Raised $26,505.00 #NPCgala #raffle Winners: 1ST PRIZE WINNER Anonymous, Ticket Number 1910 (VIC) 2ND PRIZE WINNER M. Morrison, Ticket Number 1861 (VIC) 3RD PRIZE WINNER M. Ruggieri, Ticket Number 1810 (VIC) Thank you to our sponsors! Interested in organising your own raffle or fundraiser? Contact us today for free advice and resources.

Following a very productive Annual General Meeting, we welcome our new and returning committee members! Just one week prior to our major fundraising event in Melbourne, the Australian NPC Disease Foundation (ANPDF) team held our Annual General Meeting virtually via Zoom. After in-depth discussion of future projects for 2023/24 and recommitting to our goals of raising awareness, supporting families, and funding research for better treatments, the following committee team was elected; Executive Committee members: Mandy Whitechurch, President & Founder Pip Johnston, Vice-President Mary Calcagno, Treasurer Deanna Carpino, Board Secretary Andrew Carpino, Public Officer General Committee members: Marian Shoebridge Milva Carpino Ruth Gott Sarah Mercuri Vince Demarte Elisa Calcagno Carly Heath Emily Staska Scientific Advisory Board members: Ya Hui Hung, Chair Ashley Bush Caroline Hastings Felicity Munro Joy Lee Mark Walterfang Pip Johnston Tina Soulis Ellie Van Velsen 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.

20th January 2017 to 5th February 2023 The Australian NPC Community share their hearts and condolences with the Melbourne-based family of six-year-old Will. Barely a month past his 6th birthday, Will gained his angel wings on Sunday due to complications caused by Niemann-Pick disease type C. We are deeply saddened as a community to lose such a young vibrant spirit and share deepest sympathies to his family. #niemannpickC #gonetoosoon #inlovingmemory 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.

"IntraBio Ltd. is pleased to confirm that it has completed recruitment for its Pivotal Trial, Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study (IB1001-301 - NCT05163288)." Read the full article here: 70+ NPC patients were screened across 13 trial sites in Australia, Europe, United Kingdom and United States. The trial was able to be over-enrolled by approximately 130% and the data-read is expected out in June 2023. Multiple Australian patients were recruited and will have their first screening visit this month! 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: 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.

"Azafaros Receives FDA's IND Clearance and Fast Track Designation for Lead Asset AZ-3102" Read the press release from January 5, 2023 here: Read the press release from January 9, 2023 here: Received Investigational New Drug (IND) clearance from the FDA to conduct a clinical Phase 2 trial for its lead asset, AZ-3102, for the treatment of GM2 and Niemann-Pick disease type C (NP-C). Azafaros’s RAINBOW Phase 2 trial is a multinational, double-blind, placebo-controlled, parallel-group trial investigating the safety, tolerability, and pharmacokinetics of a once-daily oral administration of AZ-3102 for 12 weeks in GM2 and NP-C patients between 12 and 20 years of age. Professor Marc C. Patterson is the principal investigator for the U.S. part of the study. 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: 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.

Join the sweet side of holiday cheer with these recipes! Some of our NPC Warriors are able to take a treatment to help delay the onset of symptoms caused by Niemann-Pick type C. However, to manage the digestive side affects caused by this medicine, they maintain a diet that restricts their intake of disaccharides (double sugars) including sucrose, lactose, and maltose. Thanks to new sugar-free brands emerging in Australia, low-disaccharide snacks are becoming more readily available. Yet, if you are looking for some home-made fun, here are some of our favourite sugar-free recipes for Christmas; Festive chocolate truffles (via Noshu) Blueberry Pancakes (via Brit+Co) Choc-dipped tropical fruit (via Women's Weekly Food) Holiday Cut-Out Cookies (via Splenda) Mini Mince Pies (via Splenda) Avocado Chocolate Mousse (via Feel Good Foodie) Christmas Linzer biscuits (via Noshu) Gingerbread Cookies (via Ditch the Carbs) Chocolate peanut butter swirl fudge (via Noshu) Rhubarb and almond muffins (via Delicious) Leave a comment below with your thoughts or any favourite recipes that should have made the list! #sugarfree #SugarFreeBaking #sugarfreediet #sugarfreechristmas #christmasrecipes

A seven-episode series following Aussies with rare genetic conditions, as they search for answers, options and community. This year, one of our NPC families participated in the Diagnosis Day series produced by Melbourne Genomics and Genetic Support Network Victoria. It is a fantastic series demonstrating the journey and patient-perspective of various families with different genetic conditions. Meet six Aussie families, including our NPC Warrior Noah, who live with ultra-rare diseases. This micro-series follows their search for answers, options and community. The first steps from the clinical geneticist’s room can be daunting and lonely. You have received information that will have an indelible mark on the lives of you and your family. Author: Isaac Hockey, Genetic Support Network of Victoria Watch the trailer below: Released weekly, the entire series is now available to watch online. We commend all the brave families who opened their hearts and homes to share their stories, with special thanks to Noah and his family. Raising awareness and increasing clinician understanding is incredibly important. 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: 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

"Second Orphan Drug Designation Supports Azafaros’ Strategy to Develop AZ-3102 as a Disease Modifying Treatment in a Range of Severe Rare Inherited Metabolic Disorders" Read the full article here: Article Link Announced that the US Food and Drug Administration (FDA) has granted Orphan Drug Designation (ODD) for AZ-3102 Based on its mode of action, AZ-3102 has broad applicability in addressing these inherited metabolic disorders. "As we explore the broad potential of AZ-3102 as a promising new treatment option for rare disease patients, we are excited to achieve this further validation from the FDA,” said Stefano Portolano, Chief Executive Officer of Azafaros. “Our orally available azasugar is designed to selectively inhibit two enzymes involved in glycolipid metabolism with the goal of reducing toxic glycolipid accumulation and ameliorate impaired lysosomal function. We appreciate this acknowledgement of our mechanism of action and the urgency to support the rare inherited metabolic disorder patient community with safe and effective therapies.”

