Without research, effective treatments will never be able to reach the people who need them most. Did you know research for childhood dementias is slowing down globally? Less and less projects have been funded over recent years according to a recent report by the Childhood Dementia Initiative (CDI). CDI is an organisation that has put a major spotlight on children living with dementia. As NP-C disease can have childhood dementia symptoms, our community is one of over 145 diseases that are advocated for by CDI. Their recent report suggests that rare disease research has been somewhat neglected on a global scale when compared to childhood cancers (which are said to cause a similar number of deaths per year in Australia as childhood dementias). In this report they not only found very limited opportunities for children to enrol in clinical trials, but that the rate of global trials for childhood dementias overall had decreased in the last 5 years. Fewer new clinical trials mean less opportunities for new treatments to save or preserve lives. In their report, CDI listed a range of formal recommendations that could help address this major issue. But what can we do as everyday people? As parents, friends or family members? My answer: Keep spreading the word about Niemann Pick disease and childhood dementias. If people don’t know about the condition, then they aren’t likely to want to support us, donate or tell others. Without donations, the ANPDF struggle to raise funds needed to support research in Australia, like Dr Ya Hui Hung’s NP-C research at The Florey in Melbourne. EVERYONE can help raise awareness. It’s unlikely a lot of people you bump into will have heard about NPD. This means the responsibility of sharing information may likely fall on you. So, when we meet someone (such as a new friend, school teacher or GP) who hasn’t heard of NPD and is curious, I believe we should try our best to educate them on what this condition is. Or, you can direct them to our ANPDF website to learn more. Organisations such as the CDI, Rare Voices Australia and the Genetic Support Network of Victoria also build awareness of rare diseases by continuing to advocate for and support rare disease communities. I believe our continued advocacy, education and engagement with decision-makers, health professionals and the public can make a difference. These cumulative efforts will hopefully lead to more awareness and funding which could support the development of better NPD treatments and get us closer to a cure. If everyone tries to do their part, there is hope! And hope is a powerful thing to hold onto. Stay supportive and supported, Ellie

Azafaros announces positive topline Phase 2 study data with nizubaglustat in GM2 gangliosidosis and Niemann-Pick disease type C Read the full statement from Azafaros here: Here is a summary of the article: Positive Phase 2 Results: The RAINBOW study showed that nizubaglustat was safe and well tolerated in patients with GM2 gangliosidosis and Niemann-Pick disease type C. Next Steps: Azafaros plans to start Phase 3 trials in 2025, with data to be presented at the SSIEM Annual Symposium in September 2024. Nizubaglustat: This drug has a unique dual mode of action and is being developed for rare lysosomal storage disorders with neurological involvement. Support and Designations: Nizubaglustat has received various designations from the FDA, EMA, and MHRA, highlighting its potential as a treatment for these rare diseases. For more information, visit the company's website, azafaros.com 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 Check out upcoming events Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

12th February 2000 to 12th July 2024 It is with heavy hearts that we announce the passing of Sebastian Chamberlain, who peacefully left us this morning in his sleep. Diagnosed with Niemann-Pick disease type C (NP-C), Sebastian faced his challenges with remarkable courage and a cheeky spirit. Sebastian, a beloved resident of New Zealand, made significant strides in the fight against NP-C. In 2017, he became the first patient from his home country to participate in the VTS-270 clinical trial, a groundbreaking study aimed at slowing the progression of this rare neurological disease. His involvement in this trial was a beacon of hope for many families affected by NP-C. This year, Sebastian attended the Australian NP-C Conference and the Minds in Motion Charity Cocktail, events that brought together the NP-C community to share knowledge, support, and camaraderie. His presence at these events was a testament to his enduring spirit and commitment to the cause. Sebastian’s love for food and his infectious smile will be fondly remembered by all who knew him. He leaves behind his devoted parents, Dave and Alice, who have been his pillars of strength throughout his journey. As we mourn the loss of Sebastian, we also celebrate his life and the indelible mark he left on the NP-C community. His legacy will continue to inspire and drive the quest for a cure. Rest in peace, dear Sebastian. You will be deeply missed. #niemannpickC #gonetoosoon #inlovingmemory If you have any memories or messages you’d like to share about Sebastian, please feel free to leave them in the comments below. Your support and kind words mean the world to his family during this difficult time. 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.

