December 2024 Progress Report compressed [Slide]

December Newsletter Progress Report 2024

DECEMBER 2024 NEWSLETTER Dear STAR Supporters, Happy Holidays! 2024 has been an incredible year for our budding foundation, and we are truly beginning to thrive! This year, the Salla Treatment and Research Foundation had the honor of being chosen by the Chan Zuckerberg Initiative (CZI) for a Rare As One Award! For the next 5 years, CZI will help to build the infrastructure of STAR, giving us the tools to hire professionals and internally grow. Perhaps even more exciting, this means that our fundraising going forward will be fully focused on direct science and research! Starting in 2025, STAR Foundation will host a virtual seminar series to help families navigate the array of challenges they might face in raising a child with FSASD; details on our first lectures are on on page 3. Additionally, the CZI Award allows us to dedicate funds to STAR Families, to help them attend our IN-Person meetings. Details will be coming soon about specific dates, and locations. As I look back on our accomplishments since our start in 2018, I am in awe of all that we have achieved together. Winning the Chan Zuckerberg Award is an amazing testimony to our hard work and dedication to finding a treatment for Salla Disease. It's an honor that CZI believes in our work. However, our supporters were the FIRST to believe in our mission that no disease is too rare for viable research and treatment options. For this, I am forever thankful for your contributions and support over the past 6 years. Thank you for being the start, the TRUE foundation, of the STAR Foundation. Warmly, TRANSLATIONAL SCIENCE Jessica Klein-Foglio President and Co-Founder AWARD FUNDRAISER Jessica, Mike, Michael, Ben and The Free Sialic Acid Storage Disorder (FSASD) Consortium Lily advocating for rare diseases has made breakthroughs in understanding the basic science families in Washington DC behind Salla Disease and is now looking to test potential drug therapies in pre-clinical models. If successful, these experiments could lead to clinical trials in Salla patients! To accelerate testing of candidate therapies, STAR is looking IN THIS EDITION to raise a minimum of $100,000 to support a new Translational Award, accepting grant applications in 2025 that will be reviewed by STAR’s Scientific Advisory Board. 1. Welcome & Transitional Award Thanks to a generous initial donation, we are more than 2. Chan Zuckerberg Initiative Award / halfway to our goal! Thank you for being part of this exciting progress! See link and QR code below to donate. Sami’s Smile Update For larger donations, please contact us at info@star- 3. STAR Foundation Family Seminar Series foundation.io for wire transfer information. 4. Resources for our STAR Caregivers 5. FSASD Consortium 2024 News & Progress 6. Research Spotlight 7. RARE-X Patient Registry Update 8. Contact Us Donate now! Page 1 of 8 www.sallaresearch.org

CHAN-ZUCKERBERG INITATIVE’S RARE AS ONE AWARD In our June newsletter update, we shared that STAR had applied for the very competitive Rare As One project grant from Chan Zuckerberg Initiative (CZI). We are thrilled to report that STAR was funded! CZI was founded by Dr. Priscilla Chan and Mark Zuckerberg in 2015. CZI’s Rare As One Project supports patient-led organizations across the globe by strengthening communities, building capacity, and promoting collaboration to find treatments and cures for rare diseases. With this grant award, STAR joins Rare As One’s global network of over ninety patient advocacy organizations and will receive funding, support, and mentorship over a five-year period. STAR has jumped right in to the Rare As One community, attending a welcome call with other grantees, their 2024 “Science in Society” meeting in October, and receiving weekly updates on resources available to the Foundation. Rare As One funding will allow us to better support (and grow!) our STAR family network by: Helping to fund TWO in person family/researcher meetings over the next five years, including our first ever convening in Europe (Helsinki, September 2026!) Scholarships to support family travel will be available to each meeting. Funding a family seminar series, with educational speakers sharing information not only about Salla disease, but about how to support families throughout their Salla journey (see page 6 to register!) Funding STAR staffing for better family support and networking, including translation services and help with participation in the RARE-X data registry. Rare As One funding will allow us to better support (& grow) our STAR researcher/clinician network by: Funding a scientific coordinator at STAR, supporting the FSASD Consortium and driving a series of initiatives aimed at accelerating initiation of clinical trials for patients and driving earlier diagnosis of the disease. Funding creation of a ‘standard of care’ document, to guide clinicians who may be unfamiliar with Salla disease. Providing an opportunity for clinician/researchers to meet with families in person; including scholarship support for emerging researchers to attend these meetings. Expanding data collection initiatives such as the patient registry, diagnosis improvement, and a biobank. We are so grateful to CZI for the support and look forward to reporting progress in our next newsletter! The Chan Zuckerberg Initiative was founded in 2015 by Dr Pricilla Chan and Mark Zuckerberg to help solve some of society’s toughest challenges - from eradicating disease and improving education, to addressing the needs of our communities. Through collaboration, providing resources and building technology, our mission is to help build a more inclusive, just and healthy future for everyone. For more information, please visit https://chanzuckerberg.com Sami’s Smile update! In our last newsletter, we shared “Sami’s Smile” a paperback by Oregon author Sarah Anne Swoffer celebrating her friend and neighbor Sami, who is living with Salla disease. We would like to extend a big thank you to Sarah, for sharing profits from the book with STAR! Copies are available from Amazon at https://www.amazon.com/Samis- Smile-Meeting- Friend- Disease/dp/B0D2HWCM7H . Page 2 of 8 www.sallaresearch.org

