Cure Sanfilippo Foundation

Children and their families miss out on so many experiences and opportunities that most people take for granted because of Sanfilippo Syndrome. Things like vacations, trips to the store, or a local high school basketball game on Friday night take intense planning and adaptions/accommodations, come with looks and judgement from people, and can involve setbacks and letdowns for families with Sanfilippo. So much so, that often, it’s easier to just stay home and stick to the routine. When the Shamaly family was invited on a ski vacation, they really didn’t know whether it would even be possible. But they courageous decided to try and “to keep expectations really low.” Little did they know that their bravery resulted in an amazing experience for their family. Josephine shares how an adaptive skiing program allowed 10-year-old Ellie to enjoy so many of the touchstone experiences of skiing – riding the ski lift, going on multiple runs down the mountain, and even jumps! (They had such a great time last year that Josephine took ski lessons all winter so she could join Ellie, Kerry, and her son out on the slopes for this year’s trip back.) Most importantly, Josephine hopes that their experience encourages others to consider stepping out of their comfort zone and give things a try. #lifewithsanfilippo #curesanfilippo P.S. A moment to recognize Smugglers' Notch Resort in Vermont for having an amazing winter adaptive skiing program that is carefully tailored to each participant’s unique needs and goals, enabling more children and families to enjoy the sport of skiing and snowboarding.?

Deadline this Friday: Cure Sanfilippo Foundation is accepting Letters of Interest (LOIs) through this Friday, March 28, for its ADVANCE Sanfilippo Scientific & Clinical Research Program. Cure Sanfilippo Foundation supports research across basic and translational science, clinical care, and therapeutic interventions, including clinical trials. Our overarching goal is to advance a pipeline of scientific discovery which will improve the lives of individuals with all forms of Sanfilippo syndrome. Deadline to Apply: Submit your LOI using the ProposalCentral platform by 11:00 p.m. ET on March 28, 2025. After review, selected LOIs will be invited to submit a full proposal. For more information on this current funding opportunity and priority research areas, link to submit an LOI, and to view sample forms, visit https://lnkd.in/dzXJjaH. For additional questions or to discuss your research idea with our CSO, Dr. Cara O'Neill, please contact us at [email protected].

How can horseback riding integrate PT, OT, and speech therapy? What are its benefits for a child with Sanfilippo Syndrome? What should you look for in a hippotherapy provider? What is the difference between equine therapy, hippotherapy, and therapeutic riding? Find out during the April 8 session of Sanfilippo Speak, the Foundation’s family support webinar series that provides Sanfilippo-specific insights around pivotal topics. Two seasoned hippotherapy providers will explore hippotherapy as a modality for individuals with Sanfilippo and discuss the differences between hippotherapy and therapeutic riding and their benefits. Sanfilippo Speak is open to anyone who would find the information valuable. There is no cost to attend or registration required. Use the following Zoom link on April 8 at 12:30 p.m. EDT to join: https://lnkd.in/gtCm2mhN A recording of the webinar will be available on the Sanfilippo Speak page of the Foundation’s website afterward for on-demand access. Photo courtesy of the Ormeroid family

On a normal day, a lot of planning, gear, and accommodations are needed to keep a child with Sanfilippo Syndrome safe and thriving. These children also thrive on routine and struggle with disruption to it. And then there are the tremendous activity levels, sensory needs, and frequent sleep disturbances, caused by Sanfilippo, to manage. Now imagine taking that on the road. It’s a challenge for families of children with Sanfilippo to go on vacations and adventures. But many families still do! Thanks to lots of careful planning and learning along the way. The Willich family shares how they managed things for their Make-A-Wish trop, the lessons they learned, and the tips they have for traveling for a Make-A-Wish or another other trip away from home. They are generously sharing their experience to help others get a glimpse at life with Sanfilippo. Life with Sanfilippo Syndrome presents unique challenges to every aspect of life. Families of children with Sanfilippo Syndrome are generously sharing how they tackle an aspect of their life to ensure their child has the best care and quality of life. #lifewithsanfilippo #curesanfilippo

Come grocery shopping with the Doucette family of Saskatchewan, Canada! Find out how they navigate grocery shopping so that 5-year-old Emmett, who has Sanfilippo Syndrome Type A, can be a part of this weekly chore. Hear why it’s important that they be together as a family, what strategies Steph and Andre use to keep Emmett safe and included, and how Emmett likes to make these trips a bit exciting. Life with Sanfilippo Syndrome presents unique challenges to every aspect of life. Families of children with Sanfilippo Syndrome are generously sharing how they tackle an aspect of their life to ensure their child has the best care and quality of life. #lifewithsanfilippo #curesanfilippo