On June 22, 2024, the Australian NPC Disease Foundation (ANPDF) hosted the Minds in Motion Charity Cocktail in Port Melbourne at The Timber Yard. This event was a spectacular evening dedicated to raising awareness of Niemann-Pick disease (a group of a rare and fatal genetic disorders) and funds for research of a new gene therapy treatment for Niemann-Pick disease type C (NP-C). Of the 440 guests, more than a quarter were attending one of our events for the first time. Event Highlights Hosts and Entertainment: The night was hosted by Col Cameron, with live music from DJ Antony Papalia. Guests enjoyed award-winning short film screenings, engaging VR experiences, and a mesmerizing performance by magician Jay Cristo. Games and Cocktails: Guests explored new ways to contribute to the cause through a special scavenger hunt that highlighted the diagnosis journey, a fun wine ring toss game called ‘Fling the Ring,’ and a special cocktail where $5 from every glass purchased went towards the cause. Live Interviews: Col spoke to local, interstate and international guests throughout the night to share different perspectives surrounding the disease. Guests included Mandy and Deanna from ANPDF, a patient family from Perth, Prof Trevor Kilpatrick and Dr Ya Hui Hung from the The Florey, and Dr Caroline Hastings from Cyclo Therapeutics. Food and Drinks: Attendees were treated to a creative selection of mouth-watering italian-cuisine canapes and premium drinks, including spirits, wine, tapped beer, and cider. Silent Auction and Raffles: The event featured a silent auction and two raffles, with all proceeds going towards funding critical research for NP-C. see Luxury Travel Raffle Results. Memorial Avenue: Central to the event was a series of Cherry Blossom Trees from which photos of those who have lost their lives to this dreadful disease. Some families were in attendance and proud to honour their loved ones in this way. Fundraising Success From an initial target of $36,000, the ANPDF was thrilled and honored to have raised a net amount of $53,487! These funds were raised through sponsorships, donations, ticket sales, silent auction, raffle tickets, cocktail sales, and event game sales. The funds will support local research conducted at The Florey Institute and the new Care and Guidelines project, which aims to improve and standardise treatment in Australian hospitals. Support the Cause Your support can make a significant difference in the lives of those affected by NP-C. Consider making a donation to help fund vital research and provide care for patients and their families. Donate Now Event Gallery Relive the memorable moments from the Minds in Motion Charity Cocktail by visiting our Event Gallery. For just $4.99 you can also download your favourite memory in high-resolution without watermarks. To all those who attended or supported the event online, thank you for your generosity in the fight against Niemann-Pick disease type C. Together, we can make a difference! Feel free to share this post to spread awareness and encourage others to support this important cause. If you have any questions or need more information, don’t hesitate to reach out! Thank you to our incredible event sponsors! Silver Sponsors Bronze Sponsors Ticketing Partners Event Suppliers

The 2024 NPC Conference, hosted by the Australian NPC Disease Foundation (ANPDF), took place at the Florey Institute of Neuroscience and Mental Health in Melbourne from June 20-21, 2024. This event brought together patients, clinicians, and researchers dedicated to combating Niemann-Pick disease type C (NP-C). Key Highlights Keynote Speakers and Panels: The conference featured a keynote address from longtime advocates and NP-C carers, Martin and Michelle Roberts. It was a heart-hitting entree to the two-day event, that reached families and professionals alike. The following panels featured leading experts in the field, including discussions on the latest clinical trials and research advancements. Attendees gained insights from panel discussions covering a range of topics, from innovative treatment approaches to patient care strategies. Research and Clinical Updates: Participants heard about the most recent developments in NP-C research, including updates on gene therapy, novel drug treatments, and other cutting-edge scientific advancements aimed at improving patient outcomes. Networking Opportunities: The conference provided ample opportunities for networking, allowing attendees to connect with peers, share experiences, and foster collaborations. Community Engagement: A significant aspect of the conference was its focus on community. Sessions were dedicated to the perspectives of those living with NP-C, as well as their families and caregivers. This inclusive approach ensured that the voices of those directly affected by the disease were heard and valued. Venue and Logistics: The Florey Institute, renowned for its research into brain and mind disorders, provided a fitting backdrop for this important event. Located in Parkville, Melbourne, the institute’s state-of-the-art facilities supported the conference’s diverse program. Looking Ahead The 2024 NPC Conference was a pivotal event in the fight against NP-C, offering a unique opportunity for the community to come together, share knowledge, and support one another. As we look forward to future conferences, the insights and connections made at this year’s event will undoubtedly drive continued progress in NP-C research and care. Keep an eye out for conference sessions being uploaded to our youtube channel! #NPConf2024 #familyfirst #conference Acknowledgments The ANPDF is grateful to their key partners and sponsors that enabled the attendance of our patients from all over Australia both in-person and virtually. Venue Partner - The Florey Institute of Neuroscience and Mental Health Grant Sponsor - National Disability Conference Initiative Grant funded by the Australian Government Department of Social Services Thank you to the organising committee; Deanna Carpino, Andrew Carpino, Ya Hui Hung, Mandy Whitechurch, Milva Carpino and Mary Calcagno - for their tireless hours that were volunteered for the success of this event. Special mentions to the returning volunteers from The Florey, and host, Felicity Munro. Thank you to all the new and returning speakers who kindly gave their time to delivering their experience and expertise to our Australian audience. Thank you to all involved. Thank you to our incredible event sponsors! Silver Sponsors Bronze Sponsors Event Suppliers

