The Latest News
Most-Recent Foundation Updates
Video: Foundation provides scientific update, Coronavirus impact
Finding treatments and a cure for Sanfilippo Syndrome is the mission of the Foundation, it partner families, and families of children with Sanfilippo around the world.
The Foundation is ardently continuing this mission on all fronts, including the science/research, advocacy, and fundraising to move projects forward, as much as possible during this time of Coronavirus.
“As every parent of a child with Sanfilippo Syndrome knows, when battling a rapidly degenerative and fatal disease, these suffering children can’t afford a pause or a slowdown of progress, so we are trying to minimize this wherever possible,” said Foundation President Glenn O’Neill.
Watch this 14-minute video update from Chief Science Officer Dr. Cara O’Neill, updating partner families, discussing the science/research impact from Coronavirus, and detailing the work Cure Sanfilippo Foundation is doing to keep the mission moving forward.
Stay safe, and thank you to the partner families, supporters of the Foundation, researchers who continue to work on Sanfilippo, and those working the front line to battle Coronavirus and those keeping essential services running for us all.
This video is also available on the Foundation’s Facebook page.
Statement on Coronavirus
The world is grinding to a halt because of Coronavirus. Except for one thing that continues at the same pace … time. And time is the greatest enemy to children with Sanfilippo Syndrome.
Coronavirus is impacting the Sanfilippo community on a few crucial and intertwined fronts:1). research/clinical trials;
2). fundraising/financial; and
3). risk of additional illness for children with Sanfilippo.
The significant impact on the first two will undoubtedly delay aggressive progress to find a treatment or cure for this rapidly-degenerative disease, as well as experimental treatments for children. It’s happening already. The third adds increased worry and stress to parents already dealing with the worst imaginable diagnosis for their child.
Some of the ways that Coronavirus is impacting the Sanfilippo community:
- Planned fundraising events in the immediate days are being evaluated to possibly be postponed or cancelled. Just a few days ago, the Abby’s Alliance 5K in Houston, TX, was cancelled.
- Fundraising events in the coming weeks and months are in limbo as organizers wait to see the progress of the virus. Among those up in the air are the Super Eliza 5K in Columbia, SC, coming up in April, and other events in May and June.
- The plan to launch a new viral video campaign in late March, hoping to raise over $1M for Sanfilippo research, has been put on hold because the time is no longer right, based on Coronavirus in the news.
- In-person meetings with donors are being cancelled, postponed, or being conducted via other means.
- Research and clinical trials, including enrollment of the Foundation’s sponsored clinical trial treating children to reduce inflammation in the brain, are being put on hold as facilities restrict access and continued concerns about travel exposure.
- Meetings with regulators, such as the Foundation’s important upcoming meeting with the FDA, are being changed from in-person to virtual settings.
- Research projects to be funded later in 2020 and 2021 being re-evaluated based on ability to bring in the funding needed.
- Staff at institutions working on Sanfilippo, including the Foundation, are navigating the disruptions to their lives, such as state-mandated school closures, and how it impacts their ability to work.
- Children with Sanfilippo Syndrome may be at risk for more severe complications due to conroovirus, particularly those in the more severe stages of Sanfilippo Syndrome.
- One of the characteristics of Sanfilippo is that children tend to put all sorts of things in their mouth including their hands, which makes it more difficult to keep potential viruses away, particularly the younger more active children with Sanfilippo.
- For families who have children that take immunosuppressive medications (ie prednisone, tacrolimus, mycophenolate mofetil, and others), please consult with your doctor about any precautions needed for your individual circumstance. Information is quickly changing, so please keep updated on CDC website, and see helpful resources links below.
Like you, we wait to see how far and long the impact of Coronavirus goes. In the meantime, we will continue doing our best to keep the fight to cure Sanfilippo moving forward as fast as possible. We are also working on short term, and longer term impact strategies.
We believe that this pandemic has given many a new and “all too real” perspective on the stresses that come with worrying if your loved ones will remain healthy. It’s just a glimpse into what Sanfilippo parents face every day after diagnosis. We understand that you and your family’s health are the primary concern, as well as your finances. And these should be as these are two of our primary needs in life, and we are right there with you. We hope we ALL can get back to a “new normal” soon.
Through it all, we are incredibly humbled and genuinely thankful for you. Your support – past, present, and future – means everything to us in the ability to maintain progress against this disease. One of our taglines in the past has been “In It Together.” Well we are all truly “in this together” and we will get through it together.
