Gene therapy shows promise for treating Niemann-Pick disease type C1

NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.

Models to study basic and applied aspects of lysosomal storage disorders - ScienceDirect

Frontiers CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges

Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016

IJMS, Free Full-Text

Clinical applications of gene therapy for rare diseases: A review - Papaioannou - 2023 - International Journal of Experimental Pathology - Wiley Online Library

delta – Columbus Children's Foundation

Niemann–Pick Disease Type C: Induced Pluripotent Stem Cell–Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy - Daozhan Yu, Manju Swaroop, Mengqiao Wang, Ulrich Baxa, Rongze Yang, Yiping Yan, Turhan

Niemann-Pick disease type C as a neurovisceral disease. Schematic