Search Results

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.

Check out our new projects page where you can read more about our latest projects that need some good ol'fashioned volunteer power. We have projects and positions that can be completed remotely or in person, by skilled volunteers or someone with great enthusiasm looking to learn! Don't be scared, we got you ;) Got skills but can't find the project? Let us know! Send an email to info@npcd.org.au with your ideas and someone will be in contact with you.

Our hearts go out to a Sydney based family whose little boy had "defied predictions" about his life expectancy only to become the youngest person in NSW to die after contracting COVID-19. Three-year-old Sebastian Moroney was born with Niemann-Pick disease type A which typically manifests in people when they are infants. Its carriers do not often live beyond a few years. #niemannpickA #gonetoosoon #inlovingmemory Read full article here: https://www.abc.net.au/news/2022-01-09/sydney-3yo-dies-after-contracting-covid-19/100745596

Pfrieger's Digest for Niemann-Pick type C: Summaries of research advances 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: Covers the period from May 2022 to September 2022 Now includes publications related to Niemann-Pick type A-B called Acid Sphingomyelinase Deficiency or ASMD. Please feel free to distribute and forward this issue, and to send feedback to: fw-pfrieger@gmx.de or frank.pfrieger@unistra.fr

Raised $2,612.50 #glenarthon #fundraiser #auction A charity live auction dedicated to two different charities.

Raised $12,521.35 An amazing raffle organised by local business to our NPC Warrior, Tommy. Selling out 500 tickets in a record 10 days, we can't thank the amazing Lyn and Mat from Riverina Saddlery enough for their support. Another huge thank you to all those who participated and to those who donated once tickets were sold out. Wow! Just wow! 400 tickets sold in the first three days! And it couldn't have come at a better time. When we texted Pip with an update of how many tickets had been sold over the weekend, her response was, "Being airlifted to Bris this morning. Tommy is having severe seizures." As we waited to hear news, the ticket numbers kept ticking over. Long-term customers, new customers, people getting friends and relatives to buy tickets for them from out of state (and England and the US!), people who we know don't even own a horse! #NPCaustralia #npcraffle #1000th #australianmade #riverinasaddlery #mathewmurray Winners 1ST PRIZE WINNER Ticket Number: #13 From Yackandandah, VIC 2ND PRIZE WINNER Ticket Number: #492 From Alpha, QLD Sponsors and Contributors Interested in organising your own raffle or fundraiser? Contact us today for free advice and resources.

Mark your calendars, roll up your sleeves, and get ready for the NPD Awareness Month! Parents and carers of people suffering from a form of Niemann-Pick disease have had enough. We are watching our children slowly lose their ability to play, learn, walk, eat... and live. Help us raise awareness of the incurable and neurologically degenerative conditions, Niemann-Pick type C (NPC) and Acid sphingomyelinase deficiency (ASMD). In Australia, all known patients affiliated with our organisation have NPC, which is why we say... FU to NPC. All funds donated or raised will be contributed towards supporting families and research conducted at The Florey Institute of Neuroscience and Mental Health. #NPDawareness #CureNPC #NiemannPickOz Join us as we say FU🎗NPC! Follow us on our social media channels to like and share the awareness posts Print a downloadable poster below for your local shop or workplace Donate online to help us fund ground-breaking research or financially supporting families left in the NDIS gap Nominate the ANPDF in your own fundraiser Join us at our Annual Charity Gala in Melbourne Images and Social Posts Below images are available to download or edit online via Canva. #NPDawareness #CureNPC Flyers and Posters Download these print-ready posters for your local business or fundraisers: A3 Posters with crop and bleed marks for professional printing in CMYK (PDF) A4 Flyers ready to print on your local printer (PDF) Annual Charity Gala Join the ANPDF at our exclusive Charity Gala on Saturday 25 February 2023 at the Flemington Racecourse. Help us raise funds to continue research conducted in Melbourne for a cure of childhood dementia caused by Niemann-Pick disease type C. Guests will be treated to fine dining with a three course meal, flowing drinks, unforgettable live entertainment, stunning city views, great prizes, an array of high-quality items and experiences to bid on, and... Dancing! We are also excited to welcome veteran Aussie comedian, Col Cameron, as our 2023 Charity Gala Master of Ceremonies. With over 20 years of performing behind him in a variety of roles including comedian, master of ceremonies, musician as well as writer and producer, weknow that he will bring a unique and genuine feel to the event. Don't miss out on your prefered seating and register now!