Foundation Update – Spring 2018

May 15, 2018

Hello again,

Thank you for taking the time to read our brief update below, all of which is thanks to your support.  

2018 has already seen some exciting news and updates in Sanfilippo Syndrome!

Clincial Trials:

  • The Gene Therapy clinical Trial for Sanfilippo Type A and Type B, that your dollars helped support, are both now underway and at least 11 children have been treated.  Results are rolling in slowly, but there continues to be optimism that the therapy is having an impact on the disease.  Treatment doses have been escalated for the more recent children treated, likely in the hopes for even more effectiveness.  For the latest specifics on the results, a press release was released in February.
  • The one other clinical trial underway is an Enzyme Replacement therapy for Sanfilippo Type B, which recently began treating children in the United States!  

There are several other companies who have plans to start clinical trials soon, or in 2018 including Esteve, Lysogene, Sobi, and Orchard. While this is all very exciting, considering 10 years ago, there were no trials happening, it still is far short of where we need to be.  And in this disease, as we know, TIME is EVERYTHING. These new trials also will have exclusion criteria which will leave out children most in need NOW….which brings us to our next topic:  how do we continue to make the most significant impact?

2018 Foundation Goal:

Our Foundation has set our goal for 2018 to raise $2 Million Dollars!  It’s a lot, yes.  But… we would like to commit funding to a new and novel Enzyme Replacement clinical trial, that has seen remarkable results in related MPS disorders. This trial may have the potential to treat children who have been declined from other clinical trial criteria.  So far, in 2018, you’ve helped us raise over $280,000.  This is thanks to some incredible supporters and family fundraising around the country.  A highlight was the Woodlands Charity Challenge in March, where the WILL POWER team finished in FIRST PLACES  and raised $43,500 for the Foundation!  Remarkable and inspiring!

We do know that we have a long way to go to reach out 2018 goal though….so I wanted to let you in on something we have coming very soon.  Remember the Saving Eliza video, which you helped to raise over $2Million for research?  Well we are working to tell another story, about 6 year old Carter, and we are going to be asking for your help to share this story with the WORLD.  Carter, like so many other children, need a treatment and need it now.  Carter is going to be our “Poster Child” to help represent all of these children…those left out who have not yet received a treatment.  This new campaign will be a push for $1Million to help fund this new clinical trial and reach this 2018 goal.  “Saving Carter” will be coming in mid-late May.


In the first quarter of 2018, we funded two  more breakthrough research grants, which have promise. The latest, Targeting Amyloid Aggression as a Therapeutic Approach, can be found, along with all of our grants funded at the Grant Link.  A quote from our Scientific Director: We are pleased to support this new approach to addressing a key feature of neurodegeneration.  The many biochemical similarities among neurodegenerative conditions like Alzheimer’s Disease, Parkinson’s Disease and Sanfilippo Syndrome are striking. Research aimed at these common features offers the opportunity to find ways to improve the lives of loved ones with these devastating conditions, said Dr. Cara O’Neill, Scientific Director of Cure Sanfilippo Foundation.

In total, you’ve now helped us fund 14 research grants and studies around the world, with many more to come!  You are making a difference for children today, and for generations to come.  One day, this disease will have newborn screening & approved and available, effective treatments to stop the toxic storage buildup before it even begins. And it will be thanks to you.  To get there, the goal is to fund more research and more clinical trials as soon as possible. 

Congrats also this past month to our Scientific Director for being acknowledged as a Rare Disease DIfference Maker!


Hearing about the diagnosis of new families is always difficult.  We talk on the phone and often cry together about the reality of the prognosis of the disease.  We are honored to have so many volunteer families that make up Cure Sanfilippo Foundation, now over 50 families.  As difficult as the new diagnosis is, it helps to talk with other families and we continue to be inspired by those jumping in the fight.  You can read these recent family stories by clicking on the names below:

Abby Wallis – age 22
Angelina Rose – age 15
Caroline Merrick – age 2
Danny Feinour – Danny passed away recently at age 23 :(
Tucker Ward – age 10
Trinady Bowen – age 7

We have more updates and will start sharing these with you on a monthly basis.  Thank you for staying on this journey with us. 

Thank you for your time, your support, and your providing hope for Sanfilippo families!  You have, and ARE, changing the future for children with this disease.  

Glenn O’Neill – President & Executive Director
Cure Sanfilippo Foundation

PS:  Please know that the parents of the children pictured below, and many many more, THANK YOU, for providing them HOPE.  

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