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.

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

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

PDF) A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

Central nervous system-targeted adeno-associated virus gene therapy in methylmalonic acidemia: Molecular Therapy - Methods & Clinical Development

Frontiers Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord

Miglustat improves swallowing in children and adolescents with Niemann-Pick type C1 disease

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

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

Investigation of 2-Hydroxypropyl-β-Cyclodextrin Treatment in a Neuronal-Like Cell Model of Niemann–Pick Type C Using Quantitative Proteomics

mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts

PDF) Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1

The complexity of a monogenic neurodegenerative disease: More than two decades of therapeutic driven research into Niemann-Pick type C disease - ScienceDirect