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Shining a Silver Light for Niemann-Pick Families October is almost here — and with it comes our Silver Ribbon Awareness Month . This is when our community comes together to raise awareness for two rare but devastating conditions: Niemann-Pick disease type C (NP-C)  and Acid Sphingomyelinase Deficiency (ASMD) . In this article: Understanding NP-C | Understanding ASMD | Key Events | Get Involved Understanding NP-C NP-C is a rare, progressive, and life-limiting neurological disease caused by the accumulation of lipids (fats) inside cells.It can appear at any age — from infancy to adulthood — and affects the brain, liver, spleen, and other organs. On average, it still takes five years  to receive a diagnosis. That’s why awareness is critical. Early recognition and intervention can make a difference in care and quality of life. Learn more about NP-C ➜ Understanding ASMD ASMD, formerly known as Niemann-Pick disease types A and B, is caused by a deficiency in the enzyme acid sphingomyelinase. This leads to the harmful build-up of sphingomyelin in multiple organs, including the lungs, liver, spleen, and brain. The condition ranges from severe infantile forms to slower-progressing adult forms — but in every case, early detection and supportive care matter. Learn more about ASMD ➜ This Year's Key Events Throughout October, we’ll be bringing our community together with events, advocacy, and storytelling — including: Charity Golf Day – Fri 3 Oct A day of friendly competition, community connection, and fundraising for research and family support. Registration is open now! Wear Silver Day – Fri 17 Oct Australia goes silver to raise awareness for Niemann-Pick diseases. Annual Poker Tournament – Sat 19 Oct Play for a purpose — with proceeds supporting ANPDF’s programs and research funding. Lysosomal Storage Summit – 24–26 Oct Our Project Coordinator, Ellie, will present the Australian Care Guidelines for NPC. ANPDF will also host a booth to connect with researchers, clinicians, and global advocates. Research in Australia We are proud to work alongside two Australian research partners developing promising treatments: The Florey Institute of Neuroscience and Mental Health  – advancing research into therapeutic approaches for NPC. Meizon Innovations  – progressing pre-clinical development toward potential treatment options. Your support this October helps sustain and accelerate this vital work. What Would You Fund First? We’ll share the results during Silver Ribbon Month and with our research partners — so they can see what matters most to our community. How You Can Get Involved Now You don’t have to wait until October — here’s how you can help today: Save the Dates  – Mark your calendar for our October events. Join Our Mailing List  – Be the first to hear about awareness month news and stories. Download Our Toolkit  – Share ready-to-go social media graphics and posters. Spread the Word  – Talk to friends, family, and colleagues about NPC and ASMD. Together, let’s shine a silver light on NPD and make a difference! Together, We Shine a Light The silver awareness ribbon symbolises hope, unity, and determination for families impacted by Niemann-Pick diseases. By wearing it — and sharing its meaning — you help raise awareness, drive earlier diagnosis, and push research forward. Let’s make October 2025  a turning point for NPC and ASMD awareness. 🎗 Join us — together, we shine a light. Download Awareness Toolkit ➜   Donate Now ➜   Golf Day Registration ➜

August 18, 2025 – Melbourne, VIC At last Sunday’s meeting, we formally accepted the resignations of the following committee members: Annamol (Anna) Johny, Jov Moratalla, Riddhi Gopinath, and Seema Patil We sincerely thank each of them for the time, energy, and commitment they have given to the ANPDF and our community. While it’s always difficult to farewell dedicated members, this transition also opens the door for new voices to join and help guide our work. We’ll share more updates on committee roles and opportunities to get involved soon.

We’re proud to share that the Australian NPC Disease Foundation (ANPDF) officially became a member of the Neurological Alliance Australia (NAA) on 16 June 2025. The NAA is a national coalition of not-for-profit organisations representing more than 600,000 Australians living with progressive neurological or neurodegenerative diseases. By joining this collective, ANPDF is stepping into a stronger national voice—one that is committed to improving the lives of people affected by complex, often rare, neurological conditions. This is a significant milestone for our community. As the voice for Australians impacted by Niemann-Pick disease, our inclusion in the NAA enables us to: Advocate together for policies and funding that address unmet needs across neurological conditions Share knowledge and strengthen networks with other organisations tackling rare and progressive diseases Ensure Niemann-Pick disease is seen and heard in national conversations about neurology, disability, aged care, research and healthcare reform Joining the NAA also means Niemann-Pick families are now part of a broader movement calling for urgent action in key areas—including timely diagnosis, access to coordinated care, investment in therapies, and sustainable long-term support. We are incredibly grateful to the NAA member organisations for welcoming us and look forward to working together to raise awareness, influence systemic change, and create a future with hope for all affected by neurological disease. Onward, together. — The ANPDF Team

