October 7, 2026 On 5 October 2026, Shionogi & Co., Ltd. announced that it had entered into an agreement to acquire IntraBio Inc., the company that developed AQNEURSA® (levacetylleucine). Shionogi is a global pharmaceutical company headquartered in Osaka, Japan. The company has identified rare disease as a growing area of focus and says the planned acquisition will combine IntraBio’s rare disease expertise with Shionogi’s global resources and reach. For the Niemann–Pick disease type C (NPC) community, the announcement is significant because AQNEURSA is approved to treat the neurological manifestations of NPC in the United States and European Union. Through the transaction, Shionogi would gain the global rights to AQNEURSA, including its intellectual property and commercialisation rights. What happens next? This is a proposed acquisition and the transaction has not yet been completed. It is subject to customary closing conditions and regulatory clearances, with completion currently planned between November and December 2026. Until the transaction closes, IntraBio will continue to operate as an independent company. IntraBio has advised that there will be no interruption to patients’ access to AQNEURSA and that existing patient support services and access programs will continue during the transition. What does this mean for Australia? At this stage, the announcement does not provide any new information about an Australian regulatory submission, Therapeutic Goods Administration (TGA) approval or broader access to AQNEURSA in Australia. ANPDF has requested an update through the International Niemann-Pick Disease Alliance (INPDA) on plans for Australia, including whether and when a submission to the TGA may be made. We are still awaiting further information and will share it with the Australian NPC community when it becomes available. The acquisition may provide greater global resources and reach over time, but it is too early to know what practical effect it may have on the Australian pathway. The acquisition agreement should not be understood as Australian approval or confirmation that the treatment will become available here. Our role during the transition ANPDF will continue to advocate for timely and equitable access to evidence-based treatments for Australians living with NPC. Our information and updates from IntraBio are provided through the International Niemann-Pick Disease Alliance (INPDA). INPDA will continue to work with IntraBio during the transition and establish relationships with Shionogi as the process moves forward. As Australia’s representative to INPDA, ANPDF will continue to ensure the needs and perspectives of Australian families are included in these discussions. We understand that announcements about treatments and company changes can bring both hope and questions. We will provide further updates as soon as there is confirmed information relevant to Australia. This update is for general information only and is not medical advice. Families with questions about treatment should speak with their treating clinician. Read Shionogi’s full announcement: Shionogi Continues Rare Disease Expansion With Planned Acquisition of IntraBio Inc. or the Press Release for Community here: 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. References: Shionogi & Co., Ltd. (2026, October 5). Shionogi Continues Rare Disease Expansion With Planned Acquisition of IntraBio Inc. https://www.shionogi.com/global/en/news/2026/10/20261005_02.html shionogi.com IntraBio Inc. (2024, September 25). IntraBio Announces U.S. FDA Approval of AQNEURSA for the Treatment of Niemann-Pick Disease Type C. https://intrabio.com/news/intrabio-announces-u-s-fda-approval-of-aqneursa-for-the-treatment-of-niemann-pick-disease-type-c/ IntraBio IntraBio Inc. (2026, January 21). IntraBio Receives European Commission Approval of AQNEURSA® for the Treatment of Niemann-Pick Type C Disease. https://intrabio.com/news/intrabio-receives-european-commission-approval-of-aqneursa-for-the-treatment-of-niemann-pick-type-c-disease/

New Phase 3 results for Trappsol Cyclo in NPC Cyclo Therapeutics has shared the first results from its global Phase 3 TransportNPC study. The study tested Trappsol Cyclo as a possible treatment for Niemann-Pick disease type C (NPC). The study involved 94 people at 27 sites across 13 countries. Australians living with NPC were among those who took part, making our community directly involved in this important global research. This is one of the largest and longest placebo-controlled treatment studies conducted in NPC. ANPDF thanks every person who took part, along with their families, researchers and clinical teams. We especially acknowledge the Australian participants and families who contributed to the trial. Taking part in a clinical trial is a major commitment, and their involvement helps build knowledge and move NPC research forward for the whole community. What did the main study find? The study measured changes in four important areas of NPC over 96 weeks. When all participants were considered together, the results favoured Trappsol Cyclo over placebo. However, the difference was not statistically significant. This means the study did not meet its main goal, known as the primary endpoint. This does not necessarily mean that the treatment had no effect. It means the study could not show, with the required