International Niemann–Pick Disease Alliance

Development of Gene Therapy for NP-C (UCL)

In the following video (provided courtesy of NPUK) Dr. Ahad A. Rahim: Lecturer in Translational Neuroscience & UCL Excellence Fellow in Neurological Disease Modelling, gives an excellent breakdown of what gene therapy is, and how it holds a lot of promise for the future of NP-C:

“…We are developing gene therapy for Niemann-Pick type C, this has been done in collaboration with our collaborators at the University of Oxford and Fran Platt’s lab. We’ve been working on viral vectors for delivery of genes to the brain for a number of years now – and where we are is that we’ve made a vector that can express the NP-C1 protein and we’ve conducted low dose studies in the mouse model in the Platt lab. 

The mouse model is a really good model of NP-C because it shows all the bi-chemical abnormalities associated with Niemann-Pick C, it shows the behavioural abnormalities associated to Niemann-Pick C, and it shows the premature death you have in Niemann-Pick C, in addition to a neuro-pathological mimicry of what happens in patients. So what we’ve done is we’ve delivered low dose gene therapy to the brains of that mouse model, and we’ve been able to show and extension in life span. Not only that, we were able to show that you can normalise a number of different indices of behaviour following therapy…”

Many thanks to Niemann-Pick UK (NPUK) for the provision of this video. 

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