TRIALS: A Fight for Children with Niemann-Pick Type C, a Fatal Genetic Disease

Children with Niemann-Pick Type C (NPC), their parents and scientists seeking a treatment for this fatal genetic disease. WSJ follows this 6-year fight.

Valley family fights for drug to save sick child

Topic · Rare disease ·

IJMS, Free Full-Text

Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment - Mengel - 2021 - Journal of Inherited

Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1 - ScienceDirect

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

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

Valley boy battling rare disease getting stronger

Why Awareness Days Matter to Me as a Parent of a Kid With a Rare Disease

Twins with rare, fatal disease at center of multimillion-dollar lawsuit

Genes, Free Full-Text

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

For a Rare Disease, Drug Trials Scramble for Patients - WSJ

We know it works': Families, doctor fight move to discontinue medication

Parents of twins with 'children's Alzheimer's' find hope in sugar compound therapy