Cure Sanfilippo Foundation

THRILLED to say the Cure Sanfilippo ADVANCE 2024 Sanfilippo community conference recordings are now available for all to view! 2 full days of a packed agenda to watch when you are able. Watch to see some of the ways the donor dollars are moving the needle and making a difference. It's all happening because of your support! THANK YOU! #CureSanfilippo https://lnkd.in/dZACjTCS

World Sanfilippo Awareness Day is TODAY, Nov. 16! It’s a day dedicated to spreading awareness and sparking conversations globally about Sanfilippo Syndrome, a disease few have ever heard of. This special day of awareness honors the children around the world living with Sanfilippo Syndrome today and those who have passed away. It also honors the families of these precious children. We would love for you to join us in marking this day. Here are three easy ways to recognize the day: Wear purple: A purple shirt, purple socks, purple hair bows, whatever purple you have, throw it on and join others around the world in wearing purple to raise awareness of Sanfilippo Syndrome on November 16. Tell someone about Sanfilippo Syndrome: Take a moment to tell someone about about Sanfilippo Syndrome. People have rarely ever heard about Sanfilippo, but when they do, they often want to help. Be the reason someone new might join the fight for our children. Share why you care on social media: You have a deeply personal reason why you care about children with Sanfilippo Syndrome. Take a moment to share on social how Sanfilippo became a part of your life and why you choose to help cure it. Let people hear your impressive story. And include #WorldSanfilippoAwarenessDay so we can see it! On behalf of every family of a child with Sanfilippo, thank you. Thank you for making a difference. Thank you for helping fight. It means the world to us.

TYPE C NEWS … We are excited to share that the natural history study of Sanfilippo Syndrome Type C (study ID #JLK-447) sponsored by Phoenix Nest Inc., began recruiting this week at one of its two locations! The first site is at the Hospices Civils de Lyon - HCL in Lyon, France and will be followed next year by the opening of a second site at UT Southwestern Medical Center in Texas, USA. This is the first prospective, observational (“natural history”) study dedicated to individuals with Sanfilippo type C. Over the two-year study, the progression of Sanfilippo Type C disease will be documented in children and young adults through retrospective review of medical records and an ongoing collection of clinical data through study site visits and at-home recording devices. Learnings from this study will be critical to further drug development and future clinical treatment trials. For further information about this study, including contact information for the study sites, visit: https://lnkd.in/g24SEnbj

We are pleased to share that Denali Therapeutics has just announced positive preliminary cerebrospinal fluid heparan sulfate (CSF HS) biomarker data for its Phase 1/2 study of DNL126 in Sanfilippo Syndrome Type A (MPS IIIA). Denali stated in a public third-quarter report on its website: “Preliminary data from our Phase 1/2 study of DNL126 in MPS IIIA demonstrate a robust reduction from baseline in CSF heparan sulfate levels, including normalization. Based on these data and a positive regulatory environment, we recently expanded the study to support a potential accelerated path, said Ryan Watts, Ph.D., Chief Executive Officer of Denali Therapeutics.” ? - Preliminary data from up to 25 weeks of dosing in the ongoing open-label Phase 1/2 study in MPS IIIA participants demonstrate a significant reduction in CSF HS levels from baseline, including normalization.? - The safety profile supports continued development. The most frequent treatment emergent adverse events were infusion related reactions of mild and moderate severity in all participants. There was one serious adverse event considered by the investigator not related to drug. Denali plans to present the data at a future medical meeting. - Based on the preliminary Phase 1/2 results and a positive regulatory environment, Denali recently expanded the study and continues to assess the development plans including an accelerated approval path. - DNL126 was selected in June 2024 for the FDA's Support for clinical Trials Advancing Rare disease Therapeutics (START) program to accelerate the development of rare disease therapeutics, and collaborative engagement has commenced to support progress to a pre-BLA meeting. ? Denali provided the following additional information to Cure Sanfilippo Foundation: Q: When do you plan to present data at an upcoming medical meeting? A: At this time, we have not finalized plans for when and where we will share data from the ongoing Phase 1/2 study. Once we determine our presentation plans and a publication has been publicly accepted, we will share this information. Q: Can you share details of the study expansion mentioned in this update? A: This expansion refers to the recent opening of enrollment in Cohorts A3, B1, and B2 in the Phase 1/2 study. Details on these cohorts can be found on https://lnkd.in/gEtBQ92E. As previously shared, all participants for A1, A2, and A3 have been identified. Our focus remains on identifying the most effective and timely path to advance DNL126 as a potential treatment for the MPS IIIA community. Q: How does being part of the FDA's Support for clinical Trials Advancing Rare disease Therapeutics (START) pilot program impact the development of DNL126? A: Being part of this program enables us to work closely with the FDA to further accelerate the development path for DNL126. We look forward to working collaboratively with the FDA on this effort.?

