Exciting Advances in Azafaros Clinical Programs for NPC and GM Gangliosidoses Azafaros has announced significant progress toward global Phase 3 trials for their innovative therapy, nizubaglustat, targeting Niemann-Pick Disease Type C (NPC) and GM gangliosidoses. Highlights include: Regulatory Approvals:  Clinical Trial Applications (CTAs) have been approved across multiple European countries. Trials are set to begin in Q2 2025 and will span regions including the United States, Europe, and Latin America. Orphan Drug Designations:  Nizubaglustat has been granted Orphan Drug and Orphan Medicinal Product designations in the US and EU, recognising its potential as a life-changing therapy for these rare diseases. Innovative Therapy:  Nizubaglustat, a small molecule with a unique dual mode of action, is designed to address critical neurological symptoms associated with lysosomal storage disorders like NPC. This exciting update marks a step closer to new treatment options for families affected by these devastating conditions. Download the full announcement below. Together, we’re advancing hope for rare diseases. To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online .

As 2024 draws to a close, we take a moment to reflect on the incredible work accomplished by the Australian NPC Disease Foundation (ANPDF) and the unwavering support we have received from our community. It has been a year of growth, collaboration, and significant milestones, all aimed at improving the lives of those impacted by Niemann-Pick Disease Type C (NPC) . A Year of Advocacy and Progress This year, ANPDF continued its advocacy efforts for the approval of NPC treatments in Australia. We’ve made significant strides, with a particular focus on AQNEURSA (levacetylleucine) and Miplyffa (arimoclomol). We also connected with several up-and-coming research organisations to continue exploring potential therapy options for our families. Thanks to the tireless work of our board , staff, and supporters, we’ve raised awareness within the Australian medical community and the general public. We also hosted our Advocating for Treatments in Australia Webinar , which provided an important platform for patients, families, and medical professionals to discuss the current treatment landscape with Rare Voices Australia, and the ongoing efforts to gain approval for these essential therapies in Australia. Successful Fundraising Initiatives Alongside an incredible year of generous donations, our fundraising initiatives have seen great success this year. Highlights include: The Silver Raffle , which raised an incredible $2,130, supporting research and patient care. The Inaugural Poker Tournament at the Benalla Bowls Club, raising $2,300. Ellie's special Kando Martial Arts Fundraiser , in which she raised $1,600 with her family and co-hosted a very special self-defence class. The Minds in Motion Charity Cocktail Fundraiser, held at The Timberyard in June 2024, which brought together our supporters for a vibrant evening of cocktails, conversation, and philanthropy, raising over $53,000 for NPC research and patient support. Minds in Motion Charity Cocktail held at The Timberyard in June 2024. These contributions have gone directly toward funding research , the Guidelines project and supporting families affected by NPC, and bringing us closer to our ultimate goal: accessible treatments for all . Community Engagement Initiatives Our community continues to be at the heart of everything we do. This year, we launched our Care and Guidelines Project , a comprehensive guide for managing NPC. The project is on track to publish its first National Care and Guidelines document in June 2025, a crucial step forward in ensuring that patients receive the best care possible. In addition, we hosted our Annual Niemann-Pick Conference , which brought together medical professionals, researchers, and families for valuable discussions on the latest advancements in Niemann-Pick research and care. The conference is a key event in advancing awareness and collaboration within the NPD community, and we are proud of the progress made this year. The 2024 Annual Niemann-Pick Conference held at The Florey in Melbourne in June 2024. Looking Ahead: A Bright Future for 2025 As we look toward 2025, we’re excited about the continued progress in Niemann-Pick awareness, treatment access, and research. We will be welcoming new and returning committee members following the upcoming Annual General Meeting in February 2025, and we look forward to working with them to further our mission. Thank you for being part of this journey with us. Your support makes all the difference, and we are incredibly grateful for your contributions. How You Can Help in 2025 As we enter a new year, there are many ways you can continue to support our cause: Donate  to support NPC research and treatment access. Volunteer  to lend your time and expertise. Share  our message on social media to raise awareness. Together, we can create a brighter future for all those impacted by Niemann-Pick Disease in Australia and around the world. Upcoming Events:

Exciting Advances in Azafaros Clinical Programs for NPC and GM Gangliosidoses Today, Azafaros shared an important update about their groundbreaking efforts to develop treatments for Niemann-Pick Disease Type C (NPC). Their Phase 2 RAINBOW trial for the investigational therapy nizubaglustat has shown promising safety and clinical data, with plans for a global Phase 3 trial to commence in mid-2025. Additionally, findings from the PRONTO natural history study are helping shape future research and offer critical insights into NPC and GM gangliosidoses. We are excited to share this progress with our community and encourage you to read the full letter now available for download below. Let’s keep building momentum towards better outcomes! To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online .

