Charities Unite Worldwide to Fund Research into Reversibility of Brain Damage Caused By Sanfilippo Syndrome

(RARE Project – Dana Point, CA) Rare Disease affects 350 million people worldwide, consisting of 7,000+ identified diseases and disorders.  Currently less than 5% of all rare diseases have any type of therapy or treatment, and much of the early stage research is frequently seed-funded by parent advocates, advocacy organizations and non-profit groups. There is an important new trend in rare disease research where a group of rare disease advocates (sometimes representing different rare diseases), collaborate, and pool their resources to fund promising early research.

Led by the Team Sanfilippo Foundation, a group of worldwide charities has announced a $145,000 AUD grant to Dr Kim Hemsley and Professor John Hopwood in Adelaide, Australia to study the fundamental disease processes involved in the pathology of MPS III Sanfilippo Syndrome.

“The ability to treat symptomatic, older patients is crucial not only for patients currently living with neurodegenerative disorders like Sanfilippo Syndrome  but also for  future patients that will inevitably go undiagnosed until they show symptoms.  Given the rarity of lysosomal storage diseases, global collaboration is required to obtain critical mass in our collective battle. ”

-Kathleen Buckley, President of the Team Sanfilippo Foundation

“Collaboration is critical and necessary for the rare disease community on all fronts.  From helping build awareness to funding research, the more we unite the more impact can be made.  Those forward thinking organizations that understand this will move the needle much more quickly for their specific causes.  The Sanfillippo community is making strides on important research that will ultimately help find treatments and cures much more quickly.  They are a model for others.

-Nicole Boice, Founder of the R.A.R.E project

Sanfilippo Syndrome is a rare and progressive neurodegenerative disease affecting 1 in 70,000 births1.  It is caused by a genetic defect resulting in a dysfunction of one of four crucial enzymes.  The absence of any of these missing enzymes results in an accumulation of heparan sulfate.  The disease primarily affects the brain and central nervous system.  Children develop normally for the first couple years of life and then suffer progressive loss of skills including the ability to talk, walk, eat and even eventually breathe.  Affected children typically die as teenagers.

There is hope that the current treatments in human clinical trials, enzyme replacement and gene therapy, will halt the progression of the disease but are not expected to fully recover lost cognitive ability.  While a missing enzyme and resultant build-up of waste materials are implicated as the root cause of the disease, incomplete knowledge exists as to the precise damage mechanisms at play in the pathology of the disease.  Understanding these processes is important to improve the life of patients whose treatment has begun after they show symptoms.  As newborns are not screened for the disease, most patients are not identified until symptoms present.

This effort will use the latest science to study the real-time progression of the disease in a mouse model, enabling an understanding of what goes wrong and why.  The ultimate goal is that this new understanding will lead to more effective treatments and a better understanding of what, if any, of the damage might be reversed.

While this study will focus on Sanfilippo Syndrome, the findings of the study will benefit those suffering from similar disorders with similar pathways (e.g. Hunter Syndrome, Hurler Syndrome, Tay-Sachs, and others)

For more information regarding ongoing clinical trials in Sanfilippo Syndrome, see:

Sanfilippo Syndrome Type A

Sanfilippo Syndrome Type B

Inquiries regarding this effort may be made to

Funding for the project is provided by

This press release was generated in collaboration with and sponsored by the R.A.R.E Project, a 501c3 non-profit organization whose mission is to increase awareness, build a connected community and catalyze funding for early research, all in an effort to make life better for those living with rare disease.  For more information

Sanfilippo Syndrome Retrieved January 19th, 2012 from