One day during my volunteer training course, I met a woman. What she said made such an impact on me, that I still remember it years later. She spoke about her adult son’s experience as someone who was non-verbal and used a wheelchair. She said that some people would walk into a room, see her son’s wheelchair, and then act like he was a part of the furniture – ignoring him entirely. It seemed that when people saw he had a disability they somehow dismissed him as a person to interact with. She said that practically no one would say hello, or even look him in the eye. This made her son feel horrible like his disability was all others could see. How dehumanising would that feel? …I have a confession. When I was younger, I would feel uncomfortable around people who showed signs of having a disability. If how they spoke or looked was different or new – I didn’t know what to do. And what do people tend to do when they don’t understand something? Avoid. Yes, regrettably I would probably have been one of those people who would have avoided eye contact with her son. Hearing this woman’s story shone a spotlight on this issue, and drastically changed my perspective. Ever since, I have made sure to acknowledge people and say hello no matter what level of ability they appear to have, and am so happy to say that I’ve received a lot of smiles and happy responses! Since this training day, throughout my time as a support worker and in my current life, I have been a strong advocate for people living with disabilities being treated as equals. And yet, we don’t often talk about them as people. The People with a Disability Australia’s Language Guide describes how common terms such as ‘retarded’, ‘handicapped’, or ‘special needs’ should not be used to talk about a person with a disability. Sadly, I’ve heard all these terms in various conversations with people. The public often uses identity-first language to describe someone with a disability (i.e. disabled person). This limits a person to be thought of only within the context of their disability. That’s basically saying that their disability is the most important part of them. But there is so much more to a person than their physical or mental abilities. People living with a condition like NPD have hobbies and interests such as music, painting, and going for nature walks – just like everyone else! So, the ANPDF prefers to use person-first language (i.e. person living with Niemann-Pick Disease) because we believe a person should not be defined by their condition. “Know me for my abilities, not my disability.” – Robert M. Hensel I invite you to look at the guide (linked above) and see how some of the language you, me, and even the general public have accidentally used in the past when referring to someone with a disability. Abled or disabled? Does it matter? People are people. People are people, and no one wants to feel reduced to less than what or who they are. Everyone deserves the right to be heard, seen, and included. Please feel free to share this post to raise awareness of this important reminder. Stay supportive and supported, Ellie

The New England Journal of Medicine has published a "Science behind the study" editorial on IB1001 Read the full announcement from IntraBio here: We are pleased to share that The New England Journal of Medicine (NEJM) has published a "Science Behind the Study” Expert Perspective Editorial on N-acetyl-L-leucine (IB1001) for the treatment of neurodegenerative diseases: https://www.nejm.org/doi/full/10.1056/NEJMe231379 The Editorial reports the broad potential of IB1001 as a treatment of neurodegenerative diseases and recognises the applicability of IB1001 for the treatment of various neurodegenerative disorders, including all neurodegenerative lysosomal storage diseases, heritable cerebellar ataxias, and common disorders like traumatic brain injury. 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.

25th May 1978 to 4th February 2024 We are deeply saddened to announce the passing of Mala Singh, a beloved member of our community, who lost her battle with Niemann-Pick disease type C (NPC) at 5am this morning. She was 45 years old. Mala was a remarkable woman who touched many lives with her kindness, generosity, and courage. She was a devoted sister, and friend who always had a smile and a word of encouragement for everyone. She was also a passionate advocate for NPC awareness and research, sharing her story and raising funds by donating her beautiful handmade quilts. NPC is a rare and fatal genetic disorder that affects the metabolism of cholesterol and other lipids in the body. It causes progressive damage to the brain, liver, spleen, and lungs, leading to various symptoms such as cognitive impairment, seizures, difficulty swallowing, and loss of mobility. There is currently no cure for NPC, and the average life expectancy is around 10 years after diagnosis. Mala will be greatly missed by all who knew her. We hope that her legacy will live on through her words and deeds and that one day we will find a cure for this devastating disease. Rest in peace, Mala. You are forever in our hearts. #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.

New Drug Application for IB1001 for the treatment of NP-C disease was submitted to the US FDA in January 2024 Read the full statement from IntraBio here: IntraBio Inc. is pleased to share that the New Drug Application (NDA) for N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease type C (NPC) was submitted to the US Food and Drug Administration (FDA) in January 2024. 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.

Zevra Therapeutics Receives FDA Acceptance Of Resubmission Of NDA For Arimoclomol As A Treatment For Niemann-Pick Disease Type C Read the full statement from Zevra Therapeutics here: Here is a summary of the article: Zevra Therapeutics Resubmits NDA for Arimoclomol: The company announced that the FDA has accepted the resubmission of the NDA for arimoclomol, a potential treatment for Niemann-Pick disease type C. PDUFA Action Date and Advisory Committee: The FDA has assigned a PDUFA action date of June 21, 2024, and intends to present the resubmission for discussion in an advisory committee. 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.