Ali, Mandy, and Deanna at the 2025 Australian Niemann-Pick Conference. On June 12–13, the Australian NPC Disease Foundation (ANPDF) proudly hosted the 2025 Australian Niemann-Pick Conference —a two-day hybrid event held at The Florey Institute of Neuroscience and Mental Health in Melbourne and streamed online for a global audience. Bringing together families, clinicians, researchers, allied health professionals, and advocates , the conference served as a powerful reminder of what community-driven collaboration can achieve. With over 50 attendees participating in person and many more joining virtually, this year’s program was our most ambitious and inclusive to date. 🔍 Highlights Included: 🧡 Keynote by Prof. Marc Patterson , who shared a global perspective on the past, present, and future of Niemann-Pick Type C (NPC) treatment and advocacy. 🧠 Cutting-edge research updates  from leaders like Dr Ya Hui Hung (mRNA gene therapy), Dr Juliana Chaves (patient-derived cell models), and Dr Michael Tchan (emerging therapies). 🎤 Lived experience talks  from Ali Malone and Mandy Whitechurch reminded us of the humanity behind the science, touching hearts and inspiring action. 📘 Launch of Australia’s first Standard of Care for NPC , led by Ellie Van Velsen, marking a historic milestone in NPC care. 🎨 Creative reflections  from Caroline Liuzzi (CATA) explored how art therapy supports legacy-building and emotional wellbeing in paediatric palliative care. 📈 Clinical and advocacy sessions , including updates from Azafaros, IntraBio, and global organisations such as the INPDA and INPDR, underscored the power of collaboration across borders. Felicity interviews Caroline from Creative Art Therapy Australia during the final presentation of the conference, with Caroline's artwork prominently displayed beside them. 🍽️ Community Dinners This year, we also hosted three special dinners for families and carers  on Wednesday, Thursday, and Friday evenings . These gatherings provided much-needed space for connection, laughter, reflection, and informal peer support. For many families, they were a rare opportunity to sit around the table with others who understand the journey of living with or caring for someone with NPC. Our families gathered at Bird’s Basement for a lively farewell dinner, enjoying music and great company. 🎥 Watch the Conference On-Demand If you missed the conference—or want to revisit your favourite sessions—some presentation recordings are now available via our official YouTube playlist: 📺 Watch here : 2025 NPC Conference Playlist 🤝 With Thanks to Our Sponsors We are incredibly grateful to the sponsors and partners who made this event possible: Venue Partner : The Florey Institute of Neuroscience and Mental Health Major Sponsors : Cyclo Therapeutics, IntraBio Contributor Sponsors : Azafaros, Capital Industry Group Printing Sponsor : Enviro Print Group Gift Bag Sponsors: OzDare, Goat Club Grant Support : National Disability Conference Initiative Grant  funded by the Australian Government Department of Social Services Thanks to their generosity, the ANPDF was able to support Niemann-pick families  to travel from regional areas and interstate to attend in person—covering flights, accommodation, most meals, and event access. ⛳ Up Next: ANPDF Charity Golf Day Our next big event is already teeing up! Join us for a relaxed and impactful day on the green at the 2025 ANPDF Charity Golf Day , raising vital funds for families impacted by Niemann-Pick disease. 📅 Friday, 3 October 2025 📍 Mt Derrimut Golf & Community Club, Melbourne 🏌️‍♂️ Limited spots available! 👉 Learn more and register: www.npcd.org.au/golfday 💬 Final Reflections This year’s conference was a testament to the strength of the Niemann-Pick community—grounded in lived experience, led by science, and powered by hope. To everyone who contributed, participated, or tuned in from afar: thank you. We look forward to continuing the conversation and building on the momentum created in 2025. 🌐 Learn more: www.npcd.org.au 📩 Contact us: info@npcd.org.au #NPC2025 #NiemannPick #RareDisease #ChildhoodDementia #ANPDF #TogetherForNPC #GolfDay2025 Event Gallery Highlights Check out some of our special moments below.