STAR FOUNDATION FAMILY SEMINAR SERIES The STAR Foundation is delighted to announce a NEW interactive seminar series in 2025 designed for our families and caregivers around the world. Each seminar will be held live via Zoom. To allow participation across the globe, our speakers will present the material twice -- once on a Saturday morning (11am- noon ET, UTC/GMT -5 hours) and on a Tuesday evening at 8-9 pm ET UTC/GMT -5 hours). Sessions will be recorded for later viewing. Translation services are available at no charge (please contact ajensen@sallaresearch.org to arrange). Thank you to our February sessions: Chris Jackson, CPC, ELI-MP partners at the The Energy of Success: Mastering Your Energy to Meet the Moment Chan Zuckerberg Initiative for "Coach Chris" Jackson is a Holistic-High Performance Coach credentialed by the supporting the International Coaching Federation. Since 2016 he has helped both families and ambitious family seminar professionals balance life roles. Through his energy optimization framework and tools, series! he provides clients with an ability to access a newfound sense of calm, focus, and motivation for handling the demands both in and out of work. Register here for Register here for Saturday February 22: Tuesday February 25: Upcoming seminar Summer 2025 Panel discussion: Ask Me Coach Chris Jackson Anything about Salla Disease FSASD Consortium members from National Institutes of April sessions: Elena Jackson, MA, LMHC, LPC Health, Einstein College of Two Paths, One Heart: Balancing the Needs of All Your Children Medicine and Children’s Elena Jackson is a Licensed Mental Health Counselor and family therapist with 15 years Hospital of Orange County join of experience treating anxiety disorders and helping families navigate the unique for a special session to give families the opportunity to challenges of raising children with diverse needs. Through an evidence-based approach, answer lingering questions she integrates strategies with advanced empathy to help guide parents in balancing the about Salla Disease - like why emotional, practical, and relational demands of their family life. She is passionate about do we sometimes use the empowering parents to build harmonious family dynamics where each child in the family term FSASD?? Join us for an informative and engaging feels seen, valued, and supported. Join Elena as she delivers practical tools and heartfelt session! wisdom. Register here for Register here for Registration info will be shared via email and in our next Saturday April 5 Tuesday April 8 newsletter! Email us at info@sllaresearch.org if you have ideas or request for future Elena Jackson seminar topics! Page 3 of 8 www.sallaresearch.org

