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This is the first of (hopefully!) many blog posts to come. Who am I? My name is Ellie. I have two cousins who were diagnosed with Niemann-Pick Type C Disease (NP-C) as teenagers. I have worked as a carer for people with NP-C and am on the Science Advisory Board for the Australian Niemann-Pick Type C Disease Foundation (ANPDF). I am a student finishing off my Masters degree in Genomics and Health. My studies include a range of topics including rare genetic conditions, types of genetic testing, and screening measures. My passion is learning more about people and what makes us who we are. I hope that in my future career, I can make science topics interesting and easy to understand for everyone! Why a blog? The motivation behind starting this blog was to help talk about ideas, considerations, and approaches to coping with NP-C as an individual, family, and community. I will be including scientific research and concepts in my posts, so everything that I say (unless otherwise stated) is backed up with evidence. I would love for people to engage with these posts – so any feedback is welcome. My question to you I need your help in discovering what topics need a voice. What do you want me to talk about or see on this blog? ANPDF is about the whole of the NP-C community – researchers, families, clinicians, and more. I want to do my best to write blogs that appeal to the needs and/or interests of the readers. Want to know some special tips for NDIS funding? Ideas for wheelchair-friendly activities in Melbourne? How to take care of yourself whilst you take care of others? Let me know! Stay supportive and supported, Ellie

Read the letter from Mandos Health here: Here is a summary of the article: INPDA 2023 Meeting : Mandos attended the 2023 INPDA meeting in Tarragona, Spain, highlighting progress in the NPC community and supporting adrabetadex (VTS-270) research . Upcoming Conferences : Mandos will sponsor the 2024 Parseghian Fund Annual Conference and the NNPDF Family Support & Medical Conference . Research and Development : the FDA has accepted Mandos' request for a Type C Meeting scheduled in October to discuss the direction of the adrabetadex program’s development. Expanded Access Program: the EAP age criteria have been expanded to include patients from 3 months to 25 years old 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 .

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: These summaries provide a glimpse into the diverse research efforts aimed at understanding and addressing NPCD and ASMD, shedding light on biomarkers, genetic modifiers, diagnosis, treatment approaches, and potential therapeutic targets. 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

We are thrilled to announce the results of our recent fundraiser for Kando Martial Arts! Thanks to the incredible support from our community, we have raised a total of $1,603 to support ANPDF projects like the National Care and Guidelines. Thank you to everyone who participated and contributed to the success of our fundraiser. Your generosity will help us continue to provide quality martial arts training and programs for our members. Let's keep up the great work and continue to support our Niemann-Pick community! Special Thanks to our Venue Partner, Kando Martials Arts Rowville and to all our event sponsors and contributor: McKays Family Butchers STUD PARK, Danika William-Diaz, Frisco the Label, Coles Rowville, Woolworths Rowville, Bakers Delight Rowville.

**New raffle prizes added! Are you ready to enhance your self-defence skills and boost your confidence? Look no further because Shihan Paul's Self-Defence class is here to empower you! Teaming up with ANPDF-volunteer, Ellie Van Velsen, this dynamic duo is ready to guide you through an exhilarating journey of self-discovery and protection. Self-defence is not just about physical techniques; it's about equipping yourself with the mindset and skills needed to navigate challenging situations confidently. Shihan Paul, a seasoned expert in martial arts, brings a wealth of knowledge and experience to every class. His enthusiasm is contagious, making each session not only educational but also incredibly fun! Meet Your Instructors: Paul: With years of experience in various martial arts disciplines, Paul is dedicated to sharing his expertise with individuals looking to build their self-defence skills. His passion for teaching is evident in his enthusiastic approach, creating a supportive environment for students to thrive. Ellie: As an ANPDF-volunteer, Ellie brings a unique perspective to the self-defence classes. Her commitment to empowering individuals and promoting safety is truly inspiring. Ellie's presence adds a valuable dimension to the classes, ensuring that participants receive a well-rounded and comprehensive training experience. What to Expect: 1.5hr Self-Defence Class: Learn effective self-defence techniques that are easy to remember and can be applied in real-life scenarios. ANPDF Kiosk: Selling Sausages in Bread ($3.50), Cold and Hot Drinks ($2.50), and more. Limited Raffle: Pre-purchase your raffle tickets at the event checkout! Each raffle ticket is just $5 to go in the draw to win one of six awesome prizes with a total prize pool over $1500! Raffle prizes - Tickets are $5 each First Prize: Frisco the Label Family Pack valued at $700rrp. Second Prize: Clock Artwork valued at $490rrp. Third prize: Handmade Resin Cheeseboard Set valued at $130rrp. Fourth prize: $100 KMA Gift Voucher. Fifth prize: $100 KMA Gift Voucher. Sixth prize: Lindt chocolate box valued at $26rrp. Event Schedule: Day: Saturday, 24th August 2024 Time: Stalls open at 11am until 4:30pm, Class starts at 2:00pm Location: Shop 5, Stud Park Shopping Centre, Rowville Frequently Asked Questions I'm not very sporty or coordinated, will that be a problem? Not at all. In fact, many students starting in our adult martial arts classes would describe themselves like that before they started. So, you will fit right in! You’ll find that our very experienced martial arts Instructor Shihan Paul, is trained to keep his teaching simple. So even the most uncoordinated person will develop their self-defence skills! Come see for yourself! What should I wear and bring? Make sure you wear comfortable clothes you can do sport in! Not really suitable to practice kicks in a skirt.😳 Be sure to bring a water bottle to the self-defence class, or you can buy water from our kiosk. Where should I park? Kando Martial Arts is located in shop 5 of the Stud Park Shopping Centre, so there should be plenty of parking in the parking lot. Is the location and class wheelchair accessible? Yes! Kando Martial Arts Rowville is a wheelchair accessible venue and has a wheelchair accessible parking lot. Due to the requirements of the matting during the Self-Defence Class, we are limited to five (5) wheelchair-abled attendees. Please select the wheelchair accessible ticket at checkout to ensure we are able to accommodate all attendees. Join Us Today! Whether you're a complete beginner or have some experience in self-defence, Shihan Paul's class offers something for everyone. Come and discover the warrior within you under the guidance of seasoned instructors who are passionate about your safety and well-being. Don't miss out on this incredible opportunity to transform yourself mentally and physically. Join us at Shihan Paul's Self-Defence class and embark on a journey of empowerment and self-discovery! Remember, your safety is your superpower. Let's unlock it together with Shihan Paul and Ellie Van Velsen! By embracing self-defence techniques, you're not just learning to protect yourself physically; you're also cultivating mental resilience and confidence. Take the first step towards empowerment today!

FDA Advisory Committee Votes Favourably that the Data Support Arimoclomol as Effective Treatment for Patients with Niemann-Pick Disease Type C Read the letter from Zevra Therapeutics here: Here is a summary of the article: FDA Advisory Committee Vote: The U.S. FDA Genetic Metabolic Diseases Advisory Committee (GeMDAC) voted favourably (11 yes, 5 no) that Arimoclomol is effective in treating patients with NPC. Clinical Data Support: The committee considered clinical data from pivotal trials, long-term open-label extension studies, and expanded access programs. About NPC: NPC is an ultra-rare, progressive, neurodegenerative lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Arimoclomol: Zevra’s investigational drug candidate for NPC has received Orphan Drug designation and other regulatory designations (2). The FDA has set a Prescription Drug User Fee Act (PDUFA) action date of September 21, 2024 (3,4). 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.

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