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.

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

IJMS, Free Full-Text

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

Niemann Pick Disease Type C News, Research

delta – Columbus Children's Foundation

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

Family races to raise money for research no one will fund - The Boston Globe

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS - The Lancet Child & Adolescent Health

Niemann–Pick Disease Type C

Heat shock protein amplification improves cerebellar myelination in the Npc1nih mouse model - eBioMedicine

Niemann–Pick disease type C1 (NPC1) lysosomal lipid storage disease

A Potential New Treatment for Niemann-Pick Disease – ASHG 2016