BENEFITING: Sanfilippo Research Foundation, Inc.
ORGANIZER: Sanfilippo Research Foundation, Inc.
In May 2013, our son Alex was diagnosed with Sanfilippo Syndrome (Type B), due to his diagnosis we then tested our other two children. In July 2013, our youngest child Isabelle was also diagnosed with Sanfilippo Syndrome (Type B). We were told there is no treatment & no cure. Since then we have found amazing support in other MPS families, we got involved in Natural History Studies which are paving the way for our children. We have seen the decline in Alex, he is going to be 10 this year. We have seen him go from running and happy to being in pain and crying. He cannot verbally express himself anymore. Isabelle is 2 and the disease has not progressed as far with her yet. She still has a few years before the decline starts.
Now we are at that critical time, there is a treatment in a lab the only thing holding our kids back is money. We are joining with several other families to raise the funds needed to start a clinical trial (More info below). This could be an absolute life altering thing for not just my children, but all the other children/families affected with this disease.
About Sanfilippo Syndrome
Sanfilippo Syndrome, or MPS III, is a deadly genetic disease resulting from the body’s inability to produce an enzyme and properly break down certain sugars. The disease causes progressive muscular and cognitive decline. Children slowly lose their ability to walk, to swallow and to communicate. The average lifespan of a child with Sanfilippo is 14 – 20 years. Sanfilippo breaks down into 4 types; A, B, C, and D; each differentiated by the missing enzyme.There is no cure and currently no approved treatments for Sanfilippo Syndrome.
(For more information go to www.mpssociety.org )
About the Research
The Research Institute at Nationwide Children’s Hospital - AAV9 Gene Therapy in Patients with Sanfilippo Type A and B
Investigators: Dr. Kevin Flanigan, Dr. Haiyan Fu, Dr. Douglas McCarty
Research at NCH is poised to begin a phase I/II gene therapy clinical trial for children with types A and B as early as December 2014. An AAV9 vector containing a functioning copy of the gene is injected into the patient intravenously. In animal models, the therapy resulted inwidespread expression of the gene, a clearance of the stored material, improved cognitivefunction and increased lifespan. An investment of approximately $4 million dollars is needed to bring this research to trial.
Please join us in a simple glass of Purple Lemonade & change the future for all that suffer from Sanfilippo Syndrome. Thank you!