Rome, NY, community raises $86K for fight to cure Sanfilippo Syndrome

The community of Rome, New York, turned out in the hundreds for the third annual My Pal Spencer Fundraiser and raised a record $86,522, benefiting Cure Sanfilippo Foundation and supporting medical research to help find a cure and create pathways to more clinical trials for Sanfilippo Syndrome.

2019 My Pal Spencer annual fundraiser photo

Spencer Smith, 5, is the grandson of a Rome, New York, family and has Sanfilippo Syndrome, Type A. 

The annual fundraiser was an incredibly inspiring evening with touching speeches, an entertaining live auction, and hundreds of Sanfilippo children represented by displays at each table.

“The tremendous kindness, love, and generosity from the Rome community and sponsors, as well 
as the dedication of the volunteers, make this event such a huge success,” said Glenn O’Neill, President & Founder of Cure Sanfilippo Foundation and father of a child with Sanfilippo, who was present. “All in honor of Spencer and the mission to cure Sanfilippo. Thank you, Linda and team, for all you do!”

Supporters of Spencer, on his maternal (Hinman) and paternal (Smith) sides, have now raised close to $1 MILLION dollars in just two-and-a-half years. Simply amazing.

“On behalf of all the families with Sanfilippo, we have so much appreciation and thanks for just how much they have done to move the research needle forward!” said O’Neill.

2019 My Pal Spencer annual fundraiser photo

The Hinman family, grandparents to Spencer, expressing their thanks to the nearly 300 supporters in attendance at the annual fundraiser.

See additional pictures from the event on the Foundation’s Facebook page.

Cure Sanfilippo competing for Chan Zuckerberg Initiative’s Rare As One project

We are thrilled to announce that Cure Sanfilippo Foundation is officially in the running for the Chan Zuckerberg Initiative Rare as One funding opportunity.

Rare as One invites patient-led 501(c)(3) organizations focused on a rare disease to apply for a two-year funding opportunity to develop and launch innovative collaborative research networks in partnership with clinicians and researchers.

On July 22, we submitted the application. We feel its a strong application with brilliant new ideas from our Scientific Team.

“This would be huge awareness for 
Cure Sanfilippo Foundation‘s mission and Sanfilippo Syndrome as a whole,” said Glenn O’Neill, President, Founder, and Father of Eliza (Type A).

“Thank you to the Chan Zuckerberg Initiative for venturing into this rare disease space and realizing the urgent and unmet need for this large community.”

In late August, invitations will be sent to selected organizations to submit full applications.

Confirmation screen for Cure Sanfilippo Foundation's submission into CZI Rare As One project

Cure Sanfilippo joins in supporting amendment to manage prescription affordability

Cure Sanfilippo Foundation signed-on to a letter to U.S. Senators Bill Cassidy (R-LA) and Mark Warner (D-VA), voicing our strong support of an amendment to facilitate value-based payment arrangements (VBAs) in commercial markets as part of the U.S. Senate Finance Committee’s forthcoming legislation related to prescription-drug pricing.

The letter, led by the Council for Affordable Health Coverage (CAHC) and co-signed by 14 patient-advocacy organizations, encouraged the Senators to include the VBA amendment.

“VBAs that link payment for medicine with patient-centered outcomes are one tool to help lower costs and promote value over volume. Public and private payers should be provided with multiple options for coverage of these transformative therapies,” stated the letter.

Joining other patient-advocacy organizations, including partner Jonah’s Just Begun, in signing on to the letter demonstrates the wide-spread, patient-community support for the ability of VBAs to help with lowering out-of-pocket costs and improving care.

July 2019 VBA Sign-On Letter to Amendments.

Update: July 29, 2019 
While the amendment was not get included in the final legislation passed out of Committee, Cure Sanfilippo continues supporting efforts for value-based arrangements to be included in the final bill language that goes to the Senate floor in the fall. Additionally, we are supportive of the House introducing a standalone VBA bill later this year.

Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo

Caregivers for children with Sanfilippo Syndrome face a unique set of challenges because of the disease’s complex nature. There is little understanding among clinicians of the family experience of caring for patients with Sanfilippo and how a caregiver’s experiences change and evolve as patients age. The burden and impact on caregivers’ quality of life is poorly defined and best-practice guidance for clinicians is lacking.

Chief Science Officer Cara O'NeillA group of international clinical advisors with expertise in the care of pediatric patients with Sanfilippo and lysosomal storage disorders met to begin filling this void of understanding and create best-practice guidance for clinicians. Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, was among the advisors. As a mother of a child with Sanfilippo, Cara brought first-hand caregiver perspective to the collaboration in addition to scientific and medical expertise.

The group reviewed key aspects of caregiver burden associated with Sanfilippo B by identifying and quantifying the nature and impact of the disease on patients and caregivers. They co-authored recommendations based on findings from qualitative and quantitative research, which were recently published in the Orphanet Journal of Rare Diseases.

