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: Causes, symptoms, treatment, and more

Real-time MR tracking of AAV gene therapy with βgal-responsive MR probe in a murine model of GM1-gangliosidosis: Molecular Therapy - Methods & Clinical Development

Biomolecules, Free Full-Text

Niemann Pick Disease Type C News, Research

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

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

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

Liposomal formulations for treating lysosomal storage disorders - ScienceDirect

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

Frontiers Emerging Concepts in Vector Development for Glial Gene Therapy: Implications for Leukodystrophies

Niemann-Pick Disease Type C Gene Therapy Gets Rare Pediatric Disease Designation

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