Caregiver Preference Study for Sanfilippo presented to FDA

The urgent mission to save children from the fatal and rapidly-degenerative disease Sanfilippo Syndrome must continue because the disease’s devastating effects never stop, no matter what else is happening in the world. 

With this mindset, Cure Sanfilippo Foundation and the U.S. Food & Drug Administration (FDA) carried on with a planned meeting on March 20.

The meeting was originally scheduled to be in-person at the FDA’s offices in Washington, D.C. It was pivoted to a WebEx meeting to follow best practices in lessening the global spread of Coronavirus. More than 20 officials from the FDA’s Center for Biologics Evaluation and Research (CBER) and Center for Drug Evaluation and Research (CDER) participated.

Photo from online meeting to discuss findings of first-ever Caregiver Preference Study for Sanfilippo Syndrome with FDA's CBER and CDER

The meeting focused on the results of the first-ever Caregiver Preference Study for Sanfilippo Syndrome, which represents the input of 219 caregiver parents. 

The meeting highlighted, based on the Foundation-led study, the need to include non-cognitive based endpoints when evaluating therapies for Sanfilippo, particularly for children over 2 years of age.

Additionally, the importance and value to caregivers of improving a child’s quality of life was emphasized with the CDER and CBER officials.

“Some quality of life improvements often cannot be measured via traditional IQ tests or other tests being used, explained Foundation Chief Science Officer Cara O’Neill, MD, FAAP. “Things like the ability to swallow, the ability to walk, the ability to sleep through the night, pain and distress … the study showed that these all matter greatly to a parent.”

There was a good deal of agreement from the group on the findings of the study.

“CHANGE is coming thanks to those who participated in the meeting, as well as the many parents who participated in the study and the generous supporters of the Foundation that enable work like this to continue,” said Foundation President Glenn O’Neill. “Thank you, thank you!”

Thank you to Dr. Maria Escolar, RTI International, and Elise for important input and participation in the meeting. Thank you to all the parents who participated in the study, as well as the parents on the study steering committee.

Learn more about the Foundation’s Caregiver Preference Study for Sanfilippo Syndrome. If you have questions, contact Dr. O’Neill at

Information on Coronavirus & people with chronic medical conditions

Parents of children with Sanfilippo Syndrome are already managing a complex medical condition, which can be further complicated by illnesses. 

The Center for Disease Control has compiled a list of resources about COVID-19 for people managing their own or others’ chronic medical conditions.

The information aims to address questions patients and caregivers may have about FDA-regulated medical products (drugs, biologics, devices), clinical trials, and COVID-19.

Visit the CDC’s resource page.

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

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.

Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome

Cara O'Neill and Elise Drake, poster presentation at WORLD Symposium 2020At the WORLD Symposium 2020, Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, FAAP, and Research Projects Coordinator Elise Drake, PhD, gave a poster presentation entitled “Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome,” on a subset of the findings from the Foundation’s larger Caregiver Preference Study.

The poster presentation reported survey results on caregiver priorities for meaningful treatment benefits for Sanfilippo Syndrome. It drew heavy interest from the patient advocates, scientists, NIH and FDA staff, and industry partners in attendance.

Parent Prioritization 2.7-Handout-PDF image
(as a printable .PDF file)


The study used the following methods:
  • A Best-Worst Scaling (BWS) case 1 experiment was conducted via an online survey of caregivers of children with Sanfilippo syndrome.
  • BWS methodology elicits preference weights for different attributes—in this study, features that represent the impact of Sanfilippo syndrome. Features were selected based on previous qualitative research which identified highly-valued treatment targets of Sanfilippo caregivers.
  • Participants completed 12 choice sets to select features that they considered most- and least-important to address in the context of a non-curative therapy. Figure 1 depicts an example of a BWS choice set item.
  • Subgroup analysis was conducted based on child’s age and caregiver ratings of their child’s disease-specific symptoms. Log-odds importance weights were estimated using random-parameters logit for age group (6 or younger vs 7 or older) and stage (early/mid vs later) based on symptom progression. Due to small sample sizes for Sanfilippo syndrome subtypes C and D, only simple scores (i.e., best-worst scores) were calculated for sub-type analysis. Cluster analysis allowed for estimates of a child’s disease stage based on a combination of caregiver-reported cognitive ability, self-feeding ability, and autistic behaviors. 


The poster reported the following results based on insights from 164 caregivers of children and adults with Sanfilippo syndrome from 14 different countries who completed the Best-Worst Scaling item sets.