The article’s authors report that:
“Providing care for patients with Sanfilippo B impinges on all aspects of family life, evolving as the patient ages and the disease progresses. Important factors contributing toward caregiver burden include sleep disturbances, impulsive and hyperactive behavior, and communication difficulties.
Caregiver burden remained high throughout the life of the patient and, coupled with the physical burden of daily care, had a cumulative impact that generated significant psychological stress.”

Additionally, the authors call for changing the narrative associated with Sanfilippo:

“The panel agreed that the perceived aggressive behavior of the child may be better described as ‘physical impulsiveness’ and is often misunderstood by the general public. Importantly, the lack of intentionality of the child’s behavior is recognized and shared by parents and panel members.

Parents may seek to protect their child from public scrutiny and avoid situations that many engender criticism of their parenting skills.”

Read the complete article from the Orphanet Journal on Rare Diseases.

Helping the research, clinical, and regulatory communities understand the perspectives of caregivers for Sanfilippo children is a priority for Cure Sanfilippo. The fastest path to a cure is when researchers, clinicians, regulators, and patient advocates collaborate and align. Another way to the Foundation is working to amplify the caregiver voice and project it into the industry space is with its Caregiver Preference Study. Learn more about this initiative.

Cure Sanfilippo Asks U.S. Senator Graham to Include Funding for Rare Disease Burden Study

Understanding the economic impact of rare disease, as a whole, on all aspects of society is a critical need in order for public and private entities to make the best policies and decisions possible.

Cure Sanfilippo Foundation has joined with other patient-led rare disease advocacy organizations working to fill that gap by asking members of the U.S. Senate Appropriations Subcommittee on Labor, Health and Human Services, Education, and Related Agencies to include $1.5 million to its appropriations bill to study the economic and societal burdens of undiagnosed and untreated rare diseases.

Based in Columbia, South Carolina, Cure Sanfilippo sent the following letter requesting support to U.S. Senator Lindsey Graham (R-SC) who serves on the committee.

Letter to U.S. Senator Lindsey Graham asking for funding for rare disease burden study

Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

First-Ever Collaboration: Pilot Program Giving Pediatricians Direct Access to Geneticists so Rare Diseases Are Diagnosed Accurately and Early

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.

Learn more about the Faces2Gene project and Foundation’s collaboration.

Dog mourning his human fights to change fate for other terminally-ill kids

Henry was just a puppy when he met the love of his life. Blair was bright eyed and dark haired, just like him, and they bonded instantly. “Constant companions” would be putting it lightly.

Henry The Black Poodle standing guard over Blair ChapinSo when things started to change for Blair because of Sanfilippo Syndrome, Henry was more devoted to her than ever. She needed him, through the seizures, through her body’s slow loss of every ability, even through the moment when she took her last breath. And he was there, standing guard and comforting her.

At the age of 14, Blair passed away on April 4, 2017. Henry misses her every day, but he also fights for a day when special bonds like theirs no longer end too soon because of Sanfilippo Syndrome. He’s hoping to raise $100,000 and has created a three-minute video sharing his story that you can see on his GoFundMe page

When Blair and Henry found each other, their lives changed forever. Help Henry change the lives of other Sanfilippo children, to find a cure, by sharing his story and fight.

See the Facebook post where Henry’s story debuted.

Cure Sanfilippo Announces New VP of Marketing

Cure Sanfilippo Foundation is thrilled to announce that Katie Walton has accepted the position of Vice President of Marketing. Katie has been a key leader and volunteer for more than five years with the Foundation. Her expertise and insight has led to some of the core conceptual themes used by the Foundation, including graphics, website vision, birthday campaigns, marketing materials, and much more.

Katie’s story for the passion and interest in Cure Sanfilippo began while walking down the halls of Ohio children’s hospital in 2014:

“It all started with ear tubes for my four-month-old son. As I carried my son through the halls of Nationwide Children’s Hospital to outpatient surgery, I thought of the parents I was walking among, those shouldering unbearable burdens, and the thought of them never left me,” said Katie Walton. “Fast-forward two months later, I clicked on article and learned about Sanfilippo Syndrome and the possible clinical trial at Nationwide Children’s Hospital. These parents were the kind I had been walking among, the ones I couldn’t forget because they could have just as easily been us. And if it were us, who would carry us? It would have to be the grace of strangers. Firmly believing that you have to put into this world what you hope to see out of it, I dove in to the fight to cure Sanfilippo Syndrome and remain more committed than ever. The ability to devote myself full time to supporting Cure Sanfilippo is an honor and personal passion.”

