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On Friday, 24th June, about 30 people from all areas of Niemann-Pick disease joined us for our conference held online and in-person at The Florey Institute of Neuroscience and Mental Health to gain key insights and updates. This conference also served to connect both new and previously diagnosed people with peers, clinicians and researchers. Kicking off at The Mint for a relaxed BBQ dinner and drinks, all of our attending families were able to get acquainted. While our youngest debated the pros and cons of Lego Spiderman, the parents were able to meet and greet new and old faces. Some of us had not seen each other since the first NPC Conference held in 2019! As the youngest settled in with our childcare volunteers - families, researchers and clinicians gathered bright and early at The Florey for our one-day conference. After a quick yet excited announcement of our new merchandise, attendees moved on to the real business at hand. We received updates and information from organisations spanning clinical trials, the latest research and community support at varying levels. Visit our YouTube channel for the uploaded sessions coming soon Or download the conference handbook for information on the sessions presented Thanks to the positive feedback from our first hybrid conference in 2021, we were pleased to deliver another accessible event together. 43 households joined us online from both Australia and overseas throughout the day. Starting at 8.30am and closing at 5.30pm, our attendees left satisfied, yet ready for a good rest. Re-joining us the following day for a recap and lunch, the families once again gathered together before a final farewell. It was a fantastic opportunity to swap stories, advice and tears with other lived-experience experts of Niemann-Pick disease. As the final taxi left for the airport, we said goodbye and wondered... Who will return next year, and how many new faces will we meet. #NPConf2022 #familyfirst #conference Acknowledgments The ANPDF is grateful to their key partners and sponsors that enabled the attendance of our patients from all over Australia both in-person and virtually. Event Partner - Cyclo Therapeutics Venue Partner - The Florey Institute of Neuroscience and Mental Health Major Sponsor - National Disability Conference Initiative Grant funded by the