Whats Happening

What's happening in the fight to cure Sanfilippo?

"Progress is moving faster than ever before. Children are being treated in clinical trials thanks to funding support. But thousands of kids are still in need, and more breakthrough research can bring a proven treatment and hopeful cure."

Glenn O'Neill, CEO, Cure Sanfilippo Foundation

LOTS HAPPENING. Exciting progress being made.

Research & Grants

Thanks to your incredible support, the Sanfilippo community is pleased to see several potential therapies moving towards human trial. In addition to clinical stage programs, there are several other innovative approaches being developed. With your help these will move into clinical trials for children! 

Review the projects and grants funded by Cure Sanfilippo Foundation.

Fundraising Events

People around the world are hosting fundraising events and peer-to-peer fundraisers to benefit Cure Sanfilippo Foundation’s quest to cure Sanfilippo Syndrome. See what’s coming up that interest you.

See the Events Calendar.

Latest Foundation News

The following are some of the latest happenings at the Foundation. To learn more about how we are working to make and fund progress in the effort to cure Sanfilippo, visit our What We Do page.

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

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.

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

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

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Cure Sanfilippo joins in supporting amendment to manage prescription affordability

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.

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Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo

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.

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Foundation Update – July 2019

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

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

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

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Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

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.

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

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 www.HenryAndBlair.com.

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.

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Foundation Update – April 2019

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.

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Cure Sanfilippo Announces New VP of Marketing

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 People.com 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.

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Saving Carter Campaign Update

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.

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Cure Sanfilippo Funds CRISPR Gene Editing of Neural Stem Cells

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: https://labiomed.org/michelina-iacovino-phd

Link to article on MPSIIIB iPSCs: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076361/

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Jonah’s Just Begun to Join Forces With Cure Sanfilippo Foundation

Jonah’s Just Begun to Join Forces With Cure Sanfilippo Foundation

Cara O'Neill of Cure Sanfilippo Foundation and Jill Wood of Jonah's Just BegunJonah’s Just Begun (JJB) and Cure Sanfilippo Foundation are pleased to announce that they will be joining forces as they move forward with the common goal of finding a cure or treatment for Sanfilippo Syndrome.

Formed as a 501(c)3 in 2011 by Jill Wood and Jeremy Weishaar after their son, Jonah, was diagnosed with Sanfilippo Type C, Jonah’s Just Begun was created to support research, fundraising, and advocacy for treatments for both Sanfilippo Type C and Sanfilippo Type D. Due directly to the work done at JJB, clinical trials for both diseases are on the horizon.

As the Treasurer of JJB, Jill has worked tirelessly to drive innovation and change to further
research for Sanfilippo clinical trials for children. One of her visionary accomplishments was co-founding Phoenix Nest in 2014, a biotech dedicated to finding treatments and cures for Sanfilippo Syndrome, where she currently works as the CFO. Going forward, Jill will retain her role at Phoenix Nest while Jonah’s Just Begun will now fall under the nonprofit auspices of Cure Sanfilippo Foundation. Further, Cure Sanfilippo Foundation will now be a member of H.A.N.D.S. (Helping Advance Neurodegenerative Disease Science), an international consortium of patient groups, scientists, and clinicians that work together to drive the science for Sanfilippo Type C.

Cure Sanfilippo Foundation was founded in 2013 by Glenn and Cara O’Neill after their daughter, Eliza, was diagnosed with Sanfilippo Type A. Cure Sanfilippo was formed with the mission to advocate for and to fund research directed towards a cure and treatment options for patients with Sanfilippo Syndrome. The Foundation has raised $7 Million since inception to advance research and bring clinical trial options for Sanfilippo Syndrome.

Cure Sanfilippo President Glenn O’Neill commented, “We are honored to bring on both Jonah’s Just Begun and all of the support and remarkable history that comes with it. With JJB, we further our scope of research into all 4 types of Sanfilippo Syndrome (A, B, C & D). In the past, Cure Sanfilippo has funded smaller Type C projects and research that could help any subtype, but the focus up to this point has been primarily on Type A and Type B.  This joining of forces is a perfect fit and puts us in a position to make an even bigger impact on the disease.”

Jill Wood commented: “JJB has been driving the research for Types C and D. Now, Types C and D and JJB/H.A.N.D.S. will get a big boost under Cure Sanfilippo Foundation, as they will help take some of our projects we began, to the next stage. We are combining forces to move therapies forward, faster. This is a great day for Sanfilippo.”

