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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 .

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.