“Will I be a lab rat?” …. “Is it safe?” When facing an NP-C clinical trial for the first time, these questions are understandable. Movies and shows can give the impression that scientists are people in white lab coats running risky experiments without care of consequence. You may have also seen stories in the news that showcase the rare event of serious complications occurring in research. Today, I want to give you a more realistic picture of what research is like. As you may already know, I am a scientist. Throughout my studies and via personal experience, I’ve become quite familiar with research. Even though I don’t wear a lab coat (sadly because they feel so cool!), I hope I can share some truths about this space. It is a big topic, but I’ll do my best to tell you the key bits! The reality of research Research is a major part of science, and without it, we wouldn’t have some of the amazing medical advancements we do today. Research has helped us work toward treating terminal cancers, extending the average lifespan of people, and diagnosing children with rare conditions like NP-C so they can access treatments earlier. In the Niemann-Pick Disease (NPD) community, we rely on research to bring forward new possible treatments and therapies that can help to manage these diseases. But I understand that if you’ve never been involved in research before, it can seem a little scary. So, how does it all work? Scientific research is not done simply because someone wants to do it. There are certain hoops researchers need to jump through to get their intervention (this could be a new drug, a specific therapy, or something else they want to try) to the clinical trial stage. Lots of evidence needs to be collected (usually costing millions of dollars and years of work) to demonstrate that the intervention significantly helps people and to justify why it should be used in human trials. According to Harvard Business School, for every 5,000 drugs designed in a lab, only 5 are tested with people and only 1 will make it to the market. Two of the many reasons why drugs may not get to the trial stage are that they do not meet the strict global research guidelines, or they are not safe enough for people to use. As NPD is a rare condition, there are certain ways to fast-track these processes to shorten the time-to-market for treatments. But there are still extensive follow-ups and strict requirements to make sure it is generally safe for people. Human ethics boards, like the Australian Human Research Ethics Committee (HREC), ultimately decide if a research project can go ahead or not. They scrutinise the project plan and the intervention to make sure it meets a range of set criteria that are intended to maximise the safety of people and their data. So, you can argue that participants (people who voluntarily participate in the study) are considered the most important people in the room. Without participant help, the research could simply not be done. Medications will generally affect people in different ways because we are all different people. So, there is always the possibility of positively or negatively reacting to a new drug. But even though treatments may have side effects, so do most common medications. You can easily react to a new sunscreen or feel unpleasant from an over-the-counter painkiller. To address the chance of side effects, clinical trial researchers closely monitor participant health so that they can do their best to ensure participants are not significantly harmed. So, are clinical trials “safe?” The benefit of the drug is likely to outweigh the risk, otherwise, the drug would not be in the human trial stage at all. Risk will always be there, however, in clinical trials, it’s closely controlled and monitored. I hope this blog post helps you understand more about clinical trials. Keep an eye out on our website for more information coming soon! Stay supportive and supported, Ellie

Zevra Therapeutics Announces Resubmission Of Arimoclomol New Drug Application To The U.S. Food And Drug Administration Read the full statement from Zevra Therapeutics here: Here is a summary of the article: Zevra Therapeutics Resubmits NDA for Arimoclomol: Zevra is a rare disease therapeutics company that has developed arimoclomol, an investigational drug for the treatment of Niemann-Pick disease type C (NPC), a genetic and fatal neurological disorder. Arimoclomol Addresses Lysosomal Dysfunction in NPC: Arimoclomol is designed to improve the function of lysosomes, which are cellular compartments that transport and metabolize lipids. Zevra Expects FDA Review within Six Months: Zevra resubmitted its NDA for arimoclomol on December 22, 2023 , after receiving a complete response letter from the FDA in June 2023. Zevra Prepares for Commercial Launch of Arimoclomol: Zevra is accelerating its launch preparations in anticipation of FDA approval and aims to bring arimoclomol to the NPC community as soon as possible. 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.

Azafaros’ Phase 2 RAINBOW study, evaluating nizubaglustat in GM2 and NPC patients, is now fully enrolled Read the full statement from Azafaros here: Here is a summary of the article: Azafaros’ RAINBOW study: A Phase 2 clinical trial evaluating nizubaglustat, a potential treatment for rare lysosomal storage disorders with neurological involvement, such as GM1 and GM2 gangliosidoses, and Niemann-Pick disease type C (NPC)1. Trial enrollment: The study exceeded the target number of patients, recruiting participants with GM2 gangliosidosis and NPC from Brazil. The study is randomized, double-blind, placebo-controlled, and multi-center. Trial objectives: The study aims to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of two doses of nizubaglustat over 12 weeks2. The results will support two Phase 3 pivotal trials in GM1 and GM2 gangliosidoses, and NPC. Trial significance: The study is an important step towards developing a new therapeutic solution for these rare and severe diseases, where patients have no or limited treatment options. Nizubaglustat has received multiple regulatory designations and incentives from the FDA, EMA, and MHRA. 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.