Cure Sanfilippo Foundation is a 501(c)(3) not-for-profit organization dedicated to advocating for and funding research directed towards a cure and treatment options for patients with Sanfilippo Syndrome. Sanfilippo Syndrome, also called MPS III, is an inherited disease of metabolism that means the body cannot properly break down long chains of sugar molecules called mucopolysaccharides or glycosaminoglycans (i.e., GAGs). A genetic defect passed on from each parent results in missing or poorly functioning enzymes needed for cells to work normally. Without these enzymes, cells are unable to break down and recycle cellular waste. Over time, this waste builds up causing cells to act abnormally and then to die. Children with this genetic disease face a progressively debilitating and rapid decline in physical and intellectual abilities, leading to an early death.

For more information on the Cure Sanfilippo Foundation and Sanfilippo Syndrome, please visit www.CureSFF.org. Contact Cure Sanfilippo Foundation at curesff@gmail.com.

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Cure Sanfilippo Foundation Funds New Stem Cell Research

Cure Sanfilippo Foundation Funds New Stem Cell Research

Cure Sanfilippo Foundation is pleased to support the work of Dr. Jan Nolta’s lab in collaboration with biotech partner Neuralstem. This project aims to develop an off-the-shelf neural stem cell therapy for patients with Sanfilippo Syndrome (MPS IIIA).

As the Director of the UC Davis Stem Cell Program and Institute for Regenerative Cures, Dr. Nolta brings a wealth of experience and expertise to this project. Prior research conducted by her team has focused on the use of stem cell therapies for Huntington’s Disease, 20+ years of work on lysosomal storage diseases, and involvement in prior clinical trials.

University of California, Davis, conducting research on Sanfilippo Syndrome, MPS III

Dr. Nolta commented, “We are very grateful to the Cure Sanfilippo Foundation and excited to work with Neuralstem to develop a gene-modified neural stem cell therapy for MPSIIIA. The data for retention of the Neuralstem product is compelling and gives us hope that an impact could potentially be made on this heartbreaking disease.”

Neuralstem is a clinical stage biopharmaceutical company developing treatment for neurologic diseases via small molecule and stem cell therapies. Our joint collaboration will enable the gene modification of Neuralstem’s proprietary neural stem cell line and testing of these cells in the immunodeficient MPSIIIA mouse model which was created in the Nolta lab as a part of Cure Sanfilippo Foundation’s previous support.

Neural stem cells (NSCs) are the cells that give rise to neurons and supporting cells(glia) of the central nervous system. The application of NSCs in neurodegenerative disorders such as Sanfilippo syndrome is particularly exciting. Gene modified (to express large amounts of the
deficient enzyme) neural stem cells could address the primary disease mechanism. However, NSCs are special in that they also offer the possibility to restore and support healthy brain tissue in patients.

“The opportunity to address multiple critical needs in this disease with one therapy would be an amazing thing for the children. Since we do not yet have newborn screening or an approved therapy for Sanfilippo syndrome, 99% of those diagnosed are already symptomatic and
experience ongoing brain damage. The ability to positively impact disease progression even after a child is symptomatic is of key importance to families today,” says Dr. Cara O’Neill, Chief
Scientific Officer at Cure Sanfilippo Foundation.

# # #

Cure Sanfilippo Foundation is a 501(c)(3) not-for-profit organization dedicated to advocating for and funding research directed towards a cure and treatment options for patients with Sanfilippo Syndrome. Sanfilippo Syndrome, also called MPS III, is an inherited disease of
metabolism that means the body cannot properly break down long chains of sugar molecules called mucopolysaccharides or glycosaminoglycans (i.e., GAGs). A genetic defect passed on
from each parent results in missing or poorly functioning enzymes needed for cells to work normally. Without these enzymes, cells are unable to break down and recycle cellular waste.

Over time, this waste builds up causing cells to act abnormally and then to die. Children with this genetic disease face a progressively debilitating and rapid decline in physical and intellectual abilities, leading to an early death.

For more information on the Cure Sanfilippo Foundation and Sanfilippo Syndrome, please visit www.CureSFF.org. Contact Cure Sanfilippo Foundation at curesff@gmail.com.