Reminder: Cure Sanfilippo Foundation is accepting Letters of Interest (LOIs) through March 28 for its ADVANCE Sanfilippo Scientific & Clinical Research Program. Cure Sanfilippo Foundation supports research across basic and translational science, clinical care, and therapeutic interventions, including clinical trials. Our overarching goal is to advance a pipeline of scientific discovery which will improve the lives of individuals with all forms of Sanfilippo syndrome. Deadline to Apply: Submit your LOI using the ProposalCentral platform by 11:00 p.m. ET on March 28, 2025. After review, selected LOIs will be invited to submit a full proposal. For more information on this current funding opportunity and priority research areas, link to submit an LOI, and to view sample forms, visit https://lnkd.in/dzXJjaH. For additional questions or to discuss your research idea with our CSO, Dr. Cara O'Neill, please contact us at [email protected].

Cure Sanfilippo Foundation Chief Science Officer and Co-Founder?Cara O'Neill O’Neill, MD, FAAP, will be a speaker at American Society of Gene & Cell Therapy’s (ASGCT) Empowering Patients 2025: A Cell and Gene Therapies Summit in March. O’Neill will join Terry Flotte, MD, University of Massachusetts for the “When Innovation Stumbles and Pathways Forward” session on March 12. The session will explore the state of commercially pre-viable therapies (sometimes referred to as “dropped” or “discontinued” trials). O’Neill will offer the perspective of a patient advocate on why this happens and potential solutions. The Empowering Patients 2025 summit is an inaugural digital event, March 12 & 13, 2025, to provide timely education and engaging discussions on cell and gene therapies (CGTs). In alignment with ASGCT’s strategic plan, the goal is to empower advocates, patients, and caregivers who are vital in developing treatments. Attendees will hear from experts in the CGT field, as well as patient advocacy group leaders. There will be opportunities to ask questions and deepen your knowledge of the community’s CGT journey. Registration for ASGCT’s Empowering Patients 2025 is free.?See the full agenda and/or register: https://lnkd.in/gNchxqcG

Another exciting step towards a first ever drug approval for children with Sanfilippo type A! On Feb 18, 2025, Ultragenyx announced the FDA has accepted its application seeking accelerated approval for UX111 (ABO-102) AAV gene therapy as a treatment for Sanfilippo syndrome type A (MPS IIIA). The FDA granted the BLA Priority Review with a Prescription Drug User Fee Act (PDUFA) action date of August 18, 2025. No advisory committee meeting is anticipated by the FDA at this time. Read the press release from Ultragenyx: https://lnkd.in/gqngntK3

Cure Sanfilippo Foundation is now accepting Letters of Interest (LOIs) for its ADVANCE Sanfilippo Scientific & Clinical Research Program Cure Sanfilippo Foundation supports research across basic and translational science, clinical care, and therapeutic interventions, including clinical trials. Our overarching goal is to advance a pipeline of scientific discovery which will improve the lives of individuals with all forms of Sanfilippo syndrome. Deadline to Apply: Submit your LOI using the ProposalCentral platform by 11:00 p.m. ET on March 28, 2025. After review, selected LOIs will be invited to submit a full proposal. For more information on this current funding opportunity and priority research areas, link to submit an LOI, and to view sample forms, visit https://lnkd.in/dzXJjaH. For additional questions or to discuss your research idea with our CSO, Dr. Cara O'Neill, please contact us at [email protected].

Cure Sanfilippo Foundation Chief Science Officer and Co-Founder Cara O'Neill, MD, FAAP, will be a speaker at American Society of Gene & Cell Therapy’s (ASGCT) Empowering Patients 2025: A Cell and Gene Therapies Summit in March. O’Neill will join Terry Flotte, MD, University of Massachusetts for the “When Innovation Stumbles and Pathways Forward” session on March 12. The session will explore the state of commercially pre-viable therapies (sometimes referred to as “dropped” or “discontinued” trials). O’Neill will offer the perspective of a patient advocate on why this happens and potential solutions. The Empowering Patients 2025 summit is an inaugural digital event, March 12 & 13, 2025, to provide timely education and engaging discussions on cell and gene therapies (CGTs). In alignment with ASGCT’s strategic plan, the goal is to empower advocates, patients, and caregivers who are vital in developing treatments. Attendees will hear from experts in the CGT field, as well as patient advocacy group leaders. There will be opportunities to ask questions and deepen your knowledge of the community’s CGT journey. Registration for ASGCT’s Empowering Patients 2025 is free. See the full agenda and/or register: https://lnkd.in/gNchxqcG