On Friday, October 3, 2025, the greens of Mt Derrimut Golf & Community Club came alive for our first-ever Charity Golf Day. What an extraordinary day it was – filled with perfect spring weather, wonderful company, and spirited competition, all united by a single, heartfelt purpose: to support families affected by Niemann-Pick Diseases. Players joyfully gather for a group photo at the charity golf event, a day filled with goodwill on the course. We extend our deepest gratitude to our Major Sponsor, Reece Civil , whose generous support was instrumental in making this event a resounding success. Held during Niemann-Pick Awareness Month, the day transcended golf, becoming a powerful platform for connection, compassion, and community. Over 70 people came together, and proudly raised an incredible $31,393, with $22,583 directly benefiting the Australian NPC Disease Foundation. These vital funds will empower families, fuel advocacy, advance research, and amplify awareness across Australia. A Day of Heart, Awareness and Fun Organised by Deanna Carpino, whose son Noah lives with Niemann-Pick Type C, the event was a testament to their dedication. Noah's dad, Andrew, along with his aunties, Sarah and Elisa, were among the many devoted volunteers who ensured the day ran seamlessly. They were joined by Jean-Luc Corelli and our fantastic MC, Rob McKay. Our heartfelt thanks to all the event volunteers — Your tireless hard work, unwavering enthusiasm, and dedication made every detail shine and truly brought this event to life. It was a day that beautifully blended laughter with learning – offering a chance to enjoy the game while opening eyes to the realities of childhood dementia, a term often used to describe Niemann-Pick Type C. Golf with a Purpose: The Awareness Challenges To deepen the event's impact, three unique awareness challenges offered golfers a small, experiential glimpse into what life with NP-C can feel like. 🏌️‍♂️ The “Blurry Putter” Challenge – Putting with Frosted Glasses This challenge simulated one of NP-C’s hallmark symptoms — difficulty with vision and coordination. Golfers tried their best to line up a shot through frosted lenses, gaining a glimpse of the disorientation many with NP-C experience daily. Winner of the "Blurry Legend" Award 🧤 The “Clumsy Clutch” Challenge – Golfing with Oversized Gloves A hands-on way to represent dystonia and ataxia — muscle control and coordination issues that make even simple tasks difficult. Players quickly learned that control and grip aren’t things to take for granted. 🏆 Award: Best “Clutch Moment” ⏱️ The “Delayed Driver” Challenge – Following Instructions After a 10-Second Delay This challenge mimicked slowed thinking and cognitive delays, offering insight into how memory and processing difficulties affect those with NP-C. We asked each player to take one step back, spin once, jump over the ball and wait 10 seconds before teeing off. Each challenge sparked laughter, fostered learning, and ignited important conversations, transforming a day on the course into a truly meaningful awareness experience. We proudly awarded the 🏆 Challenge Champion for embracing every wobbly, blurry, and wonderfully ridiculous moment. A huge thank you to all who participated! Winner of the "Challenge Champion" Award Event Highlights 🎤 Rob McKay  from BRS Results  was outstanding as our MC , bringing warmth, humour, and energy to every part of the day — while also generously supporting as a hole sponsor . 📸 Relive the moments! A highlight video  and photo gallery  are now live at www.npcd.org.au/golfday . Short highlight reels (<60 seconds) will also feature across our socials throughout Awareness Month , so keep an eye out for them and share to help spread the message. Raffles, Auctions & Generosity on Display The 2025 Charity Golf Day Raffle was hand drawn by our special guests from The Florey. Beyond the fairways, the support continued with our raffle  and silent auction , which together added a fantastic boost to our fundraising efforts. 🎟️ Raffle total:  $2,920 | 🎁 Silent auction total:  $1,990 Congratulations again to all our raffle and silent auction winners! We’re so grateful to the generous businesses who made these prizes possible: Silent Auction Donors: Mt Derrimut Golf & Community Club Benzina Stables Ceramic X Detailing Raffle Donors: Frisco the Label Greenspace Management Naomi Kruizinga Sponsor Acknowledgements 🏆 Major Sponsor:   Reece Civil Your belief in our mission and generous support was instrumental in making this event a success. 💛 Birdie and Hole Sponsors: A huge thank-you to every business and individual who joined as a Birdie or Hole Sponsor — your support helped turn a simple day of golf into something so much bigger: a day of awareness, connection, and hope. Birdie Sponsors: M1 Traffic and Labour Metro Utility InLife Di Martino & Lagana Pty Ltd Goat Club Razor International AusRoads Traffic OzDare Hole Sponsors: Shanx Mini Golf Bizarre Real Estate BRS Results 🖨️ Printing Sponsor and Community Partner:   Enviro Print Group — Thank you for donating all printing materials for the event. Thank You Every swing, raffle ticket, and conversation on the course helped shine a light on Niemann-Pick Disease  — a rare and devastating condition that affects both children and adults, including our own Noah . To learn more about Niemann-Pick Disease or to support our ongoing work, visit www.npcd.org.au . Together, we are driving awareness , accelerating research , and fostering hope – one event, one family, and one fairway at a time. Photography by Australian Cinematography.

