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.

Biomolecules, Free Full-Text

Health Tip on New Treatment that Shows Promise in Niemann-Pick Type C Disorder - Health Tips

Like a tunnel for cholesterol': Scientists show how 'bad' cholesterol gets into cells

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

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

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

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

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

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

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

Anti-Niemann Pick C1 Single-Stranded Oligonucleotides with Locked Nucleic Acids Potently Reduce Ebola Virus Infection In Vitro: Molecular Therapy - Nucleic Acids

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1