We wish you and your families safety and health throughout these trying times. We truly appreciate you and thank you.
— Cure Sanfilippo Foundation
Information on Coronavirus
- Center for Disease Control (CDC): https://www.cdc.gov/coronavirus/2019-ncov/index.html
- HealthyChildren.org: https://healthychildren.org/English/health-issues/conditions/chest-lungs/Pages/2019-Novel-Coronavirus.aspx
Activities for Kids
There are so many free resources available now in light of the pandemic. Here are just a couple that we enjoyed during our previous period of isolation.
Foundation Update – October 2019
“This shouldn’t happen! Especially not to children.”That’s what you thought when you first heard about Sanfilippo Syndrome. You put yourself in the shoes of these parents who were told that their children will suffer and die from Sanfilippo, and it broke your heart.
But you made the remarkable decision to something to help.You donated to Cure Sanfilippo Foundation to find a treatment or cure. And your donation is an investment to create a different future.
You can see how your donation is helping cure Sanfilippo Syndrome.More research is happening than ever before. More clinical trials than ever in the history of Sanfilippo. Including more than 20 projects and multiple clinical trials funded by Cure Sanfilippo in five years. And much more to come.
Check out the IMPACT REPORT.
Get a deeper look at what your generosity has already fueled. See the faces you are helping and the future you are creating.
Thank you for your generous support. A cure is closer than ever because of you.
Dad, Donor, President Cure Sanfilippo Foundation
Research Projects & GrantsThanks to your incredible support, the Sanfilippo community is pleased to see several potential therapies moving towards human trial. Our most-recent projects and grants are below. Visit the Research & Grants page for the complete list of projects and grants funded by Cure Sanfilippo Foundation.
Re-Purposing FDA-Approved Inflammation Drug for Sanfilippo
Cure Sanfilippo Foundation is sponsoring an “Open-label Study of Anakinra in MPS III” clinical trial in collaboration with The Lundquist Institute (formerly LABiomed), and Sobi (Swedish Oprhan Biovitrium AB).
This study is an open-label, single-arm, no placebo or control group trial of the IL-1 antagonist drug Kineret. The goal of the study is to determine if a number of disease symptoms can be improved by treatment with Kineret, thereby improving patients’ quality of life.
This drug is already FDA approved for several indications, one of which is a pediatric disorder. Testing an existing drug for a new disease, as in this trial, is called “drug repositioning” or “drug repurposing.”
Pre-clinical research has shown that reducing inflammation can impact symptoms of the disease. However, unlike steriods which are often used to combat inflammation, Kineret does not carry the same side effects of long-term steriod use.
Study DescriptionInflammation has been connected with disease pathogenesis in the MPS disorders. Therapies aimed at decreasing inflammation are currently being studied in many MPS disorders and showing benefits.
IL-1 is a cytokine molecule involved in the inflammatory cascade. Research into the animal model of MPS III has identified IL-1 as a major target for addressing inflammation in the body and brain of affected animals. Blocking the ability to respond to IL-1 has shown benefits in the progression of brain disease and behavior in MPS III animals. (Read more about this research at https://www.embopress.org/doi/
This study will be assessing for beneficial changes in a number of disease related symptoms. Some of these include, but are not limited to, improved behavior, sleep, stooling, communication, mood, and mobility; as well as decreased seizure frequency, disordered movement, and fatigue as they may apply to each individual.
Administration of Kineret does not impact the primary disease enzyme deficiency of Sanfilippo syndrome. However, due to the cascade of detrimental effects from the primary disease, evidence would suggest that addressing this target in the inflammatory cascade could help slow or improve some of the secondary disease effects.
This study is open for any Type of Sanfilippo (A, B, C, D).
Study Contact InformationIn December 2019, the trial was listed as “Enrolling” on ClinicalTrials.gov.
Study contact: Adolfo Morales, The Lundquist Institute, 310-357-9023, firstname.lastname@example.org.
Why and how to achieve novel outcomes in neurodegenerative gene therapy trials
Picking outcome measures for neurodegenerative gene therapy trials in rare disease is difficult. The conditions often have a lot of heterogeneity, relatively small sample sizes, and rarely disease-specific outcome measures. That is why “outside the box” thinking is necessary, and Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, shared how novel outcomes could be used to expand and improve evaluation of gene therapy trials for neurodegenerative diseases at the Lysogene/Sarepta satellite symposium during SSIEM 2019 last week in Rotterdam, Netherlands.
