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Azafaros announces completion of 12-week Phase 2 RAINBOW study evaluating lead asset nizubaglustat in rare disease patients. Read the full statement from Azafaros here: Here is a summary of the article: Study Completion: Azafaros has completed a 12-week Phase 2 clinical study, RAINBOW, evaluating nizubaglustat in patients with GM2 gangliosidosis or Niemann-Pick disease type C (NPC). Study Details: The study was randomized, double-blind, placebo-controlled, conducted in Brazil, and involved 13 patients. It aimed to determine the safety, pharmacodynamics, and pharmacokinetics of nizubaglustat. Next Steps: Patients are now entering the extension phase where all will receive the study drug. Top line results are expected in Q2 2024, with presentations to the scientific community planned for later this year. Drug Information: Nizubaglustat is a small molecule with a dual mode of action, developed for rare lysosomal storage disorders with neurological involvement. It has received several designations and support from regulatory agencies. 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.

By Sarah Booth (Herald Sun), March 10, 2024. Read the full article here. Melbourne, Victoria – In a significant medical breakthrough, researchers have discovered that a drug commonly used to treat vertigo may offer new hope for children suffering from Niemann-Pick type C disease (NPC), a rare genetic disorder often dubbed “childhood Alzheimer’s.” NPC is a devastating condition that leads to severe neurological decline in children, affecting their movement, speech, and cognitive abilities. The disease is caused by the accumulation of cholesterol and other lipids in the cells, leading to cell dysfunction and death. The vertigo drug, which has been on the market for years, has shown potential in early-stage research to alleviate some of the neurological symptoms associated with NPC. This discovery is particularly promising because it involves repurposing an existing medication, which could expedite the process of making it available to patients. “Within the first couple of weeks of starting the drug … we did find some really big, big improvements, which were things that people take for granted every day,” - Mum, Amanda Hodgson While the research is still in its early stages, the findings represent a significant step forward. The potential to improve the lives of children suffering from NPC and provide relief to their families is a beacon of hope. Further studies and clinical trials will be necessary to confirm the drug’s efficacy and safety for this new use. A Family’s Journey with NPC The Hodgson family from Melbourne, Victoria, knows all too well the challenges of living with NPC. Their eighteen-year-old daughter, Autumn, was diagnosed with the disease two years ago – after teachers and parents noticed changes in her speech and movement. Since then, Autumn's parents, have been tirelessly seeking treatments and participating in research studies to help manage her condition. Despite the grim prognosis, the Hodgsons remain hopeful and proactive, applying for experimental treatments and raising awareness about NPC Research. Their journey highlights the urgent need for effective treatments and the profound impact such a breakthrough could have on families like theirs. This breakthrough offers a promising new avenue for NPC treatment, and as researchers continue to explore the possibilities, there is renewed hope for those affected by this challenging disease. Stay tuned for more updates as this exciting research progresses. Feel free to share your thoughts or any questions you might have about this promising development in the comments below! To help families like Autumn 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

Zevra Therapeutics Provides FDA Update On The PDUFA Action Date 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: Arimoclomol NDA Resubmission: Zevra resubmitted the New Drug Application (NDA) for arimoclomol, an investigational oral treatment for Niemann-Pick disease type C (NPC), a rare and fatal lysosomal storage disorder. The resubmission included additional analyses and data to support the efficacy and safety of arimoclomol. PDUFA Action Date Extension: The FDA extended the review period for the NDA and set a new Prescription Drug User Fee Act (PDUFA) action date of September 21, 20241. The FDA also confirmed its intention to hold an advisory committee meeting to discuss the resubmission. 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.

Meet our new and returning committee members! We are excited to introduce you to the team that will lead the Australian NPC Disease Foundation (ANPDF) in 2024/25. They were elected at our virtual Annual General Meeting, where we also discussed our future projects and goals to fight NP-C. The AGM covered various reports and discussions, including the addition of Dr. Brendon Boots and Dr. Sharmilla Kiss to the Scientific Advisory Board. Mandy's President's report highlighted key points such as patient updates, staff changes, and potential presentations to the PBAC. The AGM saw Mandy re-elected as President and Mary re-elected as Treasurer, with the creation of a new position of Assistant Treasurer, occupied by Sarah. The team also discussed a potential trial for a new drug, the status of various medical proposals and treatments, and fundraising strategies. Meet Amy (Board Secretary): Amy is a compassionate and dedicated individual who has a personal connection to Niemann-Pick disease Type C (NPC) through her daughter's diagnosis. Inspired by her daughter's strength and courage in facing the challenges of this complex health condition, Amy is committed to making a positive impact in the lives of individuals and families going through similar journeys. As the Board Secretary for the ANPDF, Amy will bring her passion and organisational skills to support the foundation's mission. Her goal is to foster collaboration, facilitate communication, and bring hope to those affected by NPC. The first General Manager of the ANPDF was also elected, Deanna Carpino, who has served in multiple Executive Committee positions over the last 5 years. She will be responsible for overseeing the operations and growth of the ANPDF in its endeavours to raise awareness and funds for research on Niemann-Pick disease type C. Executive Committee members: Mandy Whitechurch, President & Founder Mary Calcagno, Treasurer Amy Leddick, Board Secretary Andrew Carpino, Public Officer General Committee members: Sarah Mercuri, Assistant Treasurer Pip Johnston Marian Shoebridge Milva Carpino Vince Demarte Carly Heath General Manager: Deanna Carpino Scientific Advisory Board members: Ya Hui Hung, Chair Ashley Bush Caroline Hastings Felicity Munro Mark Walterfang Pip Johnston Tina Soulis Ellie Van Velsen Brendon Boots Sharmilla Kiss 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.

The Childhood Dementia Initiative (CDI) has made significant progress in 2023, thanks to the dedication of its partners and supporters. The initiative has focused on driving change across the healthcare systems responsible for the treatment and care of children with dementia. Read the full report from Childhood Dementia Initiative (CDI) here: Through collaborative research and engagement with experts, CDI has built a comprehensive body of evidence to support its mission. The initiative has also prioritized the involvement of families, recognizing their invaluable insights and experiences. Furthermore, CDI has achieved growth in funding and secured commitments for various projects, demonstrating its increasing impact and influence. Looking ahead to 2024, important dates include the Childhood Dementia Autumn Gala and Childhood Dementia Day, providing opportunities for continued support and involvement. This progress reflects the ongoing commitment to improving the lives of children with dementia and their families. 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.

The New England Journal of Medicine has published the detailed results of the IB1001-301 Phase 3, Pivotal study with N-acetyl-L-leucine (IB1001) for the treatment of NPC Read the full announcement from IntraBio here: The New England Journal of Medicine (NEJM) has published the detailed results of the IB1001-301 Phase 3, Pivotal study with N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease Type C (NPC): https://www.nejm.org/doi/full/10.1056/NEJMoa2310151 (note - the article/ quick take video, are available to download / view for free if you register an account). 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.

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