By Robyn Riley (Herald Sun Medical Editor), June 16, 2024. Read the full article here. Imagine a young boy named Noah, only seven years old, living in the vibrant city of Melbourne. His world turned upside down when he was diagnosed with a rare and challenging condition known as Niemann-Pick disease type C, often likened to childhood dementia because of its profound impact on the mind and body. Noah’s journey to diagnosis was a winding road filled with uncertainty. It began with what seemed like pneumonia, but a sharp-eyed emergency room doctor noticed something more concerning—Noah’s spleen was unusually large. This observation kicked off a six-month medical odyssey, a time fraught with anxiety for Noah’s family as they navigated through a maze of tests and consultations. The specter of cancer loomed over them until it was finally ruled out, and the true culprit, NP-C, was revealed. “It was our last appointment before Christmas and our normal clinician was on leave. We were asking how it was all going and honestly, just kind of waiting to be told that it was all a big misunderstanding,” Mrs carpino said. The discovery of Noah’s condition has been a rallying cry for his family and community. They’ve come together, determined to support Noah through the trials of NP-C, advocating for awareness and rallying support to help others who might one day walk a similar path. Noah’s Battle, as it’s become known, is more than a fight against a disease; it’s a testament to the resilience of a family, the dedication of medical professionals, and the power of a community’s love and support. To help families like Noah's around Australia, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online

Raised $9,580.00 #NPCgala #raffle Winners: 1ST PRIZE WINNER K. Leddick, Ticket Number 2W6R-BJK5-PC422 (VIC) 2ND PRIZE WINNER S. Calcagno, Ticket Number 2W6R-BJK5-PC422 (VIC) 3RD PRIZE WINNER A. Mansueto, Ticket Number 2W67-C7GN-0111P (VIC) 4TH PRIZE WINNER J. Hickling, Ticket Number 2W9D-QTJF-L981T (VIC) 5TH PRIZE WINNER T. Piscitelli, Ticket Number 2W71-S8JL-CZ127 (VIC) 6TH PRIZE WINNER A. Djemil, Ticket Number 2WB3-7XD4-ZNN1R (VIC) Thank you to our sponsors! Interested in organising your own raffle or fundraiser? Contact us today for free advice and resources.

Cyclo Therapeutics Achieves Landmark Milestone with Completion of Enrollment of Last Patient in Phase 3 Pivotal TransportNPC™ Trial of Niemann-Pick Type C1 Read the full statement from Cyclo Therapeutics here: Here is a summary of the article: Landmark Milestone: Cyclo Therapeutics has completed enrollment for their Phase 3 TransportNPC™ trial, which is a pivotal study for treating Niemann-Pick Disease Type C1 (NPC1). Study Details: The study enrolled 104 patients globally and includes a substudy for children aged 0-3 years. It aims to evaluate the efficacy of Trappsol® Cyclo™ for systemic and neurological symptoms of NPC1. Interim Analysis: Topline data from a 48-week interim analysis is expected in the first half of 2025. If the data shows significance, the company plans to submit a New Drug Application to the FDA and a Marketing Authorization Application to the EMA. Disease Impact: NPC1 is a rare genetic disease that affects 1 in 100,000 live births, leading to cholesterol accumulation in cells and causing dysfunction in various organs. For more information about the Company’s TransportNPC™ pivotal Phase 3 study, visit www.ClinicalTrials.gov and reference identifier NCT04860960. 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 Check out upcoming events Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

