What are we doing here at Cure Sanfilippo Foundation?

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. 

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:

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

Resources

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.

• BrainPOP: https://www.brainpop.com
• Khan Academy: https://www.khanacademy.org/

“This shouldn’t happen! Especially not to children.”

But you made the remarkable decision to something to help.

You can see how your donation is helping cure Sanfilippo Syndrome.

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. 

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 Description

Study Contact Information

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.

“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.

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.