Foundation Update – July 2019

When you make a donation, you make an investment in Cure Sanfilippo Foundation. We want to share how your investment continues to pave a new future for families with Sanfilippo children.

FUNDRAISING PROGRESS UPDATE

Through the end of June, the generous support of donors and hard work of partner families has raised $631,367 in 2019. AMAZING!

We’re immensely thankful for the time our partner families and their friends and loved ones devote to hosting events and the treasure that people, strangers, relatives, and friends alike, have contributed. Large or small, every donation and fundraiser counts. Your contributions are turning hope into action to save children.

People support the Foundation in so many ways – collecting change, making donations in lieu of wedding favors, involving their local school and businesses – each an expression of their own personalities and kindness. One that continues to amaze us are the people who create their own Facebook fundraisers on behalf of the Foundation’s mission, often forgoing their birthdays to fund research to cure Sanfilippo. And they’re often relatives and friends of Sanfilippo families, who have chosen to purpose over presents.

And this year, more than a dozen Sale2Save lemonade, yard, and bake sales by families, friends, and supporters collectively raised nearly $10,000. And while the “official date” was June 15, it is a simple fundraiser that can be hosted anytime this summer. 

2019 Sale2Save 2019 Sale2Save 2019 Sale2Save

 

RESEARCH + SUPPORT PROJECTS UPDATE

We’re working daily to fill gaps in knowledge and information among the medical and scientific communities and general public and to directly influence the pace, focus, and measurement of research of patient-focused treatments and therapies for children with Sanfilippo Syndrome.

Scientific & treatment projects on the horizon

Thanks to your support, we’re working on several new research projects to tackle aspects of treating Sanfilippo, including the inflammation side effect, the body’s production of heparin sulfate (the sugar that can’t be broken down), and next-generation gene therapy. We hope to have details of one project solidified soon so we can share the news with you. But science is an ever-evolving field, so moving things forward is a bit like aiming at a shifting target, which naturally takes longer and requires careful attention to details. We’re committed to getting it right and bringing this new research to kids as quickly as possible.

Beyond new research, your funding of past projects continues to make a difference. For example, the funds that helped launch the gene therapy clinical trial in 2016 continues to benefit Sanfilippo kids and their families today. The company is still running the trial, adding new children, giving even more families a chance at changing fate. And it’s all because of you. Your investment made the clinical trial initially happen.

Visit the Foundation’s research page for details about the projects underway. 

INFLUENCING COMMUNITY & AWARENESS

SPEEDING DIAGNOSIS BY EMPOWERING PEDIATRICIANS

Families need faster, accurate diagnosis so they can access clinical trial opportunities as soon as possible. A key to this happening is bridging the gap in pediatricians’ access to genetics information, especially regarding rare diseases. To help bridge this gap, Cure Sanfilippo Foundation has partnered to pilot the Genetics Access in Primary Pediatrics (GAAP) project, linking Greenwood Genetic Center’s (GCC) clinical geneticists and genetic counselors to pediatricians through the Faces2Genes app.

Face2Gene analyzes patient photographs using machine learning and computer algorithms to help make challenging diagnoses. Through the GAPP pilot project, the Face2Gene improves patient wait times and allows a pediatrician to identify patients through a list of genetic “triggers” or features that may indicate a need for further genetic evaluation.

If the patient’s family elects to be a part of the GAPP pilot project, the pediatrician uploads facial photos and other clinical information to Face2Gene where it can be securely shared with GGC clinicians for review. The geneticist can suggest appropriate referrals or genetic testing that can be initiated by the pediatrician in advance of the genetics appointment. Urgent referrals can be prioritized, and when the patient does come in for their genetics consultation, initial test results have already been completed, saving valuable time.

STORY OF HENRY & BLAIR RAISES AWARENESS

Henry and Blair, a devotion like you wouldn't believeIn May, the story of Henry’s devotion to his beloved Blair, even in the final moments, was shared with the world. Learning about Sanfilippo Syndrome through the eyes of Henry, the video was viewed nearly 300,000 times and shared more than 2,400 times, bringing greater awareness about the need to cure this disease.


KEEPING SANFILIPPO IN THE SPOTLIGHT

Being seen is part of being known, which is why we accept opportunities to represent the Sanfilippo community and speak about the Foundation’s mission. Most recently, Chief Science Officer Cara O’Neill was the dinner keynoter at the National Institute of Health’s CNS Immunogenicity Meeting, President Glenn O’Neill was a featured panelist at the Rare Innovation & Partnering Summit, and VP of Marketing Katie Walton participated in the BioMarin Patient Advocacy Forum alongside other rare disease advocacy organizations, including Jennifer Siedman of Ben’s Dream – Sanfilippo Research Foundation and the Courageous Parents Network.