BWS Results by Child’s Age:
  • Across both age groups, features with highest importance weights were having pain and unsafe behaviors.
  • Hyperactivity and communicating “no” were significantly more important for caregivers of younger children. Trouble getting around, sleep, and unsafe behaviors were significantly more important for caregivers of children aged 7 and older.
BWS Results by Disease Stage:
  • Pain and unsafe behaviors remained the most prioritized features across stage of disease.
  • Caregivers of early/mid-stage children were significantly more likely to prioritize aggressive/impulsive behaviors, paying attention, feeling frustrated, and following directions than caregivers of later stage children.
  • Caregivers of later-stage children prioritized trouble getting around, worry/anxiety, sleep, and sharing feelings, significantly more than caregivers of early/mid-stage children.
BWS Results by Disease Sub-Type:
  • Simple scores reveal caregivers of children with Type A and B similarly prioritized having pain, unsafe behaviors, and feeling unwell.
  • For Type C, caregivers prioritized aggressive/impulsive toward others, not enough sleep, and having pain.


Caregivers’ relative treatment priorities reinforce the multi-symptom impacts of Sanfilippo syndrome.

The top set of prioritized features span several domains:
  • Health: pain, sleep, and feeling unwell
  • Behavioral: hyperactivity, unsafe and aggressive/impulsive behaviors
  • Motor: trouble getting around
  • Communication: communicating “no” and sharing feelings back-and-forth
Pain and safety, two areas important to child and family quality of life, were most prioritized. Though there were differences by age and severity that reflect the child’s changing needs and function as the condition progresses, overall caregivers’ priorities for disease stage features were fairly consistent.

Additional research targeting the rarer subtypes C and D may elucidate whether there are distinct treatment priorities of those caregivers.

This study provides insight into caregivers’ treatment priorities that will help inform development of therapeutics. Results here indicate that targeted, non-curative therapies that extend beyond global cognitive ability are highly valued by caregiver participants.
(as a printable .PDF file)

Cara O'Neill with Tiina K. Urv, PhD, Program Director for the NIH's Office of Rare Diseases Research

Cara O’Neill of Cure Sanfilippo Foundation with Tiina K. Urv, PhD, Program Director for the NIH’s Office of Rare Diseases Research.

 Cara O'Neill poster presentation at WORLD Symposium 2020


The Foundation is grateful to the parents of children with Sanfilippo syndrome for participating in this study. Additional thanks to the Foundation’s Advisory Committee for its valuable input and to BioMarin, Lysogene, Sobi, and Orchard Therapeutics for their kind funding support.

Contact Us

If you have questions about the Parent Prioritization of Meaningful Treatment Targets presentation, contact Dr. O’Neill at

“Hope is love on a mission,” says Dr. O’Neill in acceptance speech

“There is no such thing as ‘false hope’. Hope Is LOVE ON A MISSION!”

Cara O'Neill with 2020 Patient Advocate AwardCure Sanfilippo Foundation’s Chief Scientific Officer Cara O’Neill, MD, FAAP, made powerful remarks before the audience of patient advocates, scientists, and industry partners as she accepted the international Patient Advocate Leader award at the WORLD Symposium 2020 on Feb. 11. She spoke about the power of hope and declared that there is no such thing as “false hope.”

In introducing O’Neill, a pediatrician who has worked in private practice and academic settings and mother of a daughter with Sanfilippo Syndrome, emcee Dr. Chet Whitley noted, “Her uniquely-paired career and life experience have allowed her to bridge gaps between scientists and clinicians, and even industry and families, helping foster patient-centered research and translational paths forward for rare diseases.”

He went on to say, “Guided by the mission to support creation of treatments and eventual cure for the disease [Sanfilippo Syndrome], she has persisted and been a force in the field … Thank you for what you do, and don’t stop!”

Taking the stage to accept the honor, O’Neill first thanked the community who together work in making advances for rare diseases and recognized the patients and their families that are the ultimate mission. 

“It’s really, really such an honor to be recognized among so many amazing advocates that I continue to learn from every day,” said O’Neill. “And among the neuron of this entire conference: the children, the patients, and the parents in the room with very special children. For me, it’s my daughter Eliza.”

She shared how the WORLD Symposium played a significant role in the Foundation’s founding.

“The WORLD Symposium, this collection of brilliant scientists and clinicians will always be a part of our beginnings at Cure Sanfilippo Foundation. 