RESOURCES FOR OUR STAR CAREGIVERS In November we celebrated Family Caregivers’ Month, where we paid tribute to the moms, dads, siblings and grandparents that are the backbone of our STAR community! Caregiving can be challenging, so we’ve compiled some resources available to help. Have resources you would like to share? Email us at info@sallaresearch.org. NORD STATE CAREGIVER ACTION RESOURCE CENTER NETWORK In the US, it an be difficult to navigate state- The CAN website, which translates with one- by-state resources available. The National click to 10 languages, offers a Caregiver Organization for Rare Disorders (NORD) has toolbox, a You Tube video channel, wide compiled a database of programs across range of resources as well as a live caregiver many topics, including caregiver support. help desk. See what your state offers at https://caregiveraction.org http://rarediseases.org CAMP VICTORY JUNCTION Camp Victory Junction has summer camp programs (in North RAREGIVERS Carolina, USA) for both children and families (ages 3-16) to enjoy GLOBAL traditional camp activities, with a Raregivers™ is a global network that full medical staff to help! delivers emotional support to caregivers, Salla Disease is a qualifying patients and professionals in rare, chronic condition. Full scholarships are and complex disease communities. They available and applications for 2025 support rare families in 33 countries with: camps are now open! On-line resources visit them at https://victoryjunction.org/ Newsletters, Workshops, & Retreats visit them at (Ben Foglio was a 2024 camper, https://www.raregivers.global/ contact Jessica to hear more!) Page 4 of 8 www.sallaresearch.org

2024 NEWS & PROGRESS STAR’s scientific partners, the independent FSASD research consortium, met for the 17th time in November. The Consortium has grown to 20 research groups from the USA and Europe, with each group bringing different skills and experience, to study different aspects of FSASD in a collaborative effort to speed up learning more about disease mechanisms and treatment possibilities. Thanks to partial funding from organizations like STAR and the dedicated families of the FSASD community, the Consortium is excited to share with us major progress made in the past several years: Clinical Studies: A group of families with children with FSASD visited the NIH Clinical Center (Bethesda, MD) for extensive clinical studies ( “a natural history study”), so that doctors and other researchers could learn more about the course of the disease, in particular about onset and progression of symptoms. These findings can be used in the future for measuring responses to therapies (publications are pending). Cellular studies: In order to study FSASD in research laboratories, we created many tools that mimic the disease, including cells derived from affected people’s biopsies. We have collected samples from several patients, we analyze how the unique genetic changes of each person correlate to their symptoms and look at changes in the cells, even at the microscopic level. We are currently using different cell types to observe the disease state and how this can help us screening for drugs that may have an effect on FSASD. Animal models: Another way we can study genetic diseases is with animal models. Using CRISPR gene editing technology, we have created a mouse model and a zebrafish model of FSASD/Salla disease. Why zebrafish?? They have specific properties (large number of offspring, low cost) which can speed up some research such as drug testing. Animal models allow us to study the disease progression and physiology that can be difficult to study in humans, like changes to brain development and neurological function over time. The mouse and zebrafish models will be used to test the efficacy of potential new therapies for FSASD. Because of the important research progress described above, the Consortium has now reached the point that we can start testing potential therapies on FSASD animal and cell models in a controlled collaborative effort to avoid wasting time or resources. We plan to test some drugs that are already approved for use in patients with diseases similar to FSASD and we also plan to screen drug panels for potential new drugs. We plan to share our disease models and measurements for response to therapy among interested consortium groups, so that we can test different potential therapies in parallel on different models. Thank you to the FSASD Consortium for this update! Your donations to STAR’s Translational Science Award Fundraiser will directly support grants to FSASD Consortium research groups testing potential therapies (all grant applications are reviewed by STAR’s Scientific Advisory Board). page 5 of 8 www.sallaresearch.org