“Just go home and make memories” These words have rung in the ears of parents as a doctor drops a life-changing diagnosis of Niemann-Pick Type C Disease (NPC) to their children. Ali and Dave, parents of Seb, took that advice and went on adventurous trips, making many fun, silly and cherished memories with their son. Photo of Sebastian, Ali and Dave. Photo provided by family. Seb may not be around anymore, but memories with him still continue to make his family smile. To lots of families, just “making memories” was not enough. These words feel like giving up on their children’s lives. In a rare disease, parents face uncertainty almost daily. Parents can watch their children and question every little change. Is this a symptom? How will I manage it? Is the medication/clinical trial drug working? Or is it not? What else can I do to help? A study looked at the caregiving experiences of parents caring for children with a rare disease ( Cardinali et al., 2019 ). It highlights that uncertainty not only comes from having an ill child but also from the lack of information and therapy for the rare disease. Hope is on the horizon So much has changed in the world of NP-C since the foundation was established in 2009. There are multiple treatments  approved in the USA, and (fingers crossed) these treatments may become available to our Australian families in the future. There is hope. Source: Geralt  via Pixabay Hope can have a more positive impact than you might think. In a review of 5 studies , hope was found to have direct effects on the quality of life of adolescence with chronic illnesses (Mardhiyah et al., 2020). They found that children with more hope were likely to report having a better quality of life. With the establishment of the first Australian NP-C care and management guidelines  (manuscript currently under review), the ANPDF aim to further improve the lives of people living with NP-C. We have collaborated with community, allied health and medical professionals across Australia to create an impactful standard of care. This will guide clinicians on how to appropriately diagnose, manage and support individuals and families affected by NP-C. With no current approved treatments in Australia, this is the main opportunity we have to improve the healthcare of our NP-C community. Using hope for change With the possibility of future treatments, a national care guideline in production, and an increased awareness and uptake of carrier screening  (see this blog  for more information), the future care of people living with NPC is likely to change for the better. Winding down for 2024 To all who have been reading the NP-C Corner posts, thank you. It has been a great opportunity to share science with you all. This will be the last blog in the series for 2024. Stay supported, supportive and hopeful. Ellie

Mala Singh pictured with her beautiful family at the 2022 NPC Charity Gala. The Australian NPC Disease Foundation (ANPDF) is deeply moved to share the story of an incredible act of generosity and compassion. Recently, we received a donation of $5,000 from the family of Mala Singh. This contribution was made in accordance with Mala’s heartfelt wish to support the search for a cure for Niemann-Pick Disease. Mala’s journey with this rare and challenging condition was marked by extraordinary resilience and strength. Even during difficult times, she carried a vision of hope—a future where no one would have to face the struggles she endured. This generous donation is a reflection of her unwavering commitment to making that vision a reality. A Lasting Legacy Mala’s family has shared that her wish was to contribute to efforts aimed at finding a cure and improving the lives of those affected by Niemann-Pick Disease. This donation is not just a gift; it is a powerful reminder of the impact one person’s determination can have in creating a ripple effect of hope and change. Photo of Mala provided by family. This contribution will support our mission to advance research, advocate for treatments, and provide resources for families navigating this complex condition. It’s through acts of generosity like this that we can continue to push forward in the fight against Niemann-Pick Disease. Our Heartfelt Thanks To the family of Mala Singh: we extend our deepest gratitude. Your act of kindness and your willingness to honour Mala’s wishes inspire all of us at the ANPDF and the wider Niemann-Pick community. Your support brings us closer to a future where families won’t have to face the challenges of this disease. Photo of Mala provided by family. Mala’s story reminds us of the power of hope, compassion, and the incredible legacy one individual can leave behind. We are truly humbled to carry her vision forward. Together for a Cure Every donation to the ANPDF makes a difference, and Mala’s wish serves as a beacon of hope for the entire community. We invite others to join us in honouring her legacy by supporting our mission. Together, we can create a brighter future for families affected by Niemann-Pick Disease. To learn more about how you can contribute, please explore our website or reach out to us directly . Together, we are stronger, and together, we can work towards a cure. --- #HonouringMala #LegacyOfHope #NiemannPickDisease #TogetherForACure

