Gene Therapy in Sanfilippo

Many people have asked us about gene therapy and the research that will be funded with the grant from the Pepsi Refresh Project.  Our friends at Ben's Dream posted this fantastic summary and I thought I would share it with all of you.


The basic principle of gene therapy is to introduce a corrected gene to the body so it is taken up & begins to work properly. In the case of Sanfilippo Syndrome the gene that is involved in specific enzyme production for each type (A, B, etc.) is damaged. The corrected gene is put into a “vector”, or harmless virus, which is introduced to the body. This allows the gene to get into the cells where it can begin to function & produce the missing or broken enzyme. Unlike ERT (enzyme replacement) & drug therapy which requires lifelong dosing, gene therapy is done once – if successful the body takes over & reproduces the corrected gene.

Dr. Fu tested her gene therapy on Sanfilippo Type B mice using a single IV injection. Her research is so significant because the AAV9 vector she used passes through the Blood Brain Barrier & the corrected gene is widely dispersed throughout the entire body. Dr. Fu was not only able to extend the lifespan of the Type B mouse colony, but more importantly showed clearance of the storage caused by Sanfilippo & improvement of cognitive & motor functions.

Based on her results the next step is human clinical trials. It will take $1,200,000 to do the necessary toxicology, trial design, vector production & FDA submission to get there. Ben’s Dream – the Sanfilippo Research Foundation - has already granted Dr. Fu $200.000 to start the process. If won, the Pepsi Refresh grant will provide another $250,000 toward that goal – focused on vector testing & production.

Dr. Fu believes that she can apply the same technique to Type A. A Life for Elisa – the Sanfilippo Children’s Research Foundation - has granted $160,000 to replicate her Type B results on Type A. This money is outside of the dollars needed to bring Dr. Fu's original research to human clinical trial.

Even with the Pepsi Refresh grant we still need $750,000 to get Type B to clinical trial. If we are unsuccessful, it will not be possible to advance A or any other type beyond mouse research. We need to work together to bring Dr. Fu's original research to human clinical trial as soon as possible.


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