June 18, 2025 – Newark, NJ Rafael Holdings has announced that an independent Data Monitoring Committee (DMC) has completed its scheduled 48-week interim review of the Phase 3 TransportNPC™ trial for Trappsol® Cyclo™ , a treatment candidate for Niemann‑Pick Disease Type C1 (NPC1) , a rare and progressive neurodegenerative disorder [1]. 🎯 Key Takeaways: DMC Verdict : The trial has been approved to continue, with no safety concerns or futility signals identified in the interim data [1]. Safety Profile : Trappsol® Cyclo™, an intravenous formulation of hydroxypropyl‑beta‑cyclodextrin, continues to be well-tolerated, with adverse events consistent with previous Phase 1/2 and extension studies [1]. Next Milestone : The study progresses toward its 52-week endpoint, with topline results expected in mid‑2025  [1]. 🔬 Trial Overview: TransportNPC™ is a randomised, double-blind, placebo-controlled, multi-centre Phase 3 study  enrolling both children and adults with confirmed NPC1. It is designed to assess whether Trappsol® Cyclo™ can slow disease progression and improve patient outcomes [1]. 📊 What This Means: Continued trial progression indicates promising interim performance, reassuring stakeholders and patient communities alike [2]. The study’s advancement supports future regulatory submission for a condition with significant unmet medical need [2]. Context & Broader Momentum Merger strengthened focus : In March 2025, Rafael Holdings completed a strategic merger with Cyclo Therapeutics, acquiring Trappsol® Cyclo™ as its lead clinical asset [3]. Capital raised : A $25 million rights offering closed in early June 2025, securing necessary funding for the trial’s completion and potential commercial preparation [4]. What’s Next? Final 52‑week data  is expected in mid‑2025 , covering both safety and efficacy. Positive results could support future regulatory filings for the first disease-modifying NPC1 therapy. The company’s ongoing momentum may lead to a significant milestone for the rare disease community [2]. 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

At the Australian NPC Disease Foundation (ANPDF) , we know that access to accurate, up-to-date medical guidance can make all the difference for individuals living with Niemann-Pick type C (NP-C) and their families. That’s why we’re excited to introduce a dedicated webpage  for our National Care and Guidelines for NP-C —a groundbreaking project that establishes Australia’s first standard of care for this rare and complex disease. Why These Guidelines Matter NP-C is the fifth most common lysosomal disorder in Australia  and a known cause of childhood dementia . Despite this, awareness of NP-C remains low, and many families struggle to find clinicians who understand the condition. To change this, ANPDF worked with 40 clinicians, allied health professionals, and community members  to develop a comprehensive, Australia-specific standard of care . This process built upon international guidelines while ensuring that recommendations were adapted to our local healthcare system and the real-world experiences of Australian families. What You’ll Find on the New Webpage Our new landing page provides an overview of the guidelines project , highlighting key outcomes such as: ✅ 23 expert-backed consensus statements  defining best-practice care ✅ A diagnostic algorithm  to support earlier identification of NP-C ✅ A multidisciplinary team framework  to improve coordination of care This page will also serve as the gateway to more detailed resources , including the published clinical summary for healthcare professionals  and an easy-to-navigate breakdown of the full guidelines (coming soon!). A Major Step Forward for the NP-C Community For the first time, Australia has a nationally recognised, evidence-based guide  to help clinicians, families, and allied health professionals work together in managing NP-C. "I think it’s great that the foundation is doing something so important like this. It’s progress. Every bit counts! This is an important piece and will help our families."— Community Advisory Board Member By increasing awareness, improving diagnosis, and standardising care, these guidelines will help families receive the support they deserve —from day one. We invite you to visit the new webpage  and explore this important step forward for the Australian NP-C community. Stay tuned as we continue to expand our resources! 🔗 Visit the Guidelines Page