Cara O'Neill speaking at 2019 National Institute of Health’s CNS Immunogenicity Meeting Glenn O'Neill speaking at 2019 Rare Innovation & Partnering Summit Katie Walton at 2019 BioMarin Patient Advocacy Forum

While in Washington, DC, for the CNS Immunogenicity Meeting, Cara took advantage of the meetings on Capitol Hill to deliver the parent perspective of Sanfilippo and rare disease to Congressional offices, including U.S. Senator Tim Scott (R-South Carolina) who sits on the Committee on Health, Education, Labor, and Pension. 

Cara O'Neill in front of U.S. Capitol Cara O'Neill meeting with U.S. Senator Tim Scott

ORGANIZATIONAL UPDATE

We are a network of Sanfilippo families that continues growing

We are incredibly proud and deeply humbled by the more than 65 partner families who have chosen to align with the Foundation’s efforts. They *are* the Foundation. And every day, we endeavor to represent and fight for their best interests.

Hero Matthew
Matthew
Age 5 | Massachusetts
Read his family’s story



Competing for Chan Zuckerberg Initiative’s “Rare As One” project

The Chan Zuckerberg Foundation has invited patient-led 501(c)(3) organizations to apply for a two-year funding opportunity to develop and launch collaborative research networks in partnership with clinicians and scientists. This opportunity would help the Foundation expand the impact of our thought-leadership and innovative approaches regarding patient involvement in scientific research and empowering clinicians with genetics tools and resources, further improving evaluation of therapies and getting children diagnosed sooner.
Thank you for fighting to save children and their families

Foundation Update – April 2019

When you make a donation, you make an investment in Cure Sanfilippo Foundation. We want to share an update on how your investment continues to pave a new future for families with Sanfilippo children.

FUNDRAISING PROGRESS UPDATE

Thanks to your tremendous support, $400,000 was raised in first-quarter 2019, largely from fundraisers and events hosted by several of the Foundation’s partner families. Large or small, every fundraiser and donation counts. And we’re immensely thankful for the time our partner families and their friends and loved ones devote to hosting events and the treasure that people like you — strangers, relatives, and friends alike — have contributed. You can’t help but believe in the goodness of our world when you see generosity and kindness like this.

Since the Foundation was created in late 2013, fundraising has largely relied on a few main sources: people generously supporting partner families leveraging their personal networks and viral campaigns attracting grassroots support. To continue growing as a Foundation, we’re exploring other sources for donations and income to support our mission, including options for private foundation grants. It’s a new realm that we’re diving into, but we have high hopes.

RESEARCH + SUPPORT PROJECTS UPDATE

We’re working daily to fill gaps in knowledge and information among the medical and scientific communities and general public and to directly influence the pace, focus, and measurement of research of patient-focused treatments and therapies for children with Sanfilippo Syndrome.

Scientific & treatment projects on the horizon

  • Thanks to you support, the Foundation is working to start a clinical trial in 2019 for a new treatment method to reduce inflammation of the brain, a severe effect of Sanfilippo Syndrome that causes brain damage, which could improve a child’s quality of life.
  • Work is underway to plan and fund a clinical trial for a new gene therapy treatment.
  • In addition to these, the Foundation is constantly seeking and collaborating with others on additional research and treatment projects, including some under consideration that show promise and are going through our due-diligence review process.
Many research projects funded by the Foundation are continuing to move along with promise. Visit the Foundation’s research page for details about the projects underway. 

Conducting first-ever caregiver preference study

The researchers, the U.S. Food and Drug Administration (FDA), drug companies, and doctors studying Sanfilippo Syndrome don’t live with the disease like the families do. Which can cause mis-alignment regarding measuring treatment benefits. To bridge that gap and help investigators better appreciate meaningful change and benefit, the Foundation launched the first-ever Caregiver Preference Study for Sanfilippo Syndrome.

Tapping the Sanfilippo community, Cure Sanfilippo Foundation asked parents and caregivers to share the most meaningful symptoms to address in developing therapies for children with Sanfilippo Syndrome. Three in person focus groups, and more than 150 survey responses from 15 different countries were submitted, creating a critical mass of data. The information will be developed into a report that’s distributed to regulatory and industry, and available globally, so they can better align research end points.

Read more about the Caregiver Preference project.

Developing global clinical management guidelines

Among the Foundation’s current efforts to elevate awareness among the medical and scientific communities, we are collaborating with Sanfilippo Children’s Foundation (Australia) to create Global Clinical Management Guidelines for Sanfilippo Syndrome.

