Animal study demonstrates improved Purkinje cell survival, motor coordination, and extended survival in NPC1-null mice, highlighting the promise of systemic AAV9 gene therapy for NPC disease.
Niemann-Pick type C (NPC) disease is a fatal inherited neurodegenerative disorder caused by loss-of-function mutations in the NPC1 or NPC2 gene. There is no effective way to treat NPC disease. In this study, we used adeno-associated virus (AAV) serotype 9 (AAV9) to deliver a functional NPC1 gene systemically into NPC1-/- mice at postnatal day 4. One single AAV9-NPC1 injection resulted in robust NPC1 expression in various tissues, including brain, heart, and lung. Strikingly, AAV9-mediated NPC1 delivery significantly promoted Purkinje cell survival, restored locomotor activity and coordination, and increased the lifespan of NPC1-/- mice. Our work suggests that AAV-based gene therapy is a promising means to treat NPC disease.
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Xie et al. (2017) studied this question.
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