Exciting news for health advocates, professionals, and patients alike—especially our Australian community! Mark your calendars for 29 May, 6–9pm CET  for the 78th World Health Assembly (WHA) . This event isn’t just another date on the calendar—it marks a historic turning point for rare disease patients globally. Note for our Australian audience (AEDT): The event is scheduled in Central European Time (CET). For those in Australia, please be aware that 6–9pm CET translates to 3–6am AEDT on 30 May. We encourage you to plan ahead or check if a recording will be available so you don’t miss out on this transformative discussion. A Historic Breakthrough for Rare Diseases At the heart of this historic moment is #Resolution4Rare . Officially recommended for adoption at the 78th WHA by the 156th WHO Executive Board, this resolution is a milestone for the global rare disease community. It sends a resounding message that the time for change is now—one that promises to: Accelerate Research and Innovation:  By prioritising rare diseases, the resolution aims to unlock new avenues for scientific breakthroughs and better treatments. Enhance Treatment Access:  It strives to ensure that life-changing therapies become more affordable and available for all patients, no matter where they live. Integrate Rare Diseases into Universal Health Coverage (UHC):  A key call to action is to embed rare disease priorities into UHC frameworks, ensuring that every patient receives timely diagnosis and comprehensive care. This is more than policy—it’s a rallying cry that acknowledges the urgent need for a coordinated, global response to the challenges faced by those living with rare diseases, such as Niemann-Pick disease. What is the World Health Assembly (WHA)? The WHA is the supreme decision-making body of the World Health Organisation (WHO), where representatives from 194 member states gather in Geneva each year to deliberate on pressing health issues and set policies that guide global health. The outcomes of these discussions directly influence international health frameworks and shape national policies, including those in Australia. What is a WHA resolution? WHA resolutions aren’t just formal decisions—they are powerful catalysts for change. Here’s what they do: Set Global Health Priorities:  They lay out international frameworks to tackle health challenges head-on. Drive Innovation and Research:  By prioritising critical issues, these resolutions pave the way for medical breakthroughs. Shape National Health Policies:  Countries, including Australia, integrate these directives into their domestic strategies, ensuring that global commitments translate into local action. Insights from the Rare Diseases International Report The recent report presented at the 156th WHO Executive Board meeting reinforces the significance of #Resolution4Rare. It calls for: Integration into UHC:  Ensuring that rare disease patients benefit from a health system that provides timely diagnoses and access to essential treatments. Global Collaboration:  Encouraging international cooperation among governments, health organisations, and patient advocacy groups to share best practices and pool resources. Sustainable Investment in Research:  Highlighting the necessity of long-term investment in rare disease research to drive innovation and improve patient outcomes. These insights add tremendous weight to the resolution’s objectives, marking it as a pivotal step toward transforming healthcare for rare disease communities worldwide. Why the 78th WHA Matters This year’s WHA is more than a gathering—it’s a dynamic platform for discussion, innovation, and transformation. Here’s why you should be excited: A Turning Point in Global Health Policy By championing #Resolution4Rare, the WHA is setting a new global standard for addressing rare diseases. This resolution is not only a policy document but a commitment to ensure that rare disease patients finally receive the attention and care they deserve. Impact on Australia’s Health Landscape Australia’s participation in the WHA means that the groundbreaking decisions taken here will influence local health initiatives. Whether through funding priorities or innovative treatment programs, the ripple effects of this historic resolution will be felt in our national health system. A Beacon of Hope for Rare Disease Communities For individuals diagnosed with rare conditions like Niemann-Pick disease, the adoption of #Resolution4Rare is a clarion call for change. It promises improved research, better treatment access, and comprehensive care strategies that are long overdue. What to Expect Expert Panels & Keynote Speeches:  Listen to global leaders and experts as they discuss the development and impact of WHA resolutions. Interactive Discussions:  Engage directly with speakers, ask questions, and share your perspective on how these global decisions can benefit local communities. Networking Opportunities:  Connect with like-minded advocates, professionals, and policymakers who are passionate about transforming healthcare. Get Involved! This event is your chance to be part of a historic moment in global health. Whether you’re a healthcare professional, a policy enthusiast, or someone directly affected by rare diseases, your voice is essential. Join us in supporting #Resolution4Rare—a resolution that stands as a beacon of hope and a commitment to change. Save the Date: 29 May, 6–9pm CET. For our Australian friends (AEDT), remember that this corresponds to 3–6am AEDT on 30 May . For more details and to register, check out the event update . Together, let’s help shape a healthier future—one resolution, one policy, one life at a time. Join us at the 78th World Health Assembly and be the change you wish to see! 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:

Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals. By Frank W. Pfrieger, PhD Institute of Cellular and Integrative Neurosciences Centre National de la Recherche Scientifique / University of Strasbourg Strasbourg, France Read the full article here: The latest Pfrieger’s Digest covers key research on Niemann-Pick diseases, including 82 publications on NPC and 37 on ASMD. Highlights include studies on biomarkers like neuron-specific enolase and lysosphingolipids, advancements in patient registries, and breakthroughs in animal models. Key findings: MRI biomarkers may improve NPC diagnosis. Newborn screening in Italy suggests NPC incidence is 1 in 137,506 births. Novel treatments, such as dipyridamole, show partial success in improving NPC symptoms in mice. A humanized NPC1 mouse model opens doors to better preclinical research. Patient registries are highlighted as critical for understanding rare diseases. Please feel free to distribute and forward this issue, and to send feedback to: fw-pfrieger@gmx.de or frank.pfrieger@unistra.fr Support research for a cure of Niemann-Pick disease type C in Australia: Donate online   Shop at our online NPC store   Fundraise your way! Check our free resources and inspo online

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