Glenn O’Neill, President of Cure Sanfilippo Foundation, stated: “We are extremely lucky to add Katie to our team. One of our continued challenges is spreading awareness for a disease few people have heard of and spreading this beyond the circles of the rare disease community. Katie brings not just passion, but many years of hands on experience in crafting messages and content to larger audiences. Katie will 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. This will lead to more engagement and more ongoing support, which is necessary to move our mission forward, faster; always our goal.”

Prior to joining Cure Sanfilippo Foundation, Katie worked for the Ohio Credit Union League, the state trade association for Ohio’s 250+ credit unions, for the past 15 years, including most recently as Vice President of Public Affairs. She oversaw all marketing, communications, public relations, and consumer awareness functions and served on the organization’s management team, providing strategic direction and leadership.

Saving Carter Campaign Update

Hello Saving Carter Supporters,

Saving Carter Campaign Image SavingCarter.comIt has been a few months since our last update. I apologize for the delay. I will start by saying that in rare disease research, there are often speed bumps and unanticipated hurdles toward getting to a point of clinical trial for children. Often this can push timelines back to a point where decisions have to made about what is the best use of funds, particularly with a rapidly neurodegenerative disease like Sanfilippo Syndrome.

Thank you for your incredibly generous support of the Saving Carter campaign, with all donations directly received by Cure Sanfilippo Foundation. The specific intent of this campaign was to further a direct path to clinical trial for children like Carter, who have Sanfilippo Type A and are age 6 or older. In the few current clinical trials underway, for the most part, only children younger than age 6 are being included. In looking at timelines and the projects in the pipeline, the Cure Sanfilippo Foundation Board has made the decision that there are better opportunities to get to a point of clinical trial for children like Carter, other than the original project planned. While this change was not anticipated, it was
necessary and was made with the specific intent of your donated dollars. It is a positive step forward.

While we are under confidentiality clauses, we can share that thanks to your contributions, we are moving forward rapidly with two scientific Sanfilippo Type A programs which could slow disease progression and improve quality of life. These are now approaching the clinical trial readiness stage and offer the most expedient path to a treatment for children like Carter. When battling time, every step forward is a life bridge to the next promising therapy. We have discussed this with Jen and Samir Sarkar, and they are in full agreement with these new paths forward.

Again, our deepest thanks from the whole Sanfilippo community, for your incredible efforts to further research. Thank you for believing in this mission and as always, our thanks to the Sarkar Family for being core members of Cure Sanfilippo Foundation, in the fight to save children. We will continue to keep you updated.

Thank you,
Glenn O’Neill
President of Cure Sanfilippo Foundation

Cure Sanfilippo Foundation scientific projects underway can be found here.

Cure Sanfilippo Funds CRISPR Gene Editing of Neural Stem Cells

Team conducting CRISPIR gene editing for Sanfilippo Syndrome, MPSIIICure Sanfilippo Foundation is excited to grant funding to LA BioMed for the advancement of Dr. Michelina Iacovino’s work in the field of regenerative medicine for the treatment of Sanfilippo Syndrome (MPS III). This innovative work will utilize CRISPR gene editing to transform patients’ own iPSC derived neural stem cells to supply critical enzyme and regenerative factors to the brain.

Dr. Iacovino’s, Assistant Professor of Pediatrics at LA Biomed/Harbor UCLA, research career has focused on the use of stem cells in multiple disorders, MPS diseases, and blood coagulation. Her ongoing work in parallel to this research grant will further develop the iPSC approach to MPSIIIB in her lab. Dr. Iacovino commented: “We believe that this project will provide initial data essential for the development of a Neural Stem Cell therapy to treat Sanfilippo syndromes”.

The application of NSCs in neurodegenerative disorders such as Sanfilippo syndrome is particularly exciting because they could address both the underlying enzyme deficiency of Sanfilippo syndrome while also secreting special substances that help support and promote healthy brain tissue. This fascinating process transforms patients’ own skin cells back into the most basic stem cells in the human body. These newly formed primitive stem cells are then directed in the lab to become stem cells specialized to the brain (neural stem cells). Neural stem cells (NSCs) are the cells that give rise to neurons and supporting cells(glia) of the central nervous system. NSCs also supply the brain with factors
like brain derived neurotrophic factor to keep it healthy. CRISPR gene modification of the NSCs will then allow the cells to produce enough MPSIIIA enzyme to supply what is missing in the brain.

“Using a patient’s own cells and modifying them as needed, drastically reduces concerns about the body having a reaction to the cells, therefore allowing the regenerative cells to remain in the brain and provide benefit indefinitely. This would be an incredible achievement and benefit to the children suffering from MPSIII.”, says Dr. Cara O’Neill, Chief Scientific Officer at Cure Sanfilippo Foundation.

Link to Michelina Iacovino PhD:

Link to article on MPSIIIB iPSCs:

Cure Sanfilippo Foundation

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

P.O. Box 6901
Columbia, SC 29260