"Orphazyme announces withdrawal of European Marketing Authorisation Application for arimoclomol for the treatment of Niemann-Pick disease type C" Read the full article here: Article Link Decision to withdraw the European Marketing Authorisation Application comes ahead of scheduled final vote on the application later this month Orphazyme intends to request Type C Meeting with the U.S. Food and Drug Administration to discuss potential pathway for resubmission of the New Drug Application for arimoclomol for Niemann-Pick disease type C "Considering the Company’s financial position, Orphazyme has now entered in-court restructuring. This is a process designed to assess the basis to secure the activities of the company going forward including a basis for injecting further capital and/or a potential sale of all or some assets in the company. We firmly believe that arimoclomol has the potential to help NPC patients and we are motivated to explore options for a regulatory path forward in both Europe and the US. We remain focused on preparing for the Type C meeting with the FDA. Our core team of employees is committed to facilitating continued access to arimoclomol to NPC patients during this time" - Tara Greene (Sr. Director, US Medical Operations and US Patient Advocacy, Orphazyme US, Inc.)

Raised $5,320.00 #fundraiser #Derrimut247 #MoreThanAGym Thanks to the amazing efforts of Nikolaos Solomos (Derrimut 24:7 Gym), the Australian NPC Disease Foundation was able to hold a stall within the Melbourne Pavillion. Hosted by Legends Promotions, our amazing valunteers sold raffle tickets and merchandise throughout the event. $2,970 was donated from Nikolaos' ticket sales, $1,345 from raffle tickets sold on the night, and the remaining amount was raised through merchandise and generous donations in the crowd. But that's not all! More than fundraising, our real fight begins with raising awareness. Whilst many are familiar with adult dementia, very few Australians are aware that Niemann-Pick disease is one of sevety plus diseases that cause dementia in children. Thanks to the crew at Legends Promotions, we had the opportunity to play the "What is Childhood Dementia?" video before a speech from Andrew Carpino to raise awareness for Niemann-Pick Disease Type C specifically. Photos by Terry Vorg Missed out on the stall? Checkout our charity merch online!

8th December 2013 to 17th September 2022 Today, our hearts go out to the Melbourne-based family of eight-year-old Noah. This NPC angel passed away Saturday morning due to complications caused by NP-C, with his loving mum by his side. "Our little boy passed away peacefully this morning of complications from Neimann Pick Type C disease, an insidious infliction, which he was born with, that has slowly taken so much from him. He fought like a warrior for 8 years. Never cried, never complained. " - Geoff Lindsay Despite over five years of battling many symptoms of Childhood Dementia caused by Niemann-Pick disease, type C - his undeniable spirit and bravery was never dimmed. In a statement, Australian NPC Disease Foundation president, Deanna Carpino, said: "The Australian NPC Disease Foundation extends its deepest sympathy and condolences to Noah's family and loved ones." "Noah's passing will be deeply felt by all those in NPC community," she said. Together with his mum, Noah shared his story to raise awareness and funding for the hope of a cure. Follow the links below. 'Meet Noah Fox' - Awareness video of Noah's story - link here 'Living with childhood dementia - this is noah's story' - article online by sourcekids.com.au - link here #niemannpickC #gonetoosoon #inlovingmemory 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: 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.

It takes a village to raise a child, so they say. But when your village is trapped in another country by circumstance and rising airfare costs, what do you do? Somaya is mother and carer to beautiful Selena, who has suffered more in her short three years than any person should ever have to suffer in a lifetime. Diagnosed with three genetic conditions, the disease causing her suffering and irreversible deterioration is an infantile form of Niemann-Pick disease type C. It is a cruel, fatal disease to have to watch your child suffer through. In the last 6 months, Selena has lost the ability to speak, crawl, eat, move voluntarily and interact with her family. Emergency hospitalisations now occur regularly. She is fed via a nasogastric tube and is completely unable to move at all on her own; one could argue, she has lost all quality of life. Requiring 24-hour intensive nursing, including suction and oxygen therapy, Somaya cares for her daughter every moment of every day with no respite. "...when [Selena] was well and could able to talk she always told to my parents, I love you (ilobo in her accent) and told them come to my place. And today her wish is happened," Somaya said. The emotional, mental, and physical strain that is carried by Somaya is unbelievable, and at times, unbearable – she is rapidly losing her daughter, having to watch her suffer daily and she knows that her daughter’s death is imminent. Working and operating a small business, Selena's father, Ali, is extremely hard-working. Although, he is unable to provide the intensive medical management and care that she needs whilst supporting his family financially. We can all understand that we need our families to help get us through an ordeal. When the ANPDF was first contacted by Somaya in February 2022, our Patient Liaison Pip Johnston was first on the scene. What began as phone calls and emails for support and advice, became more substantial as the family's situation evolved. Thanks to the generous supporters of the Australian NPC Disease Foundation, we were able to help advocate for Somaya's mum's urgent VISA to Australia and offer financial support for the costly airfare. After a three-year battle, Selena has met her grandmother and a struggling Aussie family has been reunited. To help families like Somaya'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.