Cure Sanfilippo Foundation

Congratulations to Cure Sanfilippo Foundation Scientific Advisory Board Member Jan Nolta and the teams at University of California, Davis, and Muscular Dystrophy Association on this important work for congenital myasthenic syndrome?(CMS). https://lnkd.in/gsqZ8k_g

It is the remarkable kindness of people who have chosen to care about children with Sanfilippo Syndrome and their families that is blazing the path towards a cure. Every supporter, every researcher and clinician, every fundraiser, every sponsorship, every grant ... It is making a difference, turning hope into action. Thank you, Nancy Rubino and Elsevier and all your colleagues and friends, for being part of the fight.

Meet Jase and his mom Sarah. Jase has an attenuated form of Sanfilippo Syndrome, which means the effects are typically slower to progress. While most children struggle to gain complex language skills because of Sanfilippo Syndrome, 8-year-old Jase loves to have a chat. Enjoy hearing directly from Jase about his favorite sports and video games, plans for his upcoming birthday, and whether he's ready to head back to school. Sarah also shares how she fought for years to get a diagnosis, what it's like to have a child with Sanfilippo Syndrome and a neurotypical child, and how they have found a community that supports them. Thank you, Jase and Sarah, for sharing to help people better understand Sanfilippo Syndrome and life with it. https://lnkd.in/gCfp6M2q

TAKE ACTION opportunity ... The Rare Disease Pediatric Review Voucher (PRV) is set to expire in late September. This would NOT be good for the rare disease community. Our thoughts on the PRV are: - Pediatric Rare Disease Priority Review Voucher (PRV) program is a critical incentive to stimulate companies to develop drugs for rare diseases in children. - The opportunity to receive a PRV is a key factor when businesses are deciding which disease to work on. - Companies can sell their PRV and that revenue is part of the incentive for them to invest in developing treatments for rare pediatric conditions. Some of the important impacts of the PRV, from the EveryLife Foundation for Rare Diseases website are: - Developing drugs for rare pediatric diseases is challenging due to the small populations affected, difficulties associated with conducting clinical trials for children, delays in diagnosis and more. - About 70% of rare diseases are exclusively pediatric onset and overall, 95% of rare diseases have no approved treatments. - The impact of the PRV program has continued to increase since the last reauthorization. A new incentive takes time to fully impact decision making since it takes an average of 15 years for a drug to be developed and approved by the FDA. - 49 Rare Pediatric PRVs have been issued since 2012 for innovative treatments in 40 diseases like spinal muscular atrophy, Duchenne muscular dystrophy, and progeria syndrome. - 7 out of 7 drug developers interviewed by the GAO reported that PRVs were a factor in drug development decisions. The EveryLife Foundation for Rare Diseases is asking supporters to take action and have made writing a letter to your state representatives very easy. You'll see on the right side of this page, you can enter your story information, and then your name, address, phone, and it will automatically populate those representatives in your state and will send for you. TAKE ACTION HERE: https://lnkd.in/dDn8QB4 MORE INFORMATION ON THE PRV: https://lnkd.in/gyQJv_K3

??Thrilled to announce the dates for ADVANCE 2024, Oct. 29 & 30, our third annual Sanfilippo Community Conference. ADVANCE is a virtual conference that brings together families and caregivers, scientists and researchers, clinicians and therapists, advocates, biotechs, and supporters from around the world to engage and advance the work to help children with Sanfilippo Syndrome. Registration will open next week.

A two-year translational research project has shown the small-drug molecule CLR01 reduces harmful clumping of abnormal proteins and brain inflammation and improves symptoms in Sanfilippo type A, B, and C mice. CLR01 was also found to improve outcomes when combined with gene therapy. This research by Associate Professor Alessandro Fraldi and his team at CEINGE Biotecnologie Avanzate in Naples, Italy, was funded by Cure Sanfilippo Foundation, Sanfilippo Children's Foundation (Australia), and the H.A.N.D.S. consortium. And it built upon the team’s previous research proof of concept research also funded by Cure Sanfilippo Foundation. The Foundation is able to fund these important and promising early and translational research projects because of generous supporters. Every donation is put to work towards helping children with Sanfilippo Syndrome have a better life. Read more: https://lnkd.in/gYuz_TJV

Happening Now ... Explore the ins and outs of Applied Behavioral Analysis (ABA) and Sanfilippo Syndrome. Two ABA therapists will discuss the differences in ABA therapy for children with Sanfilippo, what to look for in a provider, who makes up an ABA therapy team, and examples of what an ABA therapy session looks like for a child with Sanfilippo. Open to everyone. To join, simply follow the Zoom link now: Zoom link to join the webinar: https://lnkd.in/e65qgHYC Unable to join live? A recording of the webinar will be available on the Sanfilippo Speak page of the Foundation’s website afterward for on-demand access.

JOIN US TODAY at 1:00 p.m. EDT for the next installment of Sanfilippo Speak, the Foundation’s family support webinar series covering topics pivotal to navigating life with Sanfilippo. The August Sanfilippo Speak will explore the ins and outs of Applied Behavioral Analysis (ABA) and Sanfilippo Syndrome. Two BCBA-certified therapists will discuss the differences in ABA therapy for children with Sanfilippo, what to look for in a provider, who makes up an ABA therapy team, and examples of what an ABA therapy session looks like for a child with Sanfilippo. Event registration is not required. Simply follow the Zoom link here: https://lnkd.in/e65qgHYC to join us live. Unable to join live? A recording of the webinar will be available afterward. As always, there is no cost to attend a Sanfilippo Speak webinar, and they are open to the public. Invite anyone involved in the care of a child with Sanfilippo, including therapists, teachers, clinicians, and more.

Tune in tomorrow at 2:00 p.m. EDT for insights into durable medical equipment (DME) from DME experts who have worked with many Sanfilippo families during the Foundation’s latest Sanfilippo Speak family support webinar. No registration required or cost to attend Sanfilippo Speak. Simply follow the Zoom link below to join us live tomorrow at 2:00 p.m. Zoom link: https://lnkd.in/gqX2RYCH A recording of the webinar will be available on the Sanfilippo Speak page of the Foundation’s website afterward for on-demand access.

Earlier this year, Cure Sanfilippo Foundation and other key MPS stakeholders were honored to participate in a pivotal, day-long workshop convened by the Reagan-Udall Foundation for the FDA. The consensus of the participating experts was that levels of heparan sulfate in the cerebrospinal fluid are a valid biomarker that can be used to enable accelerated approvals for neuronopathic MPS treatments. To add further strength to this consensus, their recommendations have recently been published in the scientific journal Molecular Genetics and Metabolism. Among the authors is Foundation Chief Science Officer Cara O'Neill, MD, FAAP. Read the publication: https://lnkd.in/dNA49ThV