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2024 Progress Report compressed

2024 Progress Report compressed - Page 1

Salla Treatment and Research Foundation NEWSLETTER SUMMER 2024 Dear STAR families, doctors and supporters: Wow, 2024 has been a big year (so far) for our foundation – we hope you enjoy reading about our progress in this summer newsletter. One of the highlights for our family was traveling to Washington DC to support the US Promising Pathways Act to hopefully get promising drug treatments into the hands of families and patients faster. It has been so inspiring to work with other rare disease advocates! Since our last newsletter, STAR has launched a new website and patient registry and has continued to fund scientists working to develop therapies. We also submitted a big (for us!) grant proposal to the Chan Zuckerberg Initiative to take our foundation to the next level. We can all – when we work together – accomplish anything! Enjoy this newsletter and have a great summer. -- Mike and Jessica Foglio, STAR Co-Founders/President STAR FOUNDATION SUBMITS 5-YEAR GRANT PROPOSAL FOR THE CHAN ZUCKERBERG INITIATIVE In this newsletter: In February 2024, STAR submitted a 5-year grant proposal to the Page 1 - Welcome from STAR's Rare As One program within the Chan Zuckerberg Initiative (CZI) to President / CZI Grant Application enable patient-led rare disease advocacy organizations to join the Page 2 - RARE-X Patient CZI Rare As One Network. If funded, the STAR Foundation would Registry Launch receive up to $800,000 over five years and join a group of over 50 Page 3 - RARE Fundraiser / rare disease organizations around the world, each working toward Using Donor Box and Facebook the goals of their own foundation while building a network and to Raise Funds Page 4 - “Sami's Smile: Meeting learning from each other. STAR's Scientific Advisory Board, Board of Our Friend with Salla Disease” Directors, families and stakeholders all provided input on the grant Page 5 - FSASD Consortium proposal, which included requested funding for part-time positions News and Publications at the Foundation, two in-person meetings between scientists and Page 6 - Newly Funded Grant / families, translation services for increased global outreach, and New Researcher in the Spotlight support in building an MRI imaging registry, among other things. Page 7 Summer Travel Tips and Resources We'll find out in August if we're a winner - it's a really competitive Page 8 - Contact / New process, but we think we've put together a great application! More Website Information information: Page 1 of 8

NEW STAR FOUNDATION PATIENT REGISTRY HAS LAUNCHED! On May 8th, two dozen STAR families from around the globe joined together via Zoom to officially launch the new STAR Foundation patient registry. STAR is collaborating with an innovative non- STAR families, visit: profit called RARE-X (a program of the rare disease patient advocacy organization Global Genes) to house and maintain our to get started today! data collection program. RARE-X houses registries for over 80 patient communities. This log in page has instructions and FAQ’s in multiple languages. Each STAR family is asked to log in and create an account on the RARE -X platform for you and your child. You’ll then be asked to Need help? complete a set of baseline surveys about your child, which should contact data manager Agnes Jensen take about an hour. at [email protected]. Based on your survey responses, you’ll be asked additional questions (for example if your child has vision problems, you’ll complete a short survey specifically about vision). Families will be asked to update the registry if and when their child’s symptoms change, or at least once per year. HOW DO RESEARCHERS Currently the RARE-X platform is available in English only, but it will be fully translated to Spanish, Portuguese and French later this ACCESS REGISTRY summer. DATA? Researchers around the globe may The launch of a data collection is an important milestone for us and has been a key priority laid out by the STAR Scientific access de-identified registry data Advisory Board - thank you for participating! from both STAR and other patient advocacy organizations (each The data collected will be available to researchers around the individual family provides consent). world (in a de-identified way - each family’s name/identify are Requests are vetted and handled ‘masked’ so your survey answers cannot be tied back to you by RARE-X -- NOT the STAR specifically!) Foundation. Clinicians and researchers The registry is for Salla patients of all ages (child to adult). EVERY family‘s input is valued and appreciated! interested in learning more should go to: Page 2 of 8

“RARE” EVENT RAISES OVER $12,000! A huge thank you to Jessica and Mike Foglio for bringing together sponsors, neighbors and guests to celebrate “RARE,” their annual fundraiser to benefit the STAR Foundation. What a day! Over 400 attendees came together on May 19, 2024 for family fun in Lewisboro, New York. Entertainment included a magic show, juggler, pony rides, balloon animals, face painting, and the world famous Harlem Wizards. Over $12,000 was raised for STAR! Interested in learning about how to engage sponsors and donors for a fundraiser of your own? Reach out to Jessica at [email protected] to learn more! FACEBOOK DONOR BOX FOR TICKET SALES FUNDRAISING Many Facebook users like to The STAR Foundation uses “Donor Box” to collect use the “fundraiser” function. donations via our website. But Donor Box can also STAR is still officially listed on be used to sell individual tickets to your fundraising Facebook as event. Tickets can be customized with your logo, “A STAR FOR BEN INC” (our photos & a QR code. “Donor Box” allows guests to organization’s original name, use their credit card to securely purchase tickets, honoring Ben Foglio). make additional donations to STAR f desired, and All proceeds DO come to STAR Treasurer Ken Klein each purchaser receives an email receipt. STAR Foundation! is available to answer Want more information for your next STAR fundraiser questions! Thank you to those using [email protected] Facebook fundraising! fundraiser? Contact [email protected]. Page 3 of 8