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Cure Sanfilippo Foundation Announces New Board Member

Cure Sanfilippo Foundation Announces New Board Member

Ben Von WongCure Sanfilippo Foundation is thrilled to announce that Benjamin Von Wong has been named as a new Board Member. Benjamin is an artist and creative mind who produces art masterpieces, largely by rallying local volunteers into a united team working toward a shared vision.

Benjamin studied engineering and graduated from McGill University in 2008, with a degree in Mining Engineering. He worked for Golder Associates as an underground mine planning and design engineer. In 2012, he left engineering to turn his passion for photography into a full-time career. Benjamin has since gone on to produce world-renowned epic photography and art that has received critical acclaim and coverage from top media outlets. In recent years, his work has focused on conservation and social change.

Benjamin has been a major part of Cure Sanfilippo Foundation’s mission, starting back in early 2014. As a complete stranger at the time, he answered an email asking for advice on creating a “viral video.” He decided to volunteer his vision and videography skills and
created the 3-minute “Saving Eliza” video and follow-up videos.

These videos went on to raise $2.2 Million in one year, allowing Cure Sanfilippo Foundation to help fund a clinical trial and new cutting-edge research. Benjamin has continued to provide expert marketing advice and support throughout the years for the cause.

In 2018, he co-produced the “Saving Carter” video (www.SavingCarter.com) which raised $1 Million in just 45 days for the Foundation efforts to fund a new clinical trial for children. Benjamin has
had a major hand in the creativity that has helped raise more than half of all funds raised by Cure Sanfilippo Foundation (now totaling over $6 Million).

Benjamin joins eight other Board Members, each with a unique skill set who drive the vision of Cure Sanfilippo Foundation.

Cure Sanfilippo’s President, Glenn O’Neill, commented, “We are very lucky and honored to have Benjamin as an official part of our Foundation. His creative expertise in social media, photography, videography, storytelling, marketing & branding will be a huge asset. In addition, Benjamin’s feedback about various topics on our Foundation throughout the years has been very helpful. Benjamin brings a fresh problemsolving mentality to any challenge and will be a valued addition to our Board.”

# # #

Cure Sanfilippo Foundation is a 501(c)(3) not-for-profit organization dedicated to advocating for and funding research directed towards a cure and treatment options for patients with Sanfilippo Syndrome. Sanfilippo Syndrome, also called MPS III, is an inherited disease of
metabolism that means the body cannot properly break down long chains of sugar molecules called mucopolysaccharides or glycosaminoglycans (i.e., GAGs). A genetic defect passed on
from each parent results in missing or poorly functioning enzymes needed for cells to work normally. Without these enzymes, cells are unable to break down and recycle cellular waste. Over time, this waste builds up causing cells to act abnormally and then to die. Children with
this genetic disease face a progressively debilitating and rapid decline in physical and intellectual abilities, leading to an early death.

For more information on the Cure Sanfilippo Foundation and Sanfilippo Syndrome, please visit www.CureSFF.org. Contact Cure Sanfilippo Foundation at curesff@gmail.com.

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Foundation Update – Spring 2018

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.  

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Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

Cure Sanfilippo Foundation is collaborating with Face2Gene, a suite of digital resources for physicians from FDNA, to populate its Clinic app that uses facial recognition technology to assist in accurately and timely diagnoses of Sanfilippo Syndrome.

One way to determine if different genetic syndromes have distinctly recognizable facial features is by using sophisticated facial recognition software. This distinction could, in time, lead to an earlier diagnosis by medical professionals.

Cure Sanfilippo asked the network of Sanfilippo families that elect to operate under its umbrella to provide facial photos of their children to help create a definition of the facial features for Sanfilippo Syndrome (MPS III) and study the facial features over different ages, genders and ethnicities.

Once sufficient numbers of photos have been submitted, FDNA will run an analysis on the different groups of photos to determine whether there are distinct gestalts and how these gestalts change over time.

Update: In 2018, the information uploaded to Face2Gene was used to create a Natural History of Facial Features Observed in Sanfilippo Syndrome, Type B. The following poster presentations were displayed at the 2018 World Symposium. To download a PDF of the posters, click the image. 

Sanfilippo Syndrome, Type B, (MPSIIIB) facial features observed using next-gen phenotyping tool

 

Distinct facial phenotype for Sanfilippo Syndrome (MPSIII)

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Science & Research News

Updates from entities conducting scientific research into Sanfilippo Syndrome. These updates are not limited to projects supported by the Foundation.