Doing so creates best practice guidelines critical for patients and health care professionals in the management of rare diseases where scarcity of expertise is a well-known and far too-common cause of late or incorrect diagnosis and care. Such guidelines allow physicians and other health care professionals to make recommendations based on best-available evidence, improve consistency of diagnosis and clinical management across treatment centers, and enable affected families to make informed decisions regarding treatment.

Having guidelines available shortens the time to diagnosis in rare diseases due to the increased awareness and the available resource to clinicians around the world. As several programs related to Sanfilippo Syndrome move through the translational pipeline to clinical trial, the need for such clinical guidelines has become increasingly evident. 

INFLUENCING COMMUNITY & AWARENESS

Advocating for families and patients with FDA

Supported by your donations, our team works tirelessly towards the mission to cure Sanfilippo, and it is getting noticed. Recently, Chief Science Officer (and mom to Eliza, MPSIII) Cara O’Neill was invited to join industry partners for a meeting with the FDA. Her ability to provide a patient-advocate perspective and voice, in addition to medical and scientific expertise, makes her a sought-after mind to have at the table regarding the path of potential treatments for Sanfilippo Syndrome.

Clarifying roadmap for newborn screening of Sanfilippo

Cara also attended the 2019 Newborn Screening Bootcamp in early April to represent Sanfilippo Syndrome. She was able to gain valuable insight from those ahead of us on the road to be included on the newborn screening test, and how they were able to accomplish it. “We’ve got a lot of work to do for MPSIII, but seeing and helping forge the path ahead is exciting!” said Cara. 

Thank you to EveryLife Foundation for a travel stipend for Cara to attend this important informational session. 

ORGANIZATIONAL UPDATE

We are a network of Sanfilippo families that continues growing

We are incredibly proud and deeply humbled by the more than 65 partner families who have chosen to align with the Foundation’s efforts. They *are* the Foundation. And every day, we endeavor to represent and fight for their best interests.

Hero Matthew
Matthew
Age 5 | Massachusetts
Read his family’s story


Be a ripple in the pond; sell lemonade during nationwide Sale2Save fundraiser in June

2018 Lemonade Stand for Luke BittnerEvery year,  you — the families, friends, and supporters of Sanfilippo children — host garage, lawn, lemonade, and bake sales around the country to support research to cure Sanfilippo Syndrome. Join us for this year’s Sale2Save on Saturday, June 15. Nationwide events like these are powerful because of their scale. Think of it like this: if you are one of 20 people holding a Sale2Save in your front yard and generate $500 each, that amounts to $10,000! Image if you’re one of 50 people raising $1,000 … $50,000! Be a part of that magic.

Adding a new member to Cure Sanfilippo team

After nearly five years as a volunteer leader with the Foundation, Katie Walton joined full time as VP of Marketing to enhance our ability to professionally present and drive the Foundation mission, values, and accomplishments, in a customized way, to a variety of audiences via different mediums. Your support of the Foundation enables us to make this addition to the team, which will lead to more engagement and more ongoing support to move our mission forward, faster; always our goal. 

Other News

Viral video still circling the globe, but not the one you’re probably thinking of

Three years ago, Glenn and Cara O’Neill took the phone call that would change their family forever. A call letting them know whether their daughter Eliza would be permitted in a possibly life-saving clinical trial for Sanfilippo Syndrome. And they had a personal camera documenting the moment. Thankfully, the news was good; Eliza was accepted.

Months later, Glenn and Cara decided to share that raw and life-changing moment in the hopes of spreading awareness to gain more funding for research for the many Sanfilippo children suffering and in need of a chance at life.

Today, the video continues spreading awareness and you and other people are still sharing and viewing it. Earlier this month, it surpassed three million views on YouTube. Thank you for continuing to help spread awareness.

“Saving Eliza” video launched to the world five years ago

On April 2, 2014, the three-minute “Saving Eliza” video was released. A gamble. A shot in the dark. But filled with hope. In the first 15 days, you helped the video raise $500,000, every dollar going to fund research to help all children with Sanfilippo Syndrome. By the summer, your support drove Saving Eliza to become GoFundMe’s first campaign to ever reach the $1 million-raised mark. In late 2014, it became the first to reach $2 million, thanks to your continued sharing and giving. As a result of your generosity, the gene therapy clinical trial was funded and at least 15 children, including Eliza, have since been treated.

Foundation Update – Spring 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.

NEW GRANTS FUNDED:

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!

NEW FAMILIES:

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

www.CureSFF.org
curesff@gmail.com

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

Cure Sanfilippo Foundation

501c3 non-profit
(Tax ID: 46-4322131)

curesff@gmail.com

P.O. Box 6901
Columbia, SC 29260

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