Most of the measures used in childhood neurodegenerative conditions are drawn from more general measures based on normal neurodevelopment and behavior patterns, rather than hallmarks of particular disease. So rare diseases are always being compared to “Normal.” But is that a fair comparison knowing that these patients have had chronic ongoing brain injury to the immature developing brain?
“We have to do a better job of matching endpoints with the patient’s needs across the spectrum of any given disease,” urged O’Neill.
The key is meeting the patient needs, not the clinician’s needs or fulfilling assumptions that have been made in the past about patients’ need.
“We must get as close as we can to discerning what is going to make their life better, for however long that is.”
Sharing early data from the Foundation’s MPS III Caregiver Preference Study, O’Neill noted that the more than 160 Sanfilippo caregivers across 14 different countries listed pain, communication, mobility and hyperactivity among their treatment priorities. Additionally, what caregivers prioritize changes along the course of the disease.
O’Neill detailed how the Foundation has partnered with Aparito, Casimir Trials, and Lysogene to conduct an exploratory study of novel outcomes for MPS IIIA running in parallel to AAV10-SGSH intracranial gene therapy trial. The study uses frequent video capture by caregivers to monitors specific disease hallmarks and priorities identified by the Caregiver Preference Study in the child’s familiar environment to capture the child’s best ability.
The patient-reported outcome videos study has allowed detection of subtle, but meaningful, incremental changes and appears feasible for longer term monitoring of real-world functioning and patient status, reported O’Neill.
Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo
A 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.
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.
We’re working to cure Sanfilippo Syndrome
When our daughter Eliza was diagnosed with Sanfilippo Syndrome at the age of four, we decided we had to do everything possible to find a cure. It was the motivation that any parent can relate to as you will “got to the ends of the earth” for your child. So, we created Cure Sanfilippo Foundation in order to pursue every avenue to change the fate for every Sanfilippo child, not just our daughter. TIME is not on these children’s side, so the URGENCY is paramount. Cure Sanfilippo Foundation has come to represent a collection of Sanfilippo families (more than 65 now) and friends/supporters from across the country fighting to save our children under a single umbrella. There’s HOPE for a cure, and that HOPE comes from the ACTION that is being taken from supporters like you, to further this mission to save children, and cure Sanfilippo.
– Glenn and Cara O’Neill, parents of Eliza
Our mission is simple:
To advocate for and fund research directed towards a cure and treatment options for patients with Sanfilippo Syndrome.
Cure Sanfilippo Foundation is a 501(C)(3) not-for-profit organization.
All net funding goes to the urgent mission to advance treatment options to treat children with Sanfilippo. Our volunteers are in the hundreds who support the Foundation, our events, and our campaigns. This is led by proactive families of children with Sanfilippo Syndrome, and their supporters, who work tirelessly to change the fate and future for children. Donations are tax-deductible.
Please contact us:
Whether you are the family of a child with Sanfilippo, a researcher looking for funding, or simply someone who wants to get involved and help raise awareness, we would love to hear from you.
Mail: PO Box 6901, Columbia, SC 29260
Learn More About What We Do:
- We Raise Money & Fund Research
- We Drive Collaboration
- We Increase Awareness
- We Support and Unite Sanfilippo Families
- Who Leads the Foundation
We Raise Money & Fund Research
See the grants awarded thus far at Research & Grants. Our efforts are global and far reaching as our goal is to end a disease. When the disease first starts showing around age 3, we parents are just beginning to see our child’s personality and potential….and then it is all taken away. Today, nothing exists to stop this, but real HOPE is on the horizon. Breakthrough science has discovered treatments and a hopeful cure which have proven in research models to slow or stop Sanfilippo. We fund this most promising research to bring about more clinical trial options…a life line for these kids. But we need your help in raising these funds.
Each year, we set huge fundraising goals
Many might wonder, “Why so much?” Our Foundation has a vision of not just funding research for a cure for every kind of Sanfilippo as it becomes available, but instead being so influential that we’re dictating the pace of research. This means that as promising ideas and research emerge, we’re able to make lab capacity, fund facilities that quickly take ideas forward to clinical trials.
How are those funds spent?
Every single dollar matters, and adds up toward this effort and all net dollars go toward this urgent mission. That might be drug production for children to be treated, clinical trial resources, breaking research in enzyme replacement, stem cells, chaperone therapies, or tackling the antibody suppression issue in gene Therapy. Time is not on the children’s side, but HOPE is. Your compassion is making the difference. You have our deepest thanks for your support for this life saving mission.