ABO-102 Gene Therapy Preserves Cognitive Development in Young Sanfilippo Children

ABO-102 Gene Therapy Preserves Cognitive Development in Young Sanfilippo Children

Young children with Sanfilippo Syndrome who were treated with ABO-102 gene therapy in the high-dose cohort demonstrated preserved neurocognitive development 12-18 months post treatment. Additionally, the children continued to track within normal age-equivalent development.

Abeona Therapeutics, which is conducting the ongoing Phase 1/2 clinical trial evaluating ABO-102 gene therapy, announced the positive data in late July. 

In its statement, Abeona shared that, “Robust and sustained improvement observed in biomarkers confers additional evidence of a clear biological effect following ABO-102 administration. In addition, longer-term safety remained favorable eight months to two years after treatment.”

Abeona is enrolling eligible patients at sites in the U.S., Spain, and Australia. Read more about the trial enrollment.

Because of donors’ generous support, Cure Sanfilippo Foundation was an initial funder of Abeona’s gene therapy Type A and Type B clinical trials. 

Read this article by SanfilippoNews.com for additional information about the clinical trial. 

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Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo

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.

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Abeona launches website with eligibility survey for its now-enrolling MPSIII clinical trial

Abeona launches website with eligibility survey for its now-enrolling MPSIII clinical trial

Abeona has launched AbeonaTrials.com, a website featuring information about its Transpher A Study clinical trial in Sanfilippo syndrome type A (MPS IIIA). The Transpher A Study currently is enrolling eligible patients as young as 6 months old.

A part of the site is an eligibility survey to see if your child may be able to participate:
https://www.mpstransphera.com/#s3

The following additional information was provided by Abeona regarding its website, its Transpher A Study and Transpher B Study, and how it’s working to spread awareness of them to families with Sanfilippo Syndrome.

Click here or directly on the image for a downloadable PDF.


July 2019 Update from Abeona regarding clinical trial tool and AbeonaTrials.com

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Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

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.

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Sobi Update regarding Sanfilippo Type A clinical trial

Sobi Update regarding Sanfilippo Type A clinical trial

The following letter was released by Sobi on June 24, 2019, regarding its enzyme-replacement therapy clinical trial for Type A.
We continue to communicate and collaborate with the company about the future of the trial, in an effort to continue to help children with Sanfilippo. 

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Creation of Global Clinical Guidelines for Sanfilippo Syndrome

Creation of Global Clinical Guidelines for Sanfilippo Syndrome

Cure Sanfilippo Foundation is leading the development the first-ever Global Clinical Guidelines for the management of Sanfilippo Syndrome in partnership with the Sanfilippo Children’s Foundation (Australia).

Best-practice guidelines for clinical care are critical for both patients and health care professionals in the management of rare diseases where lack of experience and knowledge about a condition often causes late diagnosis and less than optimal management of the condition. Such guidelines allow clinicians 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 care and treatment.

As several promising treatments move into clinical trial, the need for Global Clinical Guidelines has become increasingly important. The international  steering committee for this project includes: Dr. Simon Jones, UK (Chair); Dr. Joseph Muenzer, US; Dr. Chester Whitley, US; Dr. Nicole Muschol, Germany; Dr. Nicholas Smith, Australia; and Dr. Roberto Guigliani, Brazil.

Experts worldwide from all of the disciplines of health professionals involved in the care of children and young adults with Sanfilippo will be invited to contribute content to the clinical management guidelines.

These guidelines will be collated and validated by a wider pool of clinicians and the finalized Global Clinical Guidelines published in a peer-reviewed medical journal towards the end of 2019. Production of a family-friendly version of the guidelines is also planned.

This project is supported by a grant from Global Genes and BioMarin Pharmaceutical

Below: The team aggregated by the Foundation to lead the project.
Global Clinical Guidelines on Sanfilippo Syndrome Steering Committee - February 2018

Update: Read the April 2019 Foundation Update for the latest on the project.

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Caregiver Preference Study for Sanfilippo Syndrome

Caregiver Preference Study for Sanfilippo Syndrome

Team working on Sanfilippo Syndrome caregiver preference studyCure Sanfilippo Foundation is working to publish the first-ever Caregiver Preference Study for Sanfilippo Syndrome. It will include what parents consider “meaningful benefit,” as well as an exploratory staging tool.