RESEARCHER SPOTLIGHT Meet Jerry Harb, staff scientist, from the Department of Metabolics at Children’s Hospital of Orange County, California (CHOC) What are your research interests? How does that work potentially help to find therapies for patients living with Salla disease? My work with Dr. Raymond Wang’s group at CHOC primarily focuses on genome engineering to correct pathogenic variants in pediatric lysosomal storage diseases, employing cutting-edge techniques like CRISPR- Cas9. The research is dedicated to developing new therapies for rare genetic conditions like Salla disease. In the world of genetic disorders, diseases are rooted in our genes, or the ‘code’ that directs how our bodies grow, develop, and function. Genes act like instruction manuals, telling our cells what proteins to make and when to make them. When there is an mutation, or ‘typo’ in this code, it can disrupt the proteins that are essential for normal body functions, leading to various health problems. I am particularly interested in the use of modern molecular techniques that aim to correct the underlying cause or ‘typos’ of disease. To do this, we utilize advanced genetic tools to try and fix the faulty gene. One of these tools, called base editing, acts like a molecular pencil that can carefully correct the mistakes in the genetic code without causing additional problems. My work in Salla disease has shown that this approach can help cells function more normally, reducing the harmful effects of the disease in both human and mouse cells. The ultimate goal of my research is to turn these findings into real therapies that can slow down or even stop the progression of Salla disease. While there’s still more work to do, I am hopeful that these methods will one day make a difference for patients and their families, offering them better outcomes and improved quality of life. How has working on Salla disease impacted your future goals? The next steps in my career involve continuing to advance the field of genetic therapies, focusing on translating laboratory discoveries into treatments that can make a real difference for patients. My work on Salla disease has been particularly inspiring because it highlights the potential of gene-editing technologies to address rare and currently untreatable conditions. This experience has shaped my future goals by reinforcing my commitment to pursuing innovative approaches that not only target the root causes of genetic disorders but also improve patient outcomes. I hope to expand my research to other similar diseases, collaborate with clinical teams to develop therapies, and ultimately contribute to making these technologies more accessible to patients and their families. Click on the link below or Jerry Harb holds an Master of QR code to read more about Science in Biomedical Sciences from Western University of base editing: Health Sciences. He lives in “Base editing corrects the Southern California with his common Salla disease SLC17A5 wife Jesica and their two cats, c.115C>T variant” Mowgli and Baloo. Page 6 of 8 www.sallaresearch.org

PATIENT REGISTRY UPDATE Thank you to the families around the world that have already signed up with and are participating in the STAR Patient Registry, hosted on the Rare-X platform. The registry is for Salla patients of all ages (child to adult). EVERY family‘s input is valued and appreciated! Each STAR family is asked to log in and create an account on the RARE -X platform for you and your Salla patient. You’ll then be asked to complete a set of baseline surveys about your them, which should take about an hour. Based on your survey responses, you’ll be asked additional questions (for example if your Salla patient has vision problems, you’ll complete a short survey specifically about vision). Families will be asked to update the registry if and when their Salla patient’s symptoms change, or at least once per year. Currently RARE-X is available in English only; translation to Spanish, French and Portuguese has been delayed, but should be available in 2025. However, STAR provides translation services available to help if needed. As we learned in the FSASD Consortium update (see page 3), pre-clinical trials in animal and cell This Edition models are coming soon. The patient registry provides researchers important data about our Salla community as we move towards potential clinical trials in people. The data collected is ‘masked’ so that each family’s name/identify cannot be tied back to you specifically! STAR families, visit: HOW DO RESEARCHERS ACCESS REGISTRY DATA? https://rare-x.org/salla- Researchers around the globe may research/ access de-identified registry data from to get started today! both STAR and other patient advocacy organizations (each individual family This log in page has instructions and FAQ’s in provides consent). multiple languages. Requests are vetted and handled by RARE-X -- NOT the STAR Foundation. Need help? Clinicians and researchers interested Contact STAR project manager in learning more Agnes Jensen at ajensen@sallaresearch.org should go to: for individual assistance with getting started or https://rare-x.org/researchers/ to answer any questions! Page 7 of 8 www.sallaresearch.org

Contact us: STAR Foundation P.O. Box 115 Golden’s Bridge, New York email: info@sallaresearch.org website: www.sallaresearch.org facebook: www.facebook.com/sallaresearch instagram: www.instagram.com/sallaresearch via link above Families - has your email address changed? (US dollars or Euros) or send updates ajensen@sallaresearch.org using this QR code. Thank you! STAR FAMILIES CLINICIANS AND Share your story: RESEARCHERS: We would love to feature STAR family updates https://www.star-foundation.io/get- from around the globe. Contact involved#Researcher ajensen@sallaresearch.org for more information! COMMUNITY ADVOCATES, To add or update address or FRIENDS AND contact info: VOLUNTEERS: https://www.star-foundation.io/get- https://www.star-foundation.io/get- involved#Families involved#Volunteers To join the RARE-X registry: https://rare-x.org/salla-research/ www.sallaresearch.org page 8 of 8