We fund a variety of projects
We believe, based on research and expert opinion, that it will take a mix of complementary and/or supplementary treatments to truly come to a functional “cure” for Sanfilippo Syndrome. This may be several different treatments over their lifetime. That is the reason we fund the most promising science in a variety of research areas, and the details of this research funded can be found at link here: www.CureSFF.org/grants.
Apply for foundation funding
If you’re a clinical researcher and are interested in funding from the Cure Sanfilippo Foundation, please email us and we can begin a conversation.
We Drive Collaboration
When you receive the diagnosis of Sanfilippo, you immediately want answers. What does this mean? Where’s the research? Who can I talk to? Contact us directly at email@example.com.
We’re a community, here to share information, the latest research, how to fundraise and spread awareness.
- Many Sanfilippo families working together with our Foundation to raise awareness and significant funding toward our $2 million goal in 2016.
- Grassroots Family-run Fundraising efforts: golf outings, auction parties, fishing and dodgeball tournament, 60+ national coordinated yard/garage sales on one day, etc…
- Cure Sanfilippo Foundation holds regular calls for Sanfilippo families to share information, discuss progress on research & clinical trials, gather community feedback, and collaborate on ideas.
To see how individual families are raising awareness through social media, visit Meet the Families.
We keep families connected to research and fundraising.
We coordinate regular “Family Conference Calls” (typically every quarter) where we share the latest information, largely the progress of research and clinical trials, as well as current fundraising and awareness strategies and support.
We drive a network of sharing.
We coordinate quarterly “Foundation Conference Calls” with Foundations around the world. We’re constantly leading the charge in pursuit of the research and moving it toward clinical trials. Information is empowering, so we’re always looking for ways to share everything.
PRESSING FOR shared research findings.
The research we fund: We do our best to hold the researchers to standards of sharing their findings so others may build upon it, enabling a cure faster.
Encouraging Families to join the global Registry
The reality is that the more our patient population can be represented fully in a registry, the more interest there will be from industry to pursue and develop treatments. That’s why we fully inform our families about the existence of the Global MPS/ML Registry called Connect MPS. If you are a new family or existing family with a child with Sanfilippo Syndrome, please register by clicking on the image below, or going to www.ConnectMPS.org.
We Increase Awareness
The compassion of people has amazed us. In five years, more than $5.5 million has been raised by the Foundation. All of it coming from individuals who heard the stories of Sanfilippo families and made the selfless choice to help our kids have a chance at life. More than 40,000 strangers have stepped up in just five years to support the Cure Sanfilippo Foundation, and it’s all because of the awareness raised by Sanfilippo families.
While a rare disease, we refuse for that to mean the diseases stealing our children’s future is ignored. We work constantly, telling our story (for one Sanfilippo family’s story is the reality for all of us).
We Support and Unite Families
We pool our resources. Together, we can accomplish amazing things. We welcome all Sanfilippo families to join our Foundation’s fight to cure this disease. We are open to you if you’re interested in more information about Sanfilippo, more details about where the most promising research stands, best practices we’ve experienced, to participate in fundraisers, or even formally roll up under our Foundation. Just contact us and join the family.
We’ve also partnered with a support site for siblings of terminally-ill children. The siblings have a unique journey of their own, and often have to make significant sacrifices along the way.
One sibling, Grey Chapin, decided to create a website where siblings of terminally-ill kids have a way to connect and tell their story. Grey knows all about the sibling life. Her beautiful sister Blair passed away in 2017 from Sanfilippo Syndrome. Visit The Blair Connection for a place where siblings can connect with one another and find additional support as they experience the challenges of having a terminally-ill brother or sister.
Who Leads and RUNS the Foundation?
- Glenn O’Neill, President
- Katie Walton, VP of Marketing
- Cara O’Neill, Chief Science Officer (half-time)
- Lindsey Shealy, Development Associate
Scientific and Physician Advisors
- Tim Wood, PhD
- Jeffrey D. Esko, PhD
- Jan Nolta, PhD
- Gustavo Maegawa, MD, PhD, FABMG
- Leah R. Reznikov, PhD
Debbie Greenhouse, MD FAAP – Physician Advisor
Elise Drake-Esposito, PhD – Research Projects Coordinator
BOARD OF DIRECTORS
- Daniel Fraley, CPA – Board Chair / Treasurer
- Shelby Leonardi, JD – Secretary
- Faith McAngus
- Valerie Byers, PhD
- Rachael Best
- Benjamin Von Wong
Adam Shaywitz, MD, PhD
- Get to know our partner families that power the Foundation.