The aim of the Caregiver Preference Study is to help inform the selection and development of clinical trial endpoints to reflect desired treatment benefits across the lifespan of children with Sanfilippo Syndrome. 

Our hope is that the publication of these findings further inform key stakeholders, allowing the incorporation of patient voice into the decision making regarding the drug approval process and access. 

Team working on Sanfilippo Syndrome caregiver preference study; Cara O'NeillOur project design for the Caregiver Preference Study incorporates these various stakeholders including industry partners, regulatory, and parents of children with Sanfilippo Syndrome. 

More than 150 caregivers recently completed the quantitative survey and are currently being analyzed. Ongoing study results will be shared via poster presentations and manuscripts, as they become available. 

Outcomes and interim results from our focus groups (the qualitative portion) were shared in a Platform and Poster Presentation at the World Symposium in February 2019, and can be found here:
presentation poster from the WORLD Symposium 2019.

Cara O'Neill presenting Caregiver Preference Study results at world conferenceThis important project has received grant support from BioMarin Pharmaceutical, Lysogene, Sobi, and Orchard Therapeutics.














 

Sanfilippo Syndrome caregiver preference study poster presentation



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Update from Abeona Therapeutics – February 2019

Update from Abeona Therapeutics – February 2019

The following is a message re-published from Michelle Berg, Vice President of Patient Affairs and Community Engagement for Abeona Therapeutics, Inc. To read the message in its original letter form, click here

– – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – 

Hello to the International Leadership in the MPS III Community,

I write to you on this special day that has been designated for the global recognition and deserved focus on those living with or affected by rare disease. This is a wonderful opportunity to bring more light to the everyday impact that navigating the challenges presented by rare disease has, beyond the responsibilities of daily life. Given the focus of our research efforts, rare disease is quite constantly on our minds but providing this additional insight to our team has brought further meaning. Thank you to those who have shared your perspectives with us. The following is an update that comes after continued work with the 9 collaborating foundations for additional studies investigating extended populations of children affected by MPS IIIA and MPS IIIB.

This is a long message with the purpose of providing greater insight into the different MPS III ongoing and planned studies and other updates from Abeona. First, I’ll start with the news that João Siffert, M.D. has been appointed as CEO after serving as the interim-CEO for several months. For the time, he will continue to serve also as head of Research and Development and Chief Medical Officer until those roles can be filled.

Next, I’ll elaborate on items we have shared previously and summarize notable updates for the ongoing and planned studies for the investigation first of MPS IIIA programs and then MPS IIIB.

ABT-001: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA
Our team met with both FDA and EMA regarding the progress to date on ABT-001, and it was decided that the eligibility criteria in ABT-001 Phase 1/2 study will be modified to enroll additional patients with greater function or who have experienced less neurologic decline. The listing in clinicaltrials.gov for this study is now revised with the following modifications. Those interested or with questions should contact their child’s physician to determine eligibility.
  • Inclusion criteria has been adjusted to include Age 6 months to 2 years or children older than 2 years with a minimum cognitive DQ of 60 or above calculated by Bayley Scales of Infant and Toddler Development
  • Total number of anticipated participants adjusted from 16 to 22. This means we are continuing enrollment across sites for a total of up to 8 more participants in Cohort 3.
  • Study completion date changed to Dec 2021 (from Dec 2020) to account for additional participants
  • Exclusion criteria has been modified to account for:
    • Previous treatment by HSCT or participation in gene/cell therapy or ERT clinical trial
    • Any vaccination with viral attenuated vaccines less than 30 days prior to scheduled date of treatment
    • Subjects with positive response for the ELISPOT for T-cell responses to AAV9
  • In addition to a primary outcome of safety, the change from baseline in the Age Equivalent Developmental Score (MSEL or Kaufman) compared with natural history study data will be measured
  • Additional secondary outcomes have been incorporated which include:
    • Change from baseline in the Cognitive Age Equivalent compared to natural history study, calculated using Bayley Scales of Infant and Toddler Development
    • PedsQL total score
    • Parent quality of life, using a tool called the Parenting Stress Index
    • Analysis in plasma, saliva, urine, feces of vector shedding
  • For outcomes already listed on ct.gov – change to 24 month timeframe (currently lists 12 months)

