Cure Sanfilippo Foundation

What can flies tell us about Sanfilippo Syndrome? Lots, which is why the Foundation is again support the research of Trudy Mackay at Clemson University Center for Human Genetics (CHG) with a two-year renewal grant. The common fruit fly shares 75% of disease-causing genes with humans and is a well-established genetic model for studying the underlying genetic causes of rare human diseases. The fruit fly also produces heparan sulfate like humans and has all of the enzymes in the same pathway that degrades it. With this grant, CHG scientists will screen several drugs that are approved by the Federal Drug Administration for pediatric use to determine if they restore sleep patterns to normal in the mutant flies. See comments for more.

Researchers at University of North Carolina at Chapel Hill (UNC) have published a paper stating that their “findings support general tolerability and further study of fluoxetine as a potential therapy for MPS IIIA.” Earlier research using cell and mouse models of MPS IIIA found that fluoxetine decreases the accumulation of glycosaminoglycans and aggregated autophagic substrates, reducing inflammation, and slowing cognitive deterioration. To build upon those findings, the UNC team treated a single patient, 6 years old with MPS IIIA, under off-label prescription of fluoxetine, a selective serotonin reuptake inhibitor (SSRI). The primary endpoint was safety. Secondary exploratory assessments included urine quantitative heparan sulfate. The UNC team reported in the Molecular Genetics and Metabolism Reports publication: “Fluoxetine was well-tolerated in this patient and the patient continued treatment following the 12-month monitoring period. The patient experienced an increase in daytime somnolence which resolved with rescheduling fluoxetine administration to bedtime. Quantitative heparan sulfate levels remained elevated during treatment. Parents reported improved sleep latency time and less nighttime waking. These findings support general tolerability and further study of fluoxetine as a potential therapy for MPS IIIA.” Cure Sanfilippo Foundation is proud to have funded the drug-screening research study which first identified fluoxetine as a potential treatment for Sanfilippo, in the lab of in the lab of Diego Medina, PhD, at the Telethon Institute of Genetics and Medicine (Tigem), thanks to the amazing Sanfilippo family community and generous supporters. “It is wonderful to see the Foundation's translational research funding being carried forward into the clinical setting. This case report provides important early data on human safety and clinical effect which will help stimulate further patient-centered research." said Glenn O'Neill, Cure Sanfilippo Foundation President and Co-Founder and Dad of Eliza. Read the publication: https://lnkd.in/ghreMhRu Congratulations, Lindsay Torrice and Elizabeth Jalazo!

Good news and an urgent request to take action immediately … Two days ago, the Give Kids A Chance Act was unanimously passed by the House Energy and Commerce Committee and also by the full U.S. House of Representatives. This bill includes a 5-year renewal of the Rare Pediatric Priority Review Voucher (PRV) Program, which is a critical piece of legislation to incentivize the development of treatments for Sanfilippo and other rare diseases. Tomorrow, Thursday, Sept. 16, at 10:00 a.m., the Senate HELP Committee is holding a hearing on several bills, including the Creating Hope Reauthorization Act, which would reauthorize the Rare Pediatric Disease PRV program. The hope is that the committee will pass the bill quickly and the bill proceeds to the U.S. Senate for a vote. Without renewal, this program will expire after Sept. 30. We have been partnering on this issue with the trusted advocacy organization EveryLife Foundation for Rare Diseases. They are encouraging us, members of the rare disease community, to continue advocating for reauthorization of the Rare Pediatric Disease PRV program to pass in the Senate. Here’s how you can help right now: Take two minutes and use the link below to send your U.S. Senators a message using EveryLife Foundation’s Action Center, asking them to support S. 4583, the Creating Hope Reauthorization Act. You simply enter your name and address, and it automatically populates a message to your Senators and will send for you. https://lnkd.in/gFEMu3Js Please send your message before tomorrow’s hearing so your Senators are aware of your request for support. Grassroots actions by the Sanfilippo and wider rare disease community earlier this month, urging House members to support the reauthorization, clearly helped it pass the House. Let’s keep it up! Expiration of the Rare Pediatric Disease PRV would negatively impact the rare disease community, including for Sanfilippo. Please let your Senators know that this program is vital. Thank you for lending your support.

REGISTRATION IS OPEN, and FREE Why attend ADVANCE, Oct. 29 & 30? 1) ADVANCE is a Sanfilippo Syndrome-specific conference that brings together the patient/family, research, clinical, educational, and industry communities together. 2) It’s virtual and global, so you can attend from wherever you are. 3) Hosted by Cure Sanfilippo Foundation, it is free for all to attend, thanks to the generous sponsors. 4) You hear directly from many of the world’s leaders in Sanfilippo research, therapy development, and more, as well as get to ask them your questions. 5) Hear updates on ongoing and upcoming clinical trials for Sanfilippo. Register now: https://lnkd.in/ey7E26zR This year’s agenda is being finalized and will be released soon. But go ahead and register today. As always, there is no cost to attend ADVANCE and this wealth of Sanfilippo-specific information is available to all. Recordings of #ADVANCE2024 sessions, with translations in various languages, will be available. Make sure to register, even if you can’t attend live so you receive the link to the recordings right away. Your child’s clinicians, therapists, educators, extended family, and anyone else who is interested are welcome to attend ADVANCE too. Feel free to share this message and event link with them. https://lnkd.in/ey7E26zR Many thanks to our 2024 ADVANCE sponsors: JCR Pharmaceuticals, Ultragenyx, GC Biopharma (GC녹십자) & @Novel Pharma, Orchard Therapeutics - U.S., and Denali Therapeutics.

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