective chart review

摘要

BackgroundNiemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder characterized by progressive neurodegenerative symptomatology. The signs and symptoms of NP-C vary with age at disease onset, and available therapies are directed at alleviating symptoms and stabilizing disease progression. We report the characteristics and factors related to disease progression, and analyze the effect of miglustat treatment on disease progression and patient survival using NP-C disability scales.