The Blood-brain barrier (BBB) can block life-saving treatments from entering the brain. It is a protective barrier that coats the inner surfaces of the blood vessels in your brain. If molecules can’t get through this wall, then drugs can't move from the blood to the brain at all! If you want to treat a disease like Niemann-Pick type C (NPC), then that barrier can be a problem.   As NPC progresses, the loss of cells in the brain can lead to thinking and memory problems, as well as issues with speech, movement and balance. If medications don’t reach the brain, then we are not effectively treating the major symptoms of this disease.   Reading this, you might now be surprised when I say that the BBB is not bad.   Its role is actually quite important and has likely kept you alive and well even though you may not have realised it.   It’s main job: PROTECT THE BRAIN!    Think of the BBB as a very effective and strict security wall. It blocks 98% of all small molecules in the blood from entering the brain¹.   It’s very selective about what can pass through and rightly so! We don’t want harmful toxins getting into our brains if we can avoid them! Just like a security gate, molecules with the right features get in, while others stay stuck in the blood. With ageing and some neurodegenerative diseases such as Alzheimer’s disease, the BBB can become leaky or faulty². This means that the security wall has holes in it, and harmful things may be able to get through and hurt the brain, leading to neurological symptoms.   How do we get drugs through the BBB?   Scientists are trying a range of approaches to bypass this screening system.   In some cases, an injection into the spinal fluid via a lumbar puncture (i.e. medication injected via a needle in your back) has been used to bypass the BBB. As can be seen with the Australian patient being prepped for their infusion from the VTS-270 Clinical Trial in 2019 (see photo). Spinal fluid flows directly to the brain, so this method can be effective but is invasive. An NP-C treatment (2-Hydroxypropyl-Beta-Cyclodextrin) previously used this method to deliver drugs to patients³ in trials. Another method was developed by researchers using a virus. As NPC is caused by a lack of NPC protein, scientists decided to modify a virus that can get into specific BBB cells and cause the cell to make more protein⁴. Other research groups are using gene editing technology to genetically change these BBB cells, so they become NPC protein-making factories⁵!   Do we have treatments that cross the BBB in Australia? Miglustat  is an oral therapy that may be used to treat NPC. Miglustat therapy molecules can cross the BBB, which explains why some patients report improvements in neurological symptoms such as ataxia (muscle coordination difficulty), or dysphagia (swallowing difficulty).   It’s exciting to know that the US has approved two treatments, Miplyffa ( arimoclomol )  and Aqneursa (levacetylleucine )  that can cross the BBB, and potentially improve or stabilise neurological symptoms of NPC Disease.   However, these drugs are not yet to be approved for use in Australia, and more work is needed to get them approved and to our shores.   The ANPDF have a webinar coming up which focuses on how the ANPDF, and the Australian community can advocate for treatments to be made available to patients in Australia. Advocacy is so important in the rare disease space, and we would love for you to come along and learn more about how we can push for access to these new treatments.   Stay supportive and supported, Ellie References ¹ Partridge, 2005 ² Wang, 2020 ³ Ory et al., 2017 ⁴ Rasmussen et al., 2023 ⁵ Hede et al., 2021

Meizon has been granted both Orphan Drug Designation & Rare Pediatric Disease designation by the US FDA. Meizon is developing a portfolio of patented biologically active molecules for preventing, treating and potentially reversing the trajectory of brain disorders. DL33 is a therapeutic treatment for Dementia by replenishing deficient DL33 levels in the brain. On November 5, Meizon Innovations announced that the U.S. FDA has granted its drug DL33 both Orphan Drug Designation and Rare Pediatric Disease Designation for Niemann-Pick disease type C. These designations recognise DL33's potential to address significant unmet needs. Unlike other treatments, Meizon's approach is rooted in scientific evidence aimed at proving DL33's effectiveness in treating dementia. Initial studies in mice have shown promise in reversing dementia effects, but further research is needed to meet FDA standards. Next steps include animal toxicology testing, followed by human safety testing in a Phase 1 study. What is DL33? To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online .

Raised $2,130.00 Details Date/Time: October 1st to 30th, 2024 Draw Date and Time: Thursday 31st of October 2024 at 12:00 PM Location: Drawn online via rafflys Organiser: Deanna Carpino States available: VIC, SA, QLD, NSW, and TAS Terms and Conditions Terms and Conditions apply. This raffle is being held for Australian NPC Disease Foundation Inc ABN: 87767010514, c/- 3 Waller Street, Benalla, VIC, 3672. The Raffle commences on the 1st of October 2024, closes on the 30th of October 2024 and will be drawn on the 31st of October 2024 online at 12 pm. The draw will be conducted using App-Sorteos.com, an online tool. Ticket buyers do not have to be present at the draw. Winners will be contacted by email within 2 days after draw. Winners may also receive a phone call from the raffle organisers. Details of the Winner(s) will be displayed live at the Minds in Motion Charity Cocktail and displayed online at www.npcd.org.au. State(s) where tickets are on sale VIC. Persons under the age of 18 years are unable to enter. #SilverRaffle #raffle FIRST PRIZE: PS5 VIrtual Racing Simulator Bundle Pack ($5,000 rrp) PlayStation 5 Slim Console F1 24 - PS5 Game 6 Playseat Trophy Racing Chair Playseat Trophy Gearshift & Handbrake Holder Logitech G29 Driving Force Racing Wheel Logitech G Driving Force Shifter Winners: 1ST PRIZE WINNER S. Previti, Ticket Number 2WVH-ZTV1-VBC1R-54 (VIC) Thank you to our sponsors! Donation of first prize Goat Club Interested in organising your own raffle or fundraiser? This raffle was conducted both online and in-person.   Contact  us today for free advice and resources including how-to guides.

On October 18th, students at Alexandra Primary School unleashed their creativity for a special "Crazy Hair Day" fundraiser, all in support of Niemann-Pick Awareness Month! The event encouraged students to bring a gold coin donation in exchange for showcasing their wildest, wackiest hairstyles, transforming the school grounds into a sea of colorful, spiky, and unique hairdos. Organised by Carly, a dedicated ANPDF committee member and mum, this fundraiser not only allowed students to have some lighthearted fun but also served a meaningful purpose. Through the students' generous contributions, Alexandra Primary School raised $136 , which will help support the mission of ANPDF to spread awareness and offer support for those impacted by Niemann-Pick Disease. Niemann-Pick Disease is a rare, genetic condition, and initiatives like Crazy Hair Day are vital to shining a light on this lesser-known illness. The silver awareness ribbon for Niemann-Pick Disease symbolises the resilience of families and communities united in this cause, and Alexandra Primary School's Crazy Hair Day was a beautiful display of support. Thank you to all the students, teachers, and families who participated, and especially to Carly for organizing this fun and impactful event! Together, we’re making a difference, one crazy hairstyle at a time! Let's keep up the great work and continue to support our Niemann-Pick community! Special Thanks to the Alexandra Primary School for supporting the Niemann-Pick Community in Australia. Check out this beautiful school online here: Alexandra Primary School or join their conversation on facebook

We are thrilled to announce the results of our recent fundraiser: Poker Tournament for Niemann Pick! Thanks to the incredible support from the Benalla and wider Victorian community, we have raised a total of $2,300 to support research, families and projects for Niemann-Pick. 🏆 1st Prize Winner and last Man standing: Rob Mundy 🏆 2nd Prize: Les Cairns 3rd Prize: Damien Broughton 4th Prize: Tony Chetcuti 5th Prize: Jordan Smith Thank you to everyone who participated and contributed to the success of our fundraiser. Your generosity will help us continue to provide quality programs for our members. Let's keep up the great work and continue to support our Niemann-Pick community! Special Thanks to our Venue Partner, Benalla Bowls Club and to all our event sponsors and contributors: Benalla Golf Shop, Benalla Printing, Fruit n fare, Benalla Myotherapy, Mind body safe yoga, Benalla taxi group, Terry White Chemist, Paul Robinson, and Rob Mundy.

Read the letter from Mandos Health here: The Mandos Health October 2024 update highlights their progress in Niemann-Pick Type C (NPC) therapies. Key points include a productive FDA meeting on October 10, involving key stakeholders like Dr. Berry-Kravis and Dr. Porter. Mandos also celebrated NPC Awareness Month through community engagement and attended major summits like the NORD Breakthrough Summit. The Expanded Access Program continues to support NPC patients and their families. They remain committed to developing science-driven solutions for NPC. To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online .

As an organisation passionately dedicated to spreading awareness about Niemann-Pick Disease, we are thrilled to delve into the significance behind the emblematic silver ribbon and its role in advocating for those impacted by this rare and challenging condition. Brace yourselves for an enlightening journey into the history, symbolism, and profound importance of raising awareness for Niemann-Pick Disease! Jump to: Symbolism 🎗️ History 🎗️ Importance 🎗️ Advocacy Unveiling the Silver Ribbon: A Symbol of Hope and Unity The silver ribbon stands as a beacon of solidarity, embodying support, empathy, and encouragement for individuals battling Niemann-Pick Disease. Its shimmering hue symbolizes resilience, hope, and clarity amid the shadows of this debilitating illness. By proudly donning the silver ribbon, we not only show our support for those fighting this rare disorder but also broadcast a powerful message of unity and strength in our collective mission to raise awareness. The Noble Legacy of Awareness Ribbons: A Golden Thread of Advocacy The tradition of awareness ribbons traces back to a heartwarming act of compassion in the early 20th century. What began as a simple yellow ribbon tied in remembrance evolved into a universal language of support for various causes and conditions. The silver ribbon, specifically dedicated to Niemann-Pick Disease, continues this legacy by uniting individuals worldwide in a shared commitment to advocacy and understanding. Shining Light on Niemann-Pick Disease: Why Awareness Matters Niemann-Pick Disease, a rare genetic disorder impacting lipid metabolism, presents unique challenges for those affected and their families. By raising awareness through initiatives like the #SilverLight campaign, we illuminate this lesser-known condition, offering hope, resources, and a sense of community to those navigating the complexities of the disease. Education and awareness are pivotal in fostering early detection, research funding, and, most importantly, support for individuals living with Niemann-Pick Disease. A Call to Action: Empowering Change Through Advocacy As health professionals, families, and compassionate individuals, we wield the power to effect change through advocacy and awareness. By championing the silver ribbon as a symbol of unity and understanding, we amplify the voices of those touched by Niemann-Pick Disease, sparking conversations, driving research, and nurturing a community of care and support. Together, we can make a difference, one silver ribbon at a time. Join the Movement: Shine a Silver Light on the Fight Against Niemann-Pick Disease In conclusion, the silver ribbon serves as a powerful emblem of hope, empathy, and advocacy for individuals grappling with Niemann-Pick Disease. Its radiant symbolism transcends borders, languages, and differences, uniting us in a common cause to raise awareness, foster support, and ignite change. Let us embrace the silver ribbon as a beacon of light in the darkness, a symbol of strength in the face of adversity, and a testament to the unbreakable spirit of those touched by Niemann-Pick Disease. Together, we can wear our silver ribbons as badges of honour, as symbols of unity, and as beacons of hope for a future where Niemann-Pick Disease is not just a challenge but a conquered chapter in the book of human resilience. Let us rise, shine, and illuminate the path forward for a brighter, more informed tomorrow. Stay silver-strong, dear advocates! As you embark on your journey to raise awareness for Niemann-Pick Disease, remember that every silver ribbon you wear carries the weight of hope, the power of unity, and the promise of a brighter future for all those impacted by this challenging condition. Wear it with pride, share its story with passion, and let its message resonate far and wide. Together, we can make a difference—one ribbon, one voice, one heart at a time!