SAMI’S SMILE -- A PERFECT ADDITION TO YOUR BOOKSHELF! “Sami’s Smile” a new paperback by Oregon author Sarah Anne Swoffer is a beautifully written and illustrated story celebrating her friend and neighbor Sami, who is living with Salla disease. "Sami's Smile" fosters a sense of empathy, inclusion, and kindness towards those with different abilities. Available at Amazon, and independent booksellers: Smile-Meeting-Friend- Disease/dp/B0D2HWCM7H Follow @sarah.huguet.swoffer on instagram Sami blows kisses to the crowd during a reading. Sarah Ann and Sami hosting a book reading at a local school and answering audience questions. page 4 of 8

NEWS FROM OUR CLINICAL PARTNERS The FSASD Consortium conducted their 15th meeting in March 2024, and will meet again this f month. The Consortium is now 55 members strong, representing 20 global Centers (USA, Germany, Finland, UK and France). Members have all signed a non-disclosure agreement and are freely sharing knowledge, data and resources on the path to therapies. OPERATION IDD GENE TEAM The Consortium was well represented at the 2024 In March, Consortium members WORLD Symposium in San Diego by the following Stephen Walkley and Melissa members: Wasserstein and team published their Marya Sabir (talk): Advancing free sialic acid storage work on the ‘Operation IDD Gene (FSASD) disorder disease modeling: Insights from iPSC- Team’ at the Albert Einstein College of derived neural cell types Medicine. “Using team-based Mahin Hossain (poster): Investigating the role of SLC17A5 precision medicine to advance in myelination and neurodegeneration in a murine model of understanding of rare genetic brain Free Sialic Acid Storage Disorder disorders” outlines their work bringing Marjan Huizing (poster): Cell-based functional assays for families affected by rare genetic Free Sialic Acid Storage Disorder diseases that cause intellectual and developmental disability together with Meeting details are published here, for those with journal physicians and scientists. The access: partnership described in the paper ultimately led to the creation of STAR! genetics-and-metabolism/vol/141/issue/ This open access article is available to Are you a clinician or researcher interested in all here: learning more about the Consortium? Sign up here: https://jneurodevdisorders.biomedcen involved#Researcher 09518-z Page 5 of 8

NEWLY FUNDED NEW RESEARCHER GRANTS SPOTLIGHT Thanks to generous donations to STAR, the Foundation is thrilled to announce a newly funded grant to the laboratory of Dr Raymond Wang, Children's Hospital of Orange County, CA Isaure Lot is a first-year postdoctoral fellow working within the laboratory of Dr. Bruno Gasnier at the Saint-Pères Paris Institute for the Neurosciences from Université Paris STAR is also pleased to announce a contract Cité. Her position is funded by the STAR extension with researchers at the National Foundation. Institutes of Health in Bethesda, MD. Thank Isaure’s research interests include the inner you to the wonderful NIH team for your continued dedication and collaboration! working of live cells, especially the crosstalk between intracellular compartments such as the lysosome, which is defective in Salla disease. She is actively involved in the laboratory efforts, under the supervision of Dr. Help us continue accelerating research Christine Anne, to identify drugs that could into therapies by donating to: rescue the molecular and cellular defects underlying Salla disease. She is passionate about the concrete scope Donations can be made in both US dollars or Euros. of the project, and the help it could bring to Become a monthly sustaining donor! FSASD patients and their families. Thank you! Page 6 of 8

TRAVELING THIS SUMMER? Salla Treatment and Research Foundsation Summertime brings longer days, warmer weather and hopefully time for your family to enjoy some vacation time together. Traveling with a family member with disabilities can be challenging. The US Department of State website lists detailed travel info by country: travel/before-you-go/travelers-with-special- considerations/traveling-with-disabilties.html ASSISTIVE DEVICES AND EQUIPMENT Research whether the airline/railway follows specific rules for your assistive devices and equipment. These may include wheelchairs, portable machines, batteries, respirators, and oxygen. You could be required either to take such items only as checked baggage, or only as carry-ons. Security screening in the departing and arriving airports may also have specific rules. Always gate check your wheelchair and keep the receipt! Don’t forget to check voltage at your destination - you may need an adaptor or converter! Don‘t forget to bring a full medication In this newsletter: list, and pack extra medication and medical supplies in case of unexpected travel delay! MORE HELPFUL WEBSITES: TSA Notifcation Card: Individuals with Check out the Hidden Disabilities Sunflower Disabilities and Medical Conditions program. It’s in 230+ airports, ferries and Traveling by air to or within the US? railways and helps travelers who have Call 72 TSA Cares 72 hours prior to traveling hidden disabilities. to request the assistance of a Passenger Support Specialist (PSS) at the checkpoint. If a sunflower PSS is not available, you may ask for a Supervisory TSA Officer at the checkpoint. For more great tips when traveling with a TSA Cares 1-855-787-2227 child with special needs: Automated information is offered in 12 languages. Notification cards can be printed: center/speech-and-language-issues/tips- for-flying-with-a-child-with-special-needs _notification_card_508.pdf Page 7 of 8

Contact us: STAR Foundation P.O. Box 115 Golden’s Bridge, New York email: [email protected] website: facebook: instagram: Families - has your email address changed? send updates to STAR Data manager Agnes Jensen via link above at [email protected] (US dollars or Euros) or using this QR code. Thank you! UPDATED STAR WEBSITE Have you had a chance to check out STAR‘s updated website?? We would love to feature STAR family updates from around the globe. Contact our data manager [email protected] so we can share your stories! The website features several ways to both connected and stay involved: STAR FAMILIES CLINICIANS AND RESEARCHERS: involved#Researcher To add or update address or contact info: involved#Families COMMUNITY ADVOCATES, FRIENDS AND VOLUNTEERS: To join the RARE-X registry: involved#Volunteers page 8 of 8