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.

Cure Sanfilippo Foundation

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

curesff@gmail.com

P.O. Box 6901
Columbia, SC 29260

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