“5 Things to Know” is a new, quick digest from Cure Sanfilippo Foundation of five things especially relevant to the Sanfilippo Syndrome community. We are going to send these regularly to keep you updated and put information and resources at your fingertips.
1. Sanfilippo community at the table for encouraging meeting with acting FDA leaders
Last week, FDA Acting Commissioner Kyle Diamantas, along with CBER and CDER Directors, the Rare Disease Innovation Hub Director, and other agency leaders, hosted a closed-door meeting with representatives from the rare disease community. The fact that the acting commissioner has prioritized speaking directly with rare disease advocates shows a positive shift at the agency under his leadership. As Commissioner Diamantas said, “This represents a reset and a recommitment to rare disease.” Agency leaders discussed their shared desire for regulatory adaptability, with a focus on applying strategies that are best suited to each situation, rather than a one-size-fits-all approach, as well as recognition that patient-experience data provides a meaningful source of evidence.
Dr. Cara O’Neill and Jessica Haywood from the Foundation were among advocates of 15 rare disease organizations invited to attend and speak. Cara kicked off the meeting’s comments by sharing the Sanfilippo story and the profound impact that extended development and regulatory timelines have on children with Sanfilippo and those with progressive neurodegenerative diseases. She requested the agency’s urgent attention to therapies currently under review and in late-stage development. Cara also emphasized the importance of FDA product labeling that enables broad access to therapies, surrogate biomarkers, patient-informed benefit-risk assessment, and enhanced opportunities for patient and caregiver engagement with FDA throughout the drug-development lifecycle.
All of the tireless advocacy work by you, the Foundation, and many other rare disease patient communities and organizations over the past year has helped bring about this positive change and opportunities to engage directly with the leadership making decisions about therapies for our children. Together, we are making a difference!
2. What you might not be aware of behind the scenes that makes treatment opportunities happen
You’ve seen the public updates regarding the Expanded Access (EA) program for TA-ERT for Sanfilippo Type B, but we wanted to also share some of the “invisible” work that the Foundation/Cara does across this and numerous other programs to facilitate moving into clinical trial and with a patient-centered focus as soon as possible.
Most recently, Cara has been working extensively to support engagement with various stakeholders with the aim of accelerating the time to begin enrollment. This work requires extensive coordination and collaboration with physicians, academic centers, industry teams, and other partners regarding connecting expertise and resources, patient-centered clinical trial and protocol design, and practical matters of implementation that are important to keep things moving forward. And while this work isn’t widely visible, it’s a key part of the effort to help bring trials and treatments to children as quickly as possible.
Additionally, this type of work is not unique to the EA Program. In fact, Cara regularly engages in these efforts with researchers, biotechs, and clinicians regarding early-stage research, translational research, clinical trial design and protocol, and FDA interactions across the subtypes of Sanfilippo. This work happens quietly and largely out of public view, but it’s a critical part of the Foundation’s work to accelerate the most promising and viable treatment opportunities so children with Sanfilippo are provided the chance for healthier and happier days.
3. Connect in person with other Sanfilippo families at Family Gatherings
Just last weekend, families came to the Chicago area for the Foundation’s latest Family Gathering. As always, it was a wonderful handful of hours among people who truly “get” life with Sanfilippo. So far, the Foundation’s Family Gatherings have brought together 80 families and 330+ members of the Sanfilippo community. These days together are always filled with lots of hugs, smiles, and “Yes! Us, too!” moments.
More Family Gatherings are being planned for 2026 and beyond and you are invited to come! Reach out to Lindsey at Lindsey@CureSanfilippoFoundation.org for dates and locations of upcoming gatherings as the details are set.
4. Adding horsepower to expand Foundation’s research impact
More therapeutic approaches to treating Sanfilippo Syndrome are emerging than ever before. Researchers around the world are exploring gene therapies, enzyme replacement approaches, small molecules, and other innovative strategies. These opportunities need as much attention and dedication as possible, so the Foundation is expanding its scientific team working alongside Cara in order to expand our reach. This means even more time spent working directly with researchers, even more attention devoted to Foundation-funded grant opportunities, and even greater ability to support innovative projects that could become tomorrow’s therapies.
A handful of first-generation treatments are at or approaching the FDA approval review stage, bringing tremendous hope. (Everyone has fought so hard to get here.) But we expect that children with Sanfilippo will likely need multiple therapies throughout their lifetimes to provide the best long-term health. Therefore, the Foundation works to cultivate a continuous and robust pipeline of next-generation and combination treatments through our ever-growing network of research collaborators and grantees. We are excited to expand the Foundation’s ability to do the critical work in evaluating and pursuing the most-promising scientific avenues that could lead to longer, healthier lives for children affected by Sanfilippo Syndrome.
5. Early changes in brain cell communication show hyperactivity; what it means for families
A new study published in Nature Communications provides important insights into how Sanfilippo Syndrome affects communication between brain cells. Cara is a co-author on this publication and is proud to continue the Foundation’s long-standing collaborations with these esteemed researchers and advocacy groups in Australia.
Using stem cells donated by individuals with Sanfilippo A, researchers created human neuronal networks and found that brain cells developed abnormally “hyperactive” patterns of communication over time as they matured. Electrophysiology experiments suggest that an imbalance in brain signaling may contribute to many of the neurological and behavioral symptoms experienced by individuals with Sanfilippo Syndrome, including hyperactivity, impulsivity, sleep disturbances, and autism-like features. These findings correlate with previous foundational electrophysiology work in the mouse model, funded by Cure Sanfilippo Foundation.
Establishing this correlation between animal and human model systems is so important because it allows us to more easily translate potential therapies toward human trials. Other model systems have also explored nerve cell communication in Sanfilippo B and C using different methods, but an overarching finding is that all systems show that impaired synaptic (nerve cell cross-talk) function happens before nerve cells are destroyed. This work helps deepen our understanding of the mechanisms involved in Sanfilippo Syndrome future therapeutic targets. Read the new study article:
https://pmc.ncbi.nlm.nih.gov/articles/PMC13057175/pdf/41467_2026_Article_71112.pdf