Cyclo Therapeutics Announces Positive Outcome from Type C Meeting with the U.S. FDA Discussing Trappsol® Cyclo™ Clinical Program for the Treatment of Niemann-Pick Disease Type C1 Read the full statement from Cyclo Therapeutics here: Here is a summary of the article: Cyclo Therapeutics announces positive outcome from Type C meeting with FDA: The company discussed its clinical development program for Trappsol ® Cyclo™, a potential treatment for Niemann-Pick Disease Type C (NPC), a rare and fatal genetic disease1. FDA agrees to change the timing of the interim analysis for the Phase 3 study: The company will conduct a comparative interim analysis after 48 weeks of treatment, instead of 96 weeks, based on suggestive evidence of therapeutic benefit and significant unmet need for NPC patients. TransportNPC™ study is a randomized, double-blind, placebo-controlled trial: The study aims to enroll at least 93 pediatric and adult patients with NPC and evaluate the safety, efficacy, and tolerability of Trappsol ® Cyclo™ administered intravenously and standard of care, compared to placebo and standard of care alone2. Trappsol ® Cyclo™ has received multiple designations from the FDA and the EU: The product has been granted Orphan Drug, Fast Track, and Rare Pediatric Disease Designations in the U.S. and Orphan Drug Designation in the EU3. The Rare Pediatric Disease Designation is a requirement for obtaining a Priority Review Voucher in the U.S4. 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.

On 12th December, the Australian NPC Disease Foundation hosted a virtual meet and greet with Cyclo Therapeutics, a biotechnology company developing a potential treatment for Niemann-Pick disease type C (NPC). The meet and greet featured a presentation by Dr. Caroline Hastings, a paediatric neurologist and an investigator in the clinical trials of Trappsol Cyclo, the drug candidate developed by Cyclo Therapeutics. Dr. Hastings explained the mechanism of action, the dosing regimen, and the outcomes of Trappsol Cyclo, which is a cyclodextrin-based therapy that aims to reduce the accumulation of cholesterol and other lipids in NPC cells. She also answered questions from the audience about the safety, efficacy, and availability of the treatment. The meet and greet was a valuable opportunity for the NPC community to connect with Cyclo Therapeutics and learn more about their work and vision. The Australian NPC Disease Foundation thanked Cyclo Therapeutics for their collaboration and dedication to finding a cure for NPC, and expressed their gratitude to all the participants for joining the event. If you missed the event or want to watch it again, you can view it here: https://us02web.zoom.us/rec/share/cb63U87m28eKkMXuCj_0ZM0aQ1LC4qSSreTUodJXsLgVF4ZKDwMozT-mZGzbdS3O.MwQt6CcF1fed-mlP Passcode: fu8@pgQ@

Raised $342.00 #NightMarket #raffle The GPPS Night Market was a huge success and we were happy to be apart of it! We raised $342 for the Australian NPC Disease Foundation, and spoke to many people whom had neveer heard of Childhood Dementia caused by Niemann-Pick disease. In this blog post, we’ll share our experience and provide tips for others who want to raise funds for a good cause. Event Overview: The GPPS Night Market was held on Friday, November 24th from 5:30 PM - 9:30 PM at Gladstone Park PS, 15-25 South Circular Rd, Gladstone Park VIC. We set up a stall to sell street apparel, hot drinks, homewares, and gifts. We had 4 volunteers on the day to help with set-up, selling and pack-down of our stall. Fundraising Results: We raised $342 at the event. This money will be used to support the Australian NPC Disease Foundation. Experience: Participating in the event was a lot of fun. We met many people who were interested in our products and the cause we were supporting. We also faced some challenges, such as dealing with the rain and maintaining momentum. However, we were able to overcome these challenges and have a successful event. Tips for Raising Funds: Here are some tips for others who want to raise funds for a good cause: Choose a cause you’re passionate about: It’s important to choose a cause that you care about. This will help you stay motivated and engaged throughout the fundraising process. Plan ahead: Make sure you plan ahead for the event. This includes things like setting up a stall, managing inventory, and promoting the event. Get the word out: Use social media and other channels to promote the event and your cause. This will help you reach a wider audience and raise more funds. Thank your supporters: Take the time to thank everyone who helped make your event a success. This includes volunteers, donors, and customers. In conclusion, the GPPS Night Market was a great success, as every dollar counts towards our goal. We hope that our experience and tips will inspire others to get involved in fundraising for a good cause. Interested in organising your own raffle or fundraiser? Contact us today for free advice and resources.

Zevra announces the completion of its acquisition of Acer Therapeutics. Zevra states they are committed to the arimoclomol expanded access program as a much-needed treatment of NPC, and their goal is to resubmit the arimoclomol New Drug Application (NDA) to the FDA by the end of 2023. Read the full statement from Zevra Therapeutics here: 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.