“After our daughter Eliza was diagnosed with MPS III A about seven years ago, this was the first meeting my husband and I went to. We came to get immersed in science and meet the leaders in the field. And it was a critical first step.”

The came away from the meeting with an important question.

“And to be honest, at the time in 2014, we left the meeting feeling like, ‘Why are so few people talking about Sanfilippo’?”

O’Neill and her husband, Glenn O’Neill, President of Cure Sanfilippo, used this realization to take action.

“I’m not sure exactly what we expected at the time, but it lit a fire under us to get moving, to serve things up, to raise up the cause for Sanfilippo to anyone that would hear it. And through our Foundation efforts, many people were willing to hear it.”

And their efforts had wider reaching impact than they ever could have predicted.

“We never imagined Sanfilippo and our family would be featured on the Today Show, The Doctors TV show, People magazine, media stories around the world.

“And as if ‘rare disease life’ isn’t bizarre enough, we got to share our wild Sanfilippo story on Inside Edition,” she shared with a chuckle.

Their efforts and willingness to speak turned into action.

“But with a lot of help, we were starting to see more and more people now talking about Sanfilippo. In that time, millions of dollars had been raised thanks to families just like us around the country, around the world. Critical dollars to fund Sanfilippo research leading to many meaningful collaborations and advances. All striving for an effective and ultimately approved treatment for all children.”

The wave of action turned into results, into science that is testing possible therapies for Sanfilippo Syndrome right now.

“Today, seven years since my first WORLD meeting, it’s a bit surreal to look back and see how much work has taken place in those years. There are now seven therapies for Sanfilippo Syndrome in clinical trials right now and much more science coming along the pipeline that really amazing. It’s remarkable to think that all these trials are happening.”

Despite the years, O’Neill never forgets the initial feelings that drove her and Glenn to the conference.

“But being here today, also takes me back to those early days, especially when I meet families like the Barrises and Grace Kerns; I meet those families who are here for the first time. It takes me back – maybe a little too much,” she said with emotion thick in her voice.

“It takes me back to that utter panic and desperation to do whatever needs to be done to fill in the gaps, to create the right partnerships, and find a way forward to some sort of lifeline for these children. 

Her work with the Foundation, scientific and clinical community, and industry are an outlet for those feelings. 

“The past seven years have given me such privilege to work with so many like-minded advocates, Sanfilippo families, researchers, and industry partners who are all trying to move the needle forward. And that helps give me purpose in this tragedy.”

She praised her family for the support and perspective that they provide her. 

“I’m lucky also to have a true partner in this work and this ‘rare life,’ and this recognition is as much my husband Glenn’s as it is mine. And also my amazing children, Beckham and Eliza, who show me beautiful really is, despite the heartbreak this disease can bring.”

Then she spoke powerfully of hope, sharing words that press people to never give up hope because it is what drives action. And, most importantly, that all hope is valuable.

“My family and this community show every day that ‘hope’ is an action. It is being willing to work toward what might seem impossible. It’s about vision and perseverance.”

“You see, there is no such thing as ‘false hope.’ Because hope is not conditional upon an outcome. Hope is actually just love on a mission!”

She closed by again voicing her heartfelt thanks for the others in the room.

“Thank you all for what you do and for this honor.”

Her remarks received a standing ovation from the audience of patient advocates, scientist, and industry professionals.

Yahoo! Finance features Foundation’s Chief Science Officer

Headshot of Dr. Cara O'NeillCure Sanfilippo Foundation’s Chief Science Officer Cara O’Neill, MD, FAAP, is at the WORLD Symposium 2020 in Orlando, FL, this week to make an important presentation about an innovative way to approach recording and measuring disease hallmarks post-gene therapy using video-based technology. 

The PROVide Study uses video capture technology to monitor daily living, motor skills, and events, such as details regarding seizure frequency and length, sleep, stooling, and irritability/agitation. An additional layer of innovation in this study is the use of wearable devices to record additional data.

Her presentation was included in a recent Yahoo! Finance article.

Additionally, O’Neill is being awarded the Patient Advocate Leader of the Year at the WORLD Symposium. An honor that recognizes an individual for their direct contribution to lives of patients and families dealing with a lysosomal disease through disease awareness and education, community mobilization, non-profit development and/or good governance activities, patient care, and support programs.