As anticipated from their presentation during Cure Sanfilippo Foundation's ADVANCE 2024 conference, the clinical trial of GC1130A enzyme replacement therapy for Sanfilippo Type A is NOW LISTED as "RECRUITING" on ClinicalTrials.gov. Currently, there are three sites listed, including one at UCSF Benioff Children's Hospitals in Oakland, CA, and we anticipate more being added. This is a first-in-human, Phase I study that is testing the safety of the experimental enzyme replacement drug named GC1130A. In this study, GC1130A will be given by infusion into an intraventricular reservoir device placed under the scalp with a catheter extending into the ventricular fluid space of the brain. Enzyme will then be delivered directly into the ventricular fluid space of the brain. This experimental therapy is being co-developed by Novel Pharma and GC Biopharma (GC???). This trial plans to enroll up to a total of 9 children between the ages of 24 and 72 months (2-6 years old). If you are interested in learning more about this study or want to express your interest in participating, please reach out to the contacts listed in the ClinicalTrials.gov listing (see link below). Additional information on the study and inclusion/exclusion criteria are also included in the ClinicalTrials.gov listing. ClinicalTrials.gov listing: https://lnkd.in/gdzyknnq

Day 2 of ADVANCE 2024 is underway. It's packed with even more Sanfilippo-specific presentations from the world's experts and insights from the families living with Sanfilippo Syndrome. Join us! Register at www.ADVANCESanfilippo.com to access the event. Glenn O'Neill, Cara O'Neill, Robin LeWinter, Angelica Cordoba Claros PhD., Jessica Haywood, Jonathan Acevedo, Rafael A. Badell-Grau, PhD, Nadja Zeltner, Patricia Dubot, Steven Gray, Philip Gordts, PhD, Lynda Polgreen, Julie Tuccillo-Stracener PharmD, BCPPS, Michelina Iacovino, Heather Lau MD MS, simon jones, Ana-Claire Meyer, Kim Ramsey

Day 1 of ADVANCE 2024 is underway! It's not too late to join the global Sanfilippo community conference. Register now to access the conference at www.ADVANCESanfilippo.com.

ADVANCE 2024's packed agenda is starts today at 10:00 a.m. ET. Don't miss out on all of the Sanfilippo-specific presentations and networking. You can still register for this free, global, community-wide conference at www.ADVANCESanfilippo.com. Day 1's agenda is packed with sessions about: - Immune responses, ethics of dose escalation, and community/patient perspectives on gene therapy risk/benefit & long-term follow up - Affected individuals and families share their personal viewpoints and experiences - Nutrition to support a healthy body and brain - The Eyes Have It: Impact on the retina and monitoring strategies in Sanfilippo disease - The advantages of qualitative interviews in clinical trials

Don’t miss the packed agenda of ADVANCE 2024, the virtual Sanfilippo community conference, Oct. 29 & 30, hosted by Cure Sanfilippo Foundation. Register today! Don’t miss hearing from and interacting directly with experts who are leading research around the globe, clinicians pioneering best-in-class therapeutic care, and the families of children with Sanfilippo Syndrome. When: Oct. 29 & 30, 2024 Where: Virtual, so wherever you are Cost: Free Register: www.ADVANCESanfilippo.com This year’s packed agenda includes sessions on: - The Eyes Have It: Impact on the retina and monitoring strategies in Sanfilippo disease - Affected individuals and families share their personal viewpoints and experiences - Nutrition to support a healthy body and brain - Immune responses, ethics of dose escalation, and community/patient perspectives on gene therapy risk/benefit & long-term follow up - Energy metabolism and secondary mitochondrial dysfunction in Sanfilippo - Emerging model system of the peripheral nervous system - What does “Accelerated Approval” mean? - Updates on drug-repurposing and enzyme-restorative clinical trials See the full agenda for this two-day, Sanfilippo-specific conference and register today at www.ADVANCESanfilippo.com. As always, there is no cost to attend ADVANCE. Cure Sanfilippo Foundation believes in making this wealth of Sanfilippo-specific information available to all. Many thanks to our sponsors, Denali Therapeutics, JCR Pharmaceuticals, GC Biopharma (GC???), @Novel Pharma, Orchard Therapeutics - U.S., and Ultragenyx, for assisting with the event expenses so it can be freely available to all. New this year: real-time translations will be available in Spanish, during the live conference! Recordings of ADVANCE 2024 sessions will be made available after the conference and have an option of translated captions in a wide range of languages. Make sure to register, even if you can’t attend live, so you receive the link to the recordings right away. www.ADVANCESanfilippo.com

Hear about peripheral neural stem cell models and drug discovery for Sanfilippo Syndrome, AVP6 as a promising small molecule for treatment of Sanfilippo disease, and development of gene therapy for Type C during the "Advances in Preclinical Research For Sanfilippo" session of ADVANCE 2024. All directly from the researchers leading the work. In addition to hearing their presentations, you'll have the opportunity to ask them your questions in the live Q&A. See the full agenda for this free, virtual, global conference on Oct. 29 & 30, hosted by Cure Sanfilippo Foundation, at www.ADVANCESanfilippo.com. Steven Gray, Patricia Dubot