Niemann-Pick Disease Type C (NPC) is a devastating and ultra-rare condition, often described as a form of childhood dementia. With no cure currently available, families face the heartbreaking reality of watching their loved ones lose skills and independence over time. Here in Australia, world-class researchers are working to change that story. One promising initiative is DL33, a potential small molecule therapy being advanced by Meizon Innovations. Where DL33 Stands Today Professor Wah Chin Boon at the 2025 Australian Niemann Pick Conference. At the 2025 Australian Niemann-Pick Conference, Associate Professor Wah Chin Boon shared exciting progress on DL33. Since then, the program has achieved two major milestones: ✅ Successful GMP-grade large-scale manufacturing with >99% purity — a critical step before moving into safety studies. ✅ Funding secured to initiate animal toxicology studies.   Toxicology testing is set to begin in Q3 2025, with the goal of raising USD $4M to launch a Phase 1 clinical trial in early 2026. Each of these steps brings DL33 closer to the first trials in patients. What this research means (Left to Right) Ass. Prof. Wah Chin Boon (Meizon), Mandy Whitechurch (President at ANPDF), Liz Ferentinos (Meizon, CEO). For families affected by NPC, even incremental progress offers profound hope. “Bringing the fight to Niemann-Pick, we are changing their tomorrow!” – Associate Professor Wah Chin Boon Experts agree that combination therapies will be essential to treating NPC. DL33 represents one of several innovative approaches being developed to slow or alter the course of this devastating disease. These milestones bring the project closer to the first trials in patients. Learn More & Get Involved You can find out more about DL33 and Meizon’s work here: 🌐 Meizon homepage 🎧 Listen to the Meizon podcast 🎥 Watch the video update A Shared Effort for Awareness Month This Niemann-Pick Awareness Month , ANPDF is proud to share updates on Australian-based research. These efforts reflect Australia’s role in advancing global NPC science — and in bringing treatments closer to families right here at home. Adelaide mum with her two (of three) children, all diagnosed with Niemann-Pick disease type C. 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 DL33 DL33 is a novel small molecule therapy in development by Meizon Innovations. It is designed to target the underlying biological mechanisms of NPC and represents a step toward potential disease-modifying treatment. About Meizon Innovations Meizon Innovations is an Australian biotechnology company dedicated to developing new therapies for rare diseases. Its lead program, DL33, is focused on Niemann-Pick Disease Type C. Learn more at   https://meizon.health/ 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 .

On 1 October 2025, Sanofi announced that Xenpozyme® (olipudase alfa)  has been listed on the Life Saving Drugs Program (LSDP)  for patients with Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick Disease Type A/B and Type B . This is a significant milestone for the ASMD community in Australia, providing access to the first disease-specific therapy for those living with Niemann-Pick A/B and B. We send our congratulations to the families, advocates, and clinical teams who have worked tirelessly to achieve this outcome. It is important to clarify that this listing does not include Niemann-Pick Disease Type C (NPC) . At the Australian NPC Disease Foundation, we continue to advocate for access to effective treatments for NPC, including Arimoclomol and Miglustat, and to ensure our community’s needs remain visible in national policy discussions. If you have any questions about what this means for NPC, please reach out to us at info@npcd.org.au . ANPDF will continue to share updates as more information becomes available. References & Further Information Australian Government, Department of Health and Aged Care: Life Saving Drugs Program – ASMD resources Sanofi Xenpozyme (olipudase alfa) information: XENPOZYME® (olipudase alfa-rpcp) for ASMD treatment (non-CNS manifestations) Sanofi Australia: www.sanofi.com.au Rare Voices Australia: Updates on rare disease policy and treatment access What is the LSDP? The Life Saving Drugs Program (LSDP)  is an Australian Government program that provides free access to high-cost, life-saving medicines  for people with very rare and life-threatening conditions. Because the number of patients is so small, these medicines are often not subsidised on the PBS  (Pharmaceutical Benefits Scheme) as they don’t meet the usual cost-effectiveness criteria. Instead, the LSDP exists to make sure patients can still access them if: The disease is life-threatening, severely disabling, or both The medicine has been proven safe and effective There are no other suitable treatment options The cost is too high for individuals to afford Each condition and medicine is individually assessed, and if accepted, the government covers the full cost so patients don’t pay. For ASMD (Niemann-Pick A/B and B), Xenpozyme®  has just been added to the LSDP. 👉 For official details, the Department of Health and Aged Care has a page here: Life Saving Drugs Program – ASMD resources .

Frank W. Pfrieger, PhD 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 (+22 from prev) publications on NPC and 37 (+7 from prev) on ASMD. Highlights include: 🧠 New Clues for the Brain Neuron-Specific Enolase (NSE) : A new biomarker may help track NPC progression more accurately. MRI Breakthroughs : Brain scans are showing promise for earlier diagnosis and monitoring. 👶 Early Detection Newborn Screening Data : Italian researchers estimate NPC may affect 1 in 137,506 births—helping refine global awareness. 🐭 Better Models, Better Hope Humanized NPC1 Mouse : A new mouse model mimics human NPC more closely, improving drug testing and research accuracy. 💊 Treatment Buzz Dipyridamole : This repurposed drug showed partial success in mice—offering a new angle for symptom relief. Gene Therapy & mRNA : Scientists are diving deeper into these cutting-edge approaches, with potential long-term benefits. 📋 Registries Matter Patient registries are getting more attention—they’re key to understanding the disease and guiding future trials. 💬 Final Thought Every study adds a piece to the puzzle. While there’s no cure yet, the pace of discovery is accelerating. Stay connected, stay hopeful, and know that the global research community is working hard for you. 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

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