To learn more about the PROVide Study, contact the Foundation at

Cure Sanfilippo advocates for open access to tax-funded research

Cure Sanfilippo Foundation joined 72 other patient- and disease-advocacy organizations in voicing support for a strong national Open Access policy that would guarantee immediate, free access to and full reuse of the results of scientific research that our tax dollars support in a joint letter to the Trump Administration.

The letter urged the Administration to issue a policy that eliminates the current 12-month
delay on articles access, and to ensure that articles and supporting data resulting from
taxpayer funded research be made immediately available under terms and conditions that
allow their full reuse. 

The U.S. government funds more than $60 billion in scientific research each year on behalf of the public. Making sure that the results of this research are readily accessible to all citizens will speed the pace of scientific discovery, spur innovation, and, most importantly, give patients and their families hope of finding cures to rare and currently untreatable diseases.

Read the full letter here.

The letter was coordinated by Genetic Alliance, a group that engages individuals, families, and communities to transform health.

Foundation sets ambitious plan for next three years: 5 clinical trials, 100 children

Cure Sanfilippo Foundation has an ambitious plan for the next three years:

5 clinical trials, treating 100 children, to prove at least 1 effective treatment

Amazing things have happened in the six years since the Foundation was created because of the generosity of tens of thousands of people and the hard work of families and friends of children with Sanfilippo around the world. 

So much progress toward a cure has been made. But there still isn’t an approved treatment or cure at this time. Yet.

We have an ambitious plan to bring more clinical trials to children in the next three years. AND YOU CAN HELP MAKE IT HAPPEN.

The Three-Year Plan:

By driving the pace of science, we will find a cure in this lifetime.

The remarkable support, progress, and need inspired the Foundation to create an audacious plan for the next three years. Because the supporters and families have proven that achieving bold goals is possible.

Clinical trials are where the rubber meets the road, scientifically. It’s the crucial step of determining
whether earlier research is able to show the same therapeutic benefits in people.

Three-Year Plan - Element - Image Three-Year Plan - Element - Image Three-Year Plan - Element - Image

There are no shortcuts in science.

A cure requires significant resources. The daring price tag for this initiative is $10 million.

It’s a big goal. But it can happen with support.

Despite these dramatic costs, Cure Sanfilippo Foundation is finding
innovative and collaborative ways to support and conduct clinical trials, as
well as research.

These strategies make your donations go further. It makes $10 million help even more children, and with an effective treatment, potentially thousands.

The Future You Give Back

With a cure, families like these can dream of the future again.

The Burroughs Family The O'Neill Family

How You Can Help

Your support, now and tomorrow, gives children the chance at life.

Every donation is deeply appreciated. And a multi-year commitment ensure the Foundation can achieve this plan to bring about these clinical trials in three years.

Donate Now button

About the Foundation

Cure Sanfilippo Foundation leads in driving research to accelerate discovery of a cure for Sanfilippo Syndrome.
In just six years, generous donors like you have enabled Cure Sanfilippo to generate more than $8 million through grassroots and viral fundraising to support and/or architect 20+ research projects globally, including several clinical trials.
The Foundation’s exceptional thought-leadership enables us to chart a progressive course to find a cure.

Foundation-supported Anakinra clinical trial listed as “recruiting”

As a collaborator on this study, Cure Sanfilippo Foundation is thrilled to announce the MPSIII (Sanfilippo) Anakinra clinical trial is now listed as “recruiting” on

This is an option for any Type of Sanfilippo (A, B, C, D).

Read the full listing at

Study Description

Inflammation has been connected with disease pathogenesis in the MPS disorders. Therapies aimed at decreasing inflammation are currently being studied in many MPS disorders and benefits in both brain and other parts of the body have been reported.

Decreasing interleukin-1 (IL-1) in an animal model of MPS III showed benefits in brain disease and behavior. Thus, we think that Anakinra (Kineret), which decreases IL-1 levels in the body, will improve behavioral and other problems in children with MPS III.

The expected potential direct benefits include, but are not limited to, improved behavior, sleep, stooling, communication, mood, and gait; as well as decreased seizure frequency, disordered movement, and fatigue.

However, there is no guarantee that participants will get any benefit from being in this study.

Study Contact Information

If interested, please contact the Clinical Trial site, Lundquist Institute (formerly LA Biomed). All contact details can be found at link below.

If you have any questions for the study collaborator, Cure Sanfilippo Foundation, e-mail

Cure Sanfilippo Foundation

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

P.O. Box 6901
Columbia, SC 29260