"Call for more research into childhood dementia, a disease that kills almost as many kids as cancer" - By Gladys Serugga and Rebecca Opie (ABC News) Read the full article here. Local SA mum, Renee Staska, shared her heart-breaking story with ABC News last Friday. In the interview, she sheds some light on her experience of her three children when they were diagnosed with Niemann-Pick disease, type C. "You're not just a mum of three kids anymore — you're a mum of three terminally ill children now," Ms Staska said. Every rare diagnosis journey is unique, and we are so proud of Renee for her courage and strength is sharing what is surely one of the most trying times in any parent's life. As mentioned by Professor Christodoulou in the article, we need "improved support for families caring for children with what is really a devastating disorder." To help families like Renee around Australia, 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: Join us at our Annual Charity Gala in Melbourne Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

"How do I tell my kids they won't grow up" - By Rebecca Whitefield-Baker (Adelaide Now), Sunday November 6, 2022. Read the full article here. Sharing your heart-breaking story with the world is never an easy task. With help from the Childhood Dementia Initiative, Renee continues to raise awareness for disease like Niemann-Pick disease type C that cause Childhood Dementia. "Ultimately I want a cure ... somthing that is going to help my kids and other kids - raising awareness is an important part of that," Ms Staska said. In the article, Renee shares how her family discovered the "bombshell diagnosis"of her three children and the emotional rollercoaster that followed. To help families like Renee around Australia, 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: Join us at our Annual Charity Gala in Melbourne Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online

"Smart thinker: Creating community while in search of a cure" - By Elli Jacobs (MiNDFOOD), Sunday March 17, 2022. Read the full article here. The article from MiNDFOOD, titled "In Search of a Cure," tells the heart-wrenching story of Mandy Whitechurch and her two sons, who were diagnosed with Niemann-Pick Type C disease (NPC), a rare and fatal genetic disorder. The narrative unfolds with Whitechurch's journey as she navigates the challenges of her sons' condition, from the initial symptoms and misdiagnoses to the eventual discovery of NPC through the help of neurologist Professor Elsdon Storey and neuropsychiatrist Professor Mark Walterfang. The article highlights the lack of a cure for NPC and the limited relief available through the FDA-approved drug miglustat, which only stabilizes certain symptoms. Despite the grim prognosis and a 10-year life expectancy for her sons, Whitechurch refuses to give up hope. She channels her despair into action by founding the Australian NPC Disease Foundation to support affected families and fund research. “The doctors handed me a 10-year life expectancy for both my sons and told me to go home and make memories, which left me feeling distraught,” says Whitechurch. “I decided I wasn’t going to take the diagnosis sitting down. I wanted to fight for my boys’ lives, to give them extra time with me, to give them hope.” Her efforts lead to significant advancements, including the introduction of a promising treatment trial in Melbourne hospitals with a spinal infusion drug called VTS-270, which showed improvement in cognitive and motor symptoms in other countries. Whitechurch's story is one of resilience and determination, as she fights for her sons' lives and works tirelessly to create a community of support and hope for those affected by NPC. To help families like Mandy's around Australia, 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: Join us at our Annual Charity Gala in Melbourne Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online

Many of you may know Tony Tardio as the newsreader on Melbourne’s radio station 3AW, however he also has another hat as a presenter of a radio program highlighting stories about the Italian community in English on the Italian radio network “Rete Italia.” Thanks to a connection via our Treasurer, Tony kindly invited Deanna on to his program to discuss her experience with Niemann-Pick disease as well as her role within the foundation. The following is a recording of the interview that took place on the 24th June 2024. Click on the icon below to listen to the recording or visit the website here: Podcast - Tony Tardio — Il Globo To help families like Deanna's around Australia, 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: Join us at Minds in Motion in Melbourne Buy a ticket to our Luxury Travel Raffle Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online