ABT-003: Additional Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA and have further disease progression
As a result of the changes outlined above, we have adjusted the additional planned trial, ABT003, to complement ABT-001 and to investigate the effects of ABO-102 in eligible patients with more progressed or increased neurological impact of the disease.
  • Enrollment criteria to complement upper limits for ABT-001 for no eligibility gap between these two studies
  • Inclusion/exclusion criteria and number of participants are not yet available for release
  • Protocol submission to regulatory agencies is imminent for Spain, Australia, and the United States
  • In parallel, preparations with sites in Spain, Australia, and the United States are well underway and will be limited to these countries
  • Currently, it’s not certain which country will be ready first but we will not wait for all three to initiate enrollment
  • More information will be provided as available
ABT-002: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIB
This study is still early with participants with safety as the highest priority followed by getting data to inform on dose. There have been recent updates to the clinicaltrials.gov listing for this study, summarized below:
  • Updated Responsible Party and main contact as Abeona
  • Added exclusion criterion of treatment with prior ERT
  • Modified age criteria for enrollment to 6 months and above
  • Removed secondary endpoint of change in brain volume by MRI
  • Added Spain as an active clinical site
  • Efforts continue to initiate sites in UK, Germany, and France
Thank you again, as I realize this is a large amount of information. Lastly, I’ll be using this format for sending group emails in order to provide people with the option to unsubscribe should they choose to no longer receive updates from Abeona.

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Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

Cure Sanfilippo Foundation is collaborating with Face2Gene, a suite of digital resources for physicians from FDNA, to populate its Clinic app that uses facial recognition technology to assist in accurately and timely diagnoses of Sanfilippo Syndrome.

One way to determine if different genetic syndromes have distinctly recognizable facial features is by using sophisticated facial recognition software. This distinction could, in time, lead to an earlier diagnosis by medical professionals.

Cure Sanfilippo asked the network of Sanfilippo families that elect to operate under its umbrella to provide facial photos of their children to help create a definition of the facial features for Sanfilippo Syndrome (MPS III) and study the facial features over different ages, genders and ethnicities.

Once sufficient numbers of photos have been submitted, FDNA will run an analysis on the different groups of photos to determine whether there are distinct gestalts and how these gestalts change over time.

Update: In 2018, the information uploaded to Face2Gene was used to create a Natural History of Facial Features Observed in Sanfilippo Syndrome, Type B. The following poster presentations were displayed at the 2018 World Symposium. To download a PDF of the posters, click the image. 

Sanfilippo Syndrome, Type B, (MPSIIIB) facial features observed using next-gen phenotyping tool

 

Distinct facial phenotype for Sanfilippo Syndrome (MPSIII)

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A great resource for the latest in science and research regarding Sanfilippo, visit www.SanfilippoNews.com. The site provides the latest information and presents it in a format that families can easily understand.

Information about global research

For information about research beyond those funded by the Cure Sanfilippo Foundation, visit these links:

How we push for progress

To learn more about how we are working to make and fund progress in the effort to cure Sanfilippo, visit our What We Do page.

CURE SANFILIPPO POSTER PRESENTATIONS

Poster 1 :  Creation of facial gestalt for patient identification in Face2Gene facial recognition app.  Click image below or view the poster here: MPSIII Facial Phenotype Poster Final-WORLD 2018





Poster 2 :  Our research in collaboration with FDNA has highlighted the facial natural history of patients with Sanfilippo Syndrome Type B, MPSIIIB. The facial recognition tool was able to identify children with MPSIIIB accurately as young as 1-3 yrs of age.  This suggests that the Face2Gene app may be beneficial in identifying patients at risk for MPSIIIB based on their facial features  Click image below or view the poster here:  MPSIIIB Facial Natural History Poster Final- ACMG April 2018




Poster 3 :  Caregiver Perceptions about the accuracy of Cognitive testing in children with Sanfilippo syndrome (MPS III). Click image below or view the poster here:  MPSIII Caregiver Perceptions about Cognitive Testing Poster Final – WORLD Symposium 2018




Poster 4 : To help researchers, the U.S. Food and Drug Administration (FDA), drug companies, and doctors investigating Sanfilippo Syndrome better evaluate meaningful change and benefit from treatments, 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 collected, 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 best align research end-points.

A poster presentation on the project was given at WORLDSymposium™ 2018.

Click on the image below or here to view the poster.

Sanfilippo Syndrome caregiver preference study poster presentation

Cure Sanfilippo Foundation

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

curesff@gmail.com

P.O. Box 6901
Columbia, SC 29260

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