Welcome to the Annual Australian Niemann-Pick Disease Conference 🌟 Join us at the Florey Institute of Neuroscience and Mental Health in Melbourne, where patients, clinicians, and researchers come together to combat Niemann-Pick disease type C (NP-C) and Acid Sphingomyelinase Deficiency (ASMD). ✔️Keynote Speakers & Panels: Hear from leading experts and advocates, as they share insights on the latest clinical trials and research advancements. ✔️Research & Clinical Updates: Discover the most recent developments in NP-C research, from gene therapy to novel drug treatments. ✔️Networking Opportunities: Connect with peers, share experiences, and foster collaborations within the NP-C community. ✔️Community Engagement: Listen to the voices of those living with NP-C, their families, and caregivers, ensuring their perspectives are heard and valued. Don’t miss out on this unique opportunity to learn, connect, and support one another in the fight against Niemann-Pick disease. Together, we can make a difference! 💪 Subscribe to our channel for more updates and watch the full conference sessions. #NPConf #NiemannPickOz #NPCaustralia #NiemannPickDisease #Research #Community #Hope

An Update on Clinical NP-C Research in Melbourne In-Person Presentation by Mark Walterfang, Royal Melbourne Hospital Participation in research at all levels is crucial to move the NP-C field forward, as greater disease understanding can open up new pathways for treatments. This presentation will focus on recent research in the field, including neuroimaging and biomarker research from the Royal Melbourne Hospital, and collaboration with our research partners. Recent publications will be highlighted to demonstrate how participation in research by patients and their families helps us push the boundaries of knowledge on the disease.

Rare Disease Advocacy: Learnings from Rare Voices Australia In-Person Presentation by Nicole Millis, CEO of Rare Voices Australia Advocacy has been an important driver of positive change in rare disease. Since then, RVA has led the Action Plan's collaborative implementation. Rare Voices Australia (RVA), with its focus on systemic advocacy and policy reform has many learnings about influencing change for the rare disease sector. One of the greatest policy wins in recent times was the collaborative development of the Australian Government's National Strategic Action Plan for Rare Disease (the Action Plan) launched in 2020. Since then, RVA has led the Action Plan's collaborative implementation. Nicole will present on how the rare disease sector, including RVA Partners such as the Australian NPC Disease Foundation, continues to utilise the Action Plan to bring about positive change.

Acid Sphingomyelinase Deficiency (ASMD)-Exploring the other Niemann Pick disease Live Feed Presentation by Justin Hopkins This talk will explore the similarities and differences between ASMD and NPC including why they share the same name. We will also review ASMD prevalence, spectrum of disease, common signs and symptoms, treatments and unmet need.

The International Niemann-Pick Disease Registry: A Global Update Pre-recorded Presentation by Solomon Mbua, Conan Donnelly, Shaun Bolton, and Jackie Imrie from International Niemann-Pick Disease Registry (INPDR) The International Niemann-Pick Disease Registry is a web-based, patient-led independent registry for the collection of prospective and retrospective clinical data from Niemann-Pick Disease patients. Consisting of a Clinician Reported Database (CRD) and a Patient Reported Database (PRD). The registry has almost doubled in size over the last five years and now includes 430 patients (350 with NPC and 100 with ASMD) across 20 clinical sites in 11 different countries in the CRD including North and South America and Europe. A further 35 sites are in the pipeline, including the Royal Melbourne Hospital in Melbourne, Australia. There are also 148 patients included in the PRD (115 with NPC and 33 with ASMD), 10 of which are from Australia. The INPDR is a community resource used to illuminate the natural history of NPD, to provide insights into the impact Niemann-Pick disease on the lives of patients and their careers and ultimately to improve outcomes for patients and their families. This presentation will describe the patient population included in the INPDR and an outline of the research that the INPDR has supported to date. We will also provide an overview of priorities for the registry for period 2024-2026.

Niemann-Pick C1(NPC1) in Israel: what can we learn from this unique population? In-Person Presentation by Orna Staretz-Chacham, Soroka Medical Centre NPC1 is a pan-ethnic, autosomal recessive, ultra-rare disease. In Israel, several populations are affected by NPC, including the unique Bedouin communities and Ashkenazi Jews in addition to immigrants from eastern Europe (e.g., Russia, Ukraine). The Bedouin patients often harbor homozygous mutations due to consanguinity, leading to earlier diagnosis due to prior affected siblings and large families. This situation has led to the unique ability to diagnose patients at birth and initiate early intervention. Most Israeli patients have the neonatal and early- infantile phenotype, some of whom have interstitial lung disease (often fatal), similar to that seen in NPC2 patients. Premature infants with NPC1 may have a delayed presentation of a severe phenotype. In our population, NPC1 can present antenatally as hydrops, congenital thrombocytopenia, or congenital cholestasis. We have reported elevated alpha-feto-protein as a marker for NPC1 in cholestatic neonates. There is no definitive treatment for NPC, though there are promising emerging therapies. Miglustat is not well tolerated by all patients and may be ineffective in very young children. Population studies, such as the NPC Israeli cohort, contribute to our knowledge of the clinical and genetic heterogeneity of the disease, and in this case, also make significant contributions to the natural history and management of the very youngest patients who often have more unusual presentations and severe disease. The Israeli investigative sites are active participants in international clinical trials and contributing meaningful data needed to assess response to emerging therapeutics as well as assessment of safety in a varied (age, disease manifestations) population.

Caring for the Carer In-Person Presentation by Leah Lonsdale, Carer Engagement & Knowledge Centre Manager at Carers Victoria In 2023, Carers Victoria’s Carer Engagement team conducted a series of carer polls across Victoria, asking carers about the main issues or challenges they were facing at that point in time. Carer health and wellbeing was in the top 3, along with financial issues and navigating the various service systems. In this session, Leah will explore why carer support is crucial and outlines some supports available to carers and caring families.

Childhood dementia - progress, updates and future challenges In-Person Presentation by Kristina Elvidge, Head of Research Childhood dementia comprises a devastating, under-recognised group of disorders which are individually rare, but a burden study published in Brain in 2023 found that collectively childhood dementia affects 1 in 2,900 births. The shared presentation and impacts of the more than 100 disorders causing childhood dementia present a powerful opportunity to adapt health systems to better care for and support children and families. The development of new, effective therapies can also be accelerated through research that concurrently investigates multiple childhood dementias, or mechanisms common to multiple disorders. Additionally, the shared utilisation of data, technology, and infrastructure can deliver significant efficiencies. This presentation will give an update on recent progress made for childhood dementia and strategic priorities for the future.