level of confidence, that the difference was caused by the treatment rather than chance. Why are rare disease trials challenging? Statistical significance is harder to achieve when a study has a small number of participants. Although 94 participants is a large study for NPC, it is still small compared with trials for common conditions. NPC also affects each person differently. Age, symptoms, stage of the condition and other treatments can all influence how quickly NPC changes. These differences can make a treatment effect harder to detect. A small trial may miss a real benefit because there are not enough participants to separate the effect of the treatment from the natural differences between people. However, a result that is not statistically significant cannot be treated as proof that a medicine works. Researchers and regulators must look closely at the full results, including the size of any benefit, safety findings, subgroup results and other supporting evidence. What was found in participants using other treatments? Before the study began, researchers planned to look separately at participants who were also taking miglustat and/or leucine. This group represented about 83% of all participants. In this group, Trappsol Cyclo showed a statistically significant benefit on the same NPC severity scale. This is an encouraging finding because the analysis was planned in advance and included most of the study population. The full data will be needed to better understand why this group responded differently and what the result may mean for people receiving other NPC treatments. Important survival findings The study also reported significant findings for children with infantile-onset NPC. Researchers compared children treated with Trappsol Cyclo with similar patients from the International Niemann-Pick Disease Registry. This analysis found an 85% lower risk of death among those who received Trappsol Cyclo. A second analysis included additional information from published studies of NPC. In that comparison, treatment was linked with a 94% lower risk of death. These findings are especially important because infantile-onset NPC can progress quickly and has a high risk of early death. If the survival findings are confirmed, they could represent a meaningful advance for some of the youngest and most seriously affected people in our community. However, these results need to be interpreted carefully. The Trappsol Cyclo group was compared with external and historical information, rather than with the placebo group in the trial. Even when patients are carefully matched, there may be differences between the groups that affect the result. The size of the reported survival benefit makes these findings important and worthy of close attention. The complete data and further review will help show how strong the evidence is. What was reported about safety? Cyclo Therapeutics reported that Trappsol Cyclo was generally well tolerated during the 96-week study. Serious adverse events occurred more often in the Trappsol Cyclo group than in the placebo group. However, serious events considered to be related to treatment were reported at similar rates in both groups. One severe treatment-related case of hearing loss in both ears was reported. No treatment-emergent adverse events resulted in death. The complete safety results will be important in understanding the possible benefits and risks of treatment. What happens next? Cyclo Therapeutics plans to submit a New Drug Application for Trappsol Cyclo to the US Food and Drug Administration in the fourth quarter of 2026. These are topline results only. The complete study data and survival analyses still need to be fully reviewed. The announcement does not mean the treatment has been approved or that access will change immediately. ANPDF welcomes progress toward more treatment options for people living with NPC. We will continue to follow the results closely, seek clear answers on behalf of Australian families and share further information as it becomes available. Read the full press release from Cyclo Therapeutics, or the Letter for Community here: 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. References: Rafael Holdings. (2025, June 18). Rafael Holdings Announces Continuation of its Phase 3 Study for the Treatment of Niemann-Pick Disease Type C1 (NPC1) Following Independent Data Monitoring Committee (DMC) Review of Prespecified 48-Week Interim Analysis. https://rafaelholdings.irpass.com MarketScreener. (2025, June 12). Rafael Holdings: Financial and Clinical Pipeline Update. https://www.marketscreener.com GlobeNewswire. (2025, March 26). Rafael Holdings Completes Merger with Cyclo Therapeutics Following Shareholder Approvals. https://www.globenewswire.com GlobeNewswire. (2025, June 11). Rafael Holdings Reports Third Quarter Fiscal 2025 Financial Results. https://www.globenewswire.com

The Australian NPC Disease Foundation (ANPDF) was proud to join The Royal Children’s Hospital Melbourne for a recent Grand Rounds presentation highlighting Australia’s first Standard of Care for Niemann–Pick disease type C (NPC). Presented by Ellie Van Velsen, Dr Sharmila Kiss and ANPDF President Deanna Carpino, the session explored why the Standard of Care was needed, how it was developed and what it could mean for people living with NPC and their families. Addressing gaps in NPC care NPC is a rare, progressive genetic condition and a known cause of childhood dementia. Its symptoms can vary considerably between individuals and may appear at different ages, making the condition difficult to recognise and diagnose. Limited awareness and clinical understanding can contribute to delays in diagnosis, fragmented care and significant pressure on families as they navigate a complex healthcare system. To help address these challenges, ANPDF funded the NPC Care and Guidelines Project in 2024. The project brought together more than 40 clinicians, allied health professionals and community representatives from across Australia. Their combined expertise and lived experience informed the development of an Australian Standard of Care tailored to our healthcare system. What does the Standards of Care include? The published framework provides practical guidance to support the recognition, diagnosis and ongoing management of NPC. Its key components include: Consensus-based guidance for clinicians and allied health professionals A diagnostic algorithm to help support earlier identification and referral A multidisciplinary care framework Guidance for managing NPC across different ages and stages of the condition Recognition of the importance of shared decision-making and the experiences of patients, families and carers For families, the Standard of Care provides a clearer understanding of what coordinated NPC care should look like. It can also help families and carers advocate for appropriate referrals, multidisciplinary support and informed decision-making. For health professionals, it offers an Australia-specific resource to guide care and improve consistency between services and states. A collaborative achievement This project would not have been possible without the clinicians, allied health professionals, researchers, families and carers who generously contributed their knowledge, time and experience. The Standard of Care was funded by ANPDF through community donations. It demonstrates what can be achieved when medical expertise and lived experience come together around a shared goal: improving care and outcomes for Australians living with NPC. Publication of the Standard of Care is an important milestone, but it is also the beginning of the next stage. ANPDF will continue working with healthcare professionals, hospitals and community partners to support awareness, adoption and practical implementation across Australia. Watch the Grand Rounds presentation The full presentation, An Australian Standard of Care for Niemann–Pick Disease Type C, is available through The Royal Children’s Hospital Grand Rounds Online. Click the button below or click here. You can also read the published Standard of Care and access further information through the ANPDF website. View the Australian NPC Standard of Care Read the full publication in the Internal Medicine Journal

Receiving a diagnosis of a Niemann-Pick disease can be overwhelming, with families often facing a steep learning curve as they try to understand the condition and what it means for their future. To help make this journey a little easier, we are pleased to share a new animated resource developed specifically for newly diagnosed families and wider community audiences. The animation provides a clear and accessible introduction to Niemann-Pick diseases, helping explain complex information in an easy-to-understand format. Importantly, the animation is designed not only for individuals and families affected by Niemann-Pick diseases, but also for friends, extended family members, educators, healthcare professionals, and anyone wanting to learn more about these rare conditions. Supporting Families Through Knowledge Access to reliable information can make a significant difference following diagnosis. This animation was created to provide families with accurate, easy-to-follow information at what can often be a challenging and emotional time. It also highlights the importance of connecting with patient organisations and support networks, which play a vital role in providing information, advocacy, and community support. A Collaborative Effort The animation was developed through a collaboration between the Platt Laboratory at the University of Oxford and patient organisations from across the Niemann-Pick community. The project was supported by a Wellcome Trust Enriching Engagement Grant. By bringing together scientific expertise and lived experience, the animation aims to ensure information is both accurate and meaningful for families. Building on Previous Success This new resource follows the success of the animated film What are Lysosomal Storage Diseases?, which has been viewed more than 668,000 times within 19 months of release. The strong engagement with translated versions of that animation demonstrated the value of accessible educational resources and the importance of making information available to families around the world. We hope this latest animation will similarly help increase awareness and understanding of Niemann-Pick diseases while supporting affected individuals and families. Watch the Animation You can view the English-language animation here: 🔗 https://youtu.be/30sKbukgP88 We encourage our community to watch, share, and use this resource to help raise awareness and understanding of Niemann-Pick diseases throughout Australia and beyond.

Understanding the real-life experiences of individuals and families affected by Niemann-Pick Disease Type C (NPC) is essential to improving care, research, and future treatment development. A new research initiative led by Janney Wang from the University of Sydney is aiming to do exactly that—by listening directly to the voices of people living with NPC, their carers, and their families. This work focuses on capturing the everyday realities of living with NPC, including: The biggest day-to-day challenges faced by patients and families Experiences with current therapies and treatments Gaps in care or support systems Perspectives on what future treatments should prioritise By contributing your experiences, you can help ensure that future research and therapeutic development are more closely aligned with what truly matters to the community. Janney and her research team are inviting members of the NPC community to take part by sharing their perspectives. You can also connect directly with her to learn more about the project and its aims. 🎥 Learn more about the project: Verbal Business Card Patient - Janney | Videos & Movies on Vimeo 🔗 Connect with Janney: Facebook link: Facebook LinkedIn Link: Janney Wang | LinkedIn Your voice is incredibly valuable, and your contribution can help shape a better future for those affected by NPC. Please note: This study is shared for informational purposes only. The Australian NPC Disease Foundation (ANPDF) does not endorse specific research. Participation is voluntary, and we encourage you to review the survey information, including how your data will be used, before taking part.

Melbourne, Australia – April 23, 2026 The Australian NPC Disease Foundation is proud to announce the publication of Australia’s first national clinical guidelines for Niemann-Pick disease type C (NPC). This milestone marks an important step forward in improving the recognition, diagnosis and care of individuals living with NPC across Australia.   A collaborative national effort In 2024, ANPDF funded the NPC Care and Guidelines Project, bringing together more than 40 clinicians, allied health professionals and members of the NPC community. This collaborative effort, led by Ellie Van Velsen, has resulted in a comprehensive, Australia-specific standard of care. The guidelines include: 23 consensus recommendation statements A diagnostic algorithm to support earlier identification A multidisciplinary care framework to guide ongoing management Together, these outputs aim to provide a consistent and informed approach to NPC care across the country.   Why these guidelines matter NPC is a rare, complex condition and a recognised cause of childhood dementia. Despite this, awareness remains limited, and many individuals experience significant delays in diagnosis. These new guidelines have been developed to: Support clinicians in recognising and diagnosing NPC earlier Provide clear, standardised approaches to care and management Improve coordination between healthcare professionals Enhance the overall healthcare experience for patients and families Importantly, the project has incorporated the perspectives of families and carers, recognising their key role in care and decision-making. To view the published paper by Tchan et al., 2026, click here   Empowering families and strengthening care Beyond supporting healthcare professionals, these guidelines are also a valuable resource for families. By increasing understanding of NPC and the recommended care pathways, individuals and caregivers are better equipped to advocate for their needs within the healthcare system. “These guidelines give those who live with NPC disease and their families a lifeline when it comes to diagnosis treatment and needs for those affected” said Mandy Whitechurch, Founder and immediate past president. “It gives medical professionals who are uneducated about NPC a process to follow to ensure all patients are aligned with services needed”. Looking ahead ANPDF is currently working on developing additional community-friendly resources to support families in understanding and using the guidelines in everyday care. If you have any questions about the guidelines or would like to learn more about this project, please reach out to the team at: projects@NPCD.ORG.AU   About ANPDF The Australian NPC Disease Foundation is dedicated to supporting individuals and families affected by NPC, while advancing research, awareness and improved standards of care across Australia.   About the Project The NPC Care and Guidelines Project was created to address the significant information gap in the Australian literature about how to identify, diagnose and manage NPC within the Australian healthcare context. Funded by community donations, this project aimed to create resources that could lead to more efficient, supportive and reliable healthcare experiences for Australian patients living with NPC and their families. Please note, the standard of care provides consensus recommendations made by clinicians, families and current literature. It should not substitute for government-approved or personalised healthcare advice from a medical professional.

For many families in the rare disease community, social media has become a powerful advocacy tool. It helps raise awareness, connect with other families, influence research, and push for change. For years, parents and caregivers have been the voices telling these stories — often long before their children were able to understand them. But what happens when your affected child grows up and starts using social media themselves? This moment can bring pride, uncertainty, and sometimes discomfort. Advocacy that once felt necessary and protective may suddenly feel complicated. When advocacy meets independence As children grow into teenagers and young adults, they begin to shape their own identities — online as well as offline. They may read posts written years earlier, see photos shared with good intentions, or come across deeply personal stories told during moments of crisis. For parents, this can trigger difficult questions: Did I share too much? Would my child have wanted this story told this way? How do I balance advocacy with their right to privacy? There is no single correct answer — and many families are navigating this in real time. Shifting from speaking for  to speaking with One of the biggest transitions in advocacy is moving from being your child’s voice to becoming their ally. Where possible, involving your child in decisions about what is shared can be empowering. Some young people want their story to be visible; others prefer clear boundaries. Both are valid. Simple steps can help: Asking permission before posting Talking openly about older content Agreeing together on what feels OK to share publicly Respecting a “no”, even when advocacy feels urgent This shift can be emotional, but it also reflects growth, trust, and respect. The permanence of the digital world Social media does not forget. Posts shared years ago can resurface unexpectedly, sometimes outside the supportive rare disease community. That doesn’t mean families were wrong to share — advocacy has driven enormous progress. But it does mean it’s worth pausing to reflect on how earlier posts might be perceived by a young person today, or by their peers. Some families choose to archive older content, anonymise posts, or change how they share going forward. Others leave content online but add new context. All of these choices are valid. Advocacy is allowed to evolve Advocacy does not have to look the same forever. What worked when your child was five may not work when they are fifteen. You may move from personal storytelling to broader awareness, education, or policy-focused advocacy. You may choose quieter forms of involvement. You may step back — or your child may step forward themselves. None of this means you’ve failed the cause. It means you’re adapting to a new chapter. Holding space for mixed emotions It’s normal to feel conflicted. Advocacy often comes from love, urgency, and fear — and letting go of control can be hard. It’s also normal for young people to have mixed feelings about their diagnosis, visibility, and online presence. What matters most is keeping communication open, leading with empathy, and remembering that both advocacy and  privacy can coexist. A shared journey At its heart, rare disease advocacy is about dignity, respect, and improving lives. As our children grow, those values remain — even if the way we express them changes. Listening, adapting, and walking alongside our children as they find their own voice may be one of the most powerful forms of advocacy there is.

When you hear the words “Niemann-Pick disease” , you might think first of the medical facts – a rare genetic condition, no cure, limited treatments. But behind every diagnosis is a family living, loving, and creating moments that matter. For Renee, mum to three children diagnosed with Niemann-Pick type C (NPC) – Hudson (10), Holly (9), and Austin (7) – life is not defined by the disease, but by the joy, resilience, and hope that her family carries forward each day. In her own words: “We want to have a bright future to look forward to. My children deserve to have a life full of laughter and love. I hope they can dream big, hit all their milestones and live long and happy lives together. My kids are so much more than their diagnosis. Our lives might look different but we are out here making every day count!” Renee’s voice is a reminder of what lies at the heart of our community: love, courage, and the determination to make every moment matter. Families like hers show us that living with Niemann-Pick is about so much more than the challenges — it is about cherishing laughter, celebrating milestones, and holding on to hope for a brighter future. At the Australian NPC Disease Foundation (ANPDF), we are committed to amplifying these voices. They are the stories that fuel advocacy, drive research, and remind the world why finding answers for Niemann-Pick is so important. To Renee, Hudson, Holly, and Austin – thank you for sharing your journey. Your courage inspires us all. While we approach Rare Disease Day, we would love to hear from more families in our community. Sharing your story is one of the most powerful ways to raise awareness and ensure that every voice is heard. 📩 If you would like to share your journey with us, please get in touch — together, we can amplify your voice. 🧡 Together, we will continue to fight for more awareness, better treatments, and, one day, a cure.

Timmy Lloyd passed away 2nd December 2025. It is with deeply broken hearts that we share the passing of our beloved Timmy Lloyd — known to so many as our RockGod. Born on 11 September 1989 , Timmy left us on 2 December 2025 , surrounded by love, music, and the people who cherished him. From a young age, Timmy’s life was shaped by the complex and challenging journey of living with Niemann-Pick Disease Type C (NPC), a rare, progressive neurological condition. When Timmy and his older brother, Matthew Lloyd, were diagnosed, life shifted dramatically for their family. Their mum, Mandy Whitechurch , was told there was no available treatment and to simply “go home and make memories” — a devastating message that led her to fight for change and ultimately establish the Australian NPC Disease Foundation (ANPDF) [1]. “You don’t have your kids to outlive them,” Mandy once said — a raw expression of love, grief, and courage shared during an interview that brought national attention to NPC [1]. A Life Lived with Courage and Heart Timmy’s life was never defined by the limitations of NPC. Instead, it was shaped by the resilience, warmth, and unmistakable spark that he carried with him every single day. Diagnosed at age 18, Timmy was given a grim prognosis and a short life expectancy [1]. But Timmy defied expectations again and again, thanks to the powerful combination of expert care, family love, community support, and the unbreakable strength that became his trademark. Over the years, Timmy and his family shared their journey through multiple national media stories, helping to raise awareness of NPC and the urgent need for research [1][2][3]. Their advocacy helped build a stronger support network for families across Australia, with the ANPDF now assisting more than 30 families nationwide [3]. Held in a Circle of Love Throughout Timmy’s life, many people played a vital role in ensuring he was surrounded by comfort, dignity, and joy. Mandy, Mick, and Matthew wish to express their deepest gratitude to: Matt, Cliff, Skye, Jacinta, Ebony, Teagan, Ray, and Jordan , as well as the many family members, friends, carers, and community supporters who enriched Timmy’s life. Your kindness was a constant source of strength — for Timmy and for the whole family. Timmy’s Lasting Legacy Though Timmy has taken his final bow, his impact is far-reaching and enduring. His life inspired the creation and growth of the ANPDF, a lifeline for families affected by NPC. His story helped bring national attention to childhood dementia and rare diseases. His courage continues to energise advocacy for better treatments and access to care. And his spirit — full of music, humour, and quiet strength — lives on in the hearts of everyone who knew him. Farewell, Timmy As we say goodbye, we imagine Timmy beginning his “farewell tour” — free from pain, surrounded by the music he loved, and remembered forever as the legend he truly was. Rest peacefully, RockGod. Your light will carry on through all of us. 🎸✨ niemannpickC gonetoosoon inlovingmemory Photos shared with permission from Timmy's family. 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 NPC in Australia Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online . References ABC News. Childhood Alzheimer’s: Research into rare disease may hold key to treating dementia . ABC Coverage & feature articles on the Lloyd family and Niemann-Pick Disease. InLife Independent Living. NPC Gala and family story features .

1/03/2026: This article has been updated with changed members. Last Sunday, during our Annual General Meeting, we officially welcomed both new and returning committee members for the year ahead. It was an energizing moment. A virtual room filled with individuals who care deeply about families living with Niemann-Pick diseases. They are ready to roll up their sleeves and help drive real impact. Our community is strongest when passionate people step forward. This year’s committee reflects a beautiful mix of lived experience, professional expertise, and genuine commitment to our mission. Mandy Whitechurch, Founder and Immediate Past President A Special Thank You to Mandy Whitechurch We also want to acknowledge Mandy Whitechurch , who has stepped down from her role as President and into the position of Immediate Past President . Mandy has led the ANPDF with heart, steadiness, and deep personal dedication. Her leadership has guided the Foundation through growth, change, and some of our most important advocacy moments. We’re grateful she will continue offering her wisdom and support in her new role, ensuring a smooth transition and continuity for the work ahead. Executive Committee Members President – Deanna Carpino Vice-President – Sarvesh Soni Treasurer – Salman Alfarizi Secretary – Ted Sherwood Immediate Past President – Mandy Whitechurch General Committee Members Committee Member – Alexandre Domingue Committee Member – Mary Calcagno Committee Member – Anusha Kafeel Committee Member – Carly Heath Committee Member – Felicity Munro Committee Member – Anne La Committee Member – Girish Rathor Committee Member – Marian Shoebridge Assistant Treasurer – Nathalia Rios Committee Member – Pip Johnston Committee Member – Vince Demarte Contractor Support Project Coordinator – Ellie Van Velsen Our committee members volunteer their time, energy, and expertise. They ensure families are supported, projects move forward, and our advocacy remains strong. We are deeply grateful to everyone who has stepped up to serve. Looking Ahead: A Year of Purpose and Collaboration As we embark on this new year, we are filled with hope and determination. The ANPDF community is committed to making a difference. Together, we will tackle the challenges ahead and celebrate the victories, both big and small. Engaging with the Community Engagement is key to our success. We encourage everyone to participate in discussions, share stories, and connect with one another. Your voice matters. It helps us understand the needs of families affected by Niemann-Pick diseases. Fundraising Initiatives Fundraising is essential for our ongoing work. We will be launching several initiatives throughout the year. These efforts will help raise awareness and funds for research, support services, and advocacy. We invite you to join us in these efforts. Together, we can make a significant impact. Advocacy and Awareness Advocacy is at the heart of what we do. We will continue to raise awareness about Niemann-Pick diseases. Our goal is to ensure that families receive the support they need. We will work tirelessly to influence policy changes that benefit our community. Gratitude to Our Supporters We want to take a moment to express our gratitude to all our supporters. Your contributions make our work possible. Thank you for standing with us as we strive for a better future for families affected by Niemann-Pick diseases. Here’s to a purposeful, collaborative, and impactful year ahead for the ANPDF community. If you wish to #jointhefight for a cure of NP-C, find out How to Help today or subscribe to stay up to date with future opportunities.

Read the full Community Update from Mandos Health here: Mandos Health has shared an October update highlighting exciting progress in Niemann-Pick type C (NPC) research. Their investigational therapy, adrabetadex , continues to show promise, with new data suggesting a substantial survival benefit  in infantile-onset NPC1 and evidence of improved cholesterol trafficking . Their survival study was recognised as an “Abstract of Distinction”  at the American Neurological Association Annual Meeting — a significant milestone as Mandos moves toward a New Drug Application  submission. Mandos Health also reaffirmed its commitment to the Expanded Access Program , ensuring continued access for families. It was great to meet the Mandos team in person at the INPDA Summit in Argentina , where their dedication to the NPC community was clear. 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 .

Dr Ya Hui Hung presented at the 2025 INPDA Bi-Annual Meeting. Australia is emerging as a hub of innovation in rare disease research, and one project to watch is the mRNA gene therapy program  led by Dr. Ya Hui Hung  at The Florey Institute. This initiative aims to harness mRNA technology to address Niemann-Pick Disease Type C (NPC)  — a neurodegenerative condition often likened to a form of childhood dementia. Where the research stands Building on the success of mRNA vaccines and therapies in other areas, Dr. Hung’s work explores how this platform could deliver functional copies of genes that are impaired in NPC. The ultimate goal is to restore normal cellular function and slow or stop the progression of this devastating childhood dementia. Dr Ya Hui Hung presented at the 2025 Australian Niemann Pick Conference. At the recent INPDA Biannual Meeting (held in Argentina) and the Australian Niemann-Pick Conference (held at The Florey) , Dr. Hung shared updates on her team’s progress. The presentation spotlighted how Florey researchers are exploring strategies to deliver functional mRNA across the blood-brain barrier , restoring neurological function in NPC models. Dr. Hung first proposed the mRNA approach as early as 2018 — before mRNA therapeutics gained prominence with COVID-19 — reflecting her foresight and dedication. Her work is backed by meaningful support: seed funding came via ANPDF (spurred by Mandy Whitechurch’s advocacy), and further backing includes mRNA Victoria, Australia’s Medical Research Future Fund, and the Percy Baxter Charitable Trust. What This Means for NPC Families “We are moving into preclinical study of an mRNA gene therapy, working on how to get it across the blood-brain barrier into the brain to restore neurological function.” — Dr. Ya Hui Hung The Florey For families living with NPC, this research is more than academic — it’s a beacon of possibility. While still early, every step forward helps build momentum and brings us closer to therapeutic options that could change lives. Challenges & Next Steps Delivering across the blood-brain barrier:  This is a core technical hurdle in neurologic gene therapies, and Dr. Hung’s team is actively developing strategies to surmount it. Preclinical validation:  Before any human trial, the therapy must demonstrate safety and efficacy in relevant models. Scaling and regulation:  If preclinical work succeeds, the next phases will involve scale-up, regulatory clearance, and ultimately translation into clinical trials. Beyond the Lab: Neuartica & A-Maze-Ing Brain Outside of her laboratory work, Ya Hui has joined ANPDF’s General Manager, Deanna Carpino , to create NeuArtica , an initiative that blends neuroscience and art. Their first project, A-Maze-Ing Brain , uses creative expression to spark conversation about complex neurological diseases like Niemann-Pick Diseases. Dr Ya Hui Hung presented at the 2025 INPDA Bi-Annual Meeting. Learn More & Get Involved You can find out more about mRNA and Dr Hung’s work here: 🔬 Learn about Dr Hung’s mRNA gene therapy project 📖 Read more about Florey research into rare diseases   👀 Follow NeuArtica on Instagram for more updates About Niemann-Pick Disease, Type C Niemann-Pick Disease, Type C (NPC) is a rare, progressive, and life-limiting genetic disorder. Often referred to as “childhood dementia,” NPC affects the body’s ability to transport and store cholesterol and other lipids, leading to severe neurological decline. Symptoms can include difficulties with movement, learning, memory, swallowing, and speech. NPC affects children and adults alike, with no approved cure currently available in Australia. Learn more at Information and Support . About The Florey The Florey Institute of Neuroscience and Mental Health is a leading Australian centre dedicated to understanding brain disease and developing therapies. Dr. Ya Hui Hung is a Senior Research Fellow leading the mRNA NPC program, aiming to pioneer a novel therapeutic approach in the Australian rare disease landscape. About the Australian NPC Disease Foundation (ANPDF) The ANPDF is the national organisation supporting families impacted by Niemann-Pick disease in Australia. We work to raise awareness, drive research, advocate for access to treatments, and build community support. Learn more at About Us .