Since Sophie was diagnosed in 2009, there have been major steps taken in helping to find ways to delay and even cure MPS and Sanfilippo Syndrome. Certain types of MPS research have made significant progress, but Sanfilippo remains one of the most difficult variants because of the impact on the brain. However, recent cutting edge developments in medical research are being pursued in only a few research facilities around the world and they are largely funded by donors such as the Sanfillipo Childrens Research Foundation that Strides for Sophie raises money for.

Promising opportunities worldwide include:

Nationwide Children’s Research Hospital, Columbus Ohio- Dr. Fu and Dr. McCarty

Dr. Fu’s research has focused on gene therapy in mice and has been found to both increase lifespan and improve behaviour, though it will not necessarily cure the disease. However, Dr. Fu’s research into delivering therapeutic reagents (such as gene delivery vectors or enzymes) into the central nervous systems have shown great promise. It allows the delivery of therapeutic materials to bypass the blood brain barrier to directly enter the central nervous system. The next step is applying the results of these tests from animals to humans.

Preclinical studies are being conducted in late 2013 and 2014 to study Sanfilippo’s progression and to establish benchmarks that can be used to test the effectiveness of Dr. Fu’s promising gene therapy. The studies establish biomarkers in volunteers, and these will be compared before, during and after testing. These include cerebro-spinal fluid, urine and by conducting an MRI of the brain.

The goal is to treat the long-term cause, or more specifically, to treat the gene defect that causes the excess ‘waste’ to flow through the bloodstream. This will be done by creating a ‘vector’ that can cross the blood-brain barrier to replace the missing enzyme. In mouse models, this was find to replace missing enzyme activity and correct the excess lysosomal storage.

After the natural history study is complete, the plan is to begin gene transfer treatment in 2014-15. The goal is to learn how the treatment helps the patients feel, function and survive. Ultimately, it could lead to the creation of a new drug after the test is complete. If the drug has sufficient promise, approval could be accelerated

This is a promising clinical study that is being funded by Canada’s own Sanfllippo Childrens Research Foundation, and six other foundations from the Spain, Switzerland, and the U.S.. This is one of the most important investments we can make to cure this disease, and our partnership with the SCRF has helped direction $250,000 towards this and similar research.

University of Manchester- Dr. Brian Biggar

Dr. Biggar’s research team found that a product called Genistein may prove useful as substrate reduction agent and delay clinical onset of Sanflippo Syndrom. A low-dose version (which Sophie takes in powder form) is available but a clinical test of a high-dose version is taking place in Manchester and the Amsterdam medical centre. Dr. Biggar’s efforts have also been partially funded by the SCRF.

Institute Pasteur, Paris France- Dr. J.M. Heard

Dr. Heard is leading a test that would inject a gene therapy directly into the cerebral cortex via a needle, thereby circumventing the blood-brain barrier. This test has been completed on a small sample group, and the results are currently being compiled to determine next steps. 

Primary research credit goes to The Canadian Society for Mucoplysaccharide & Related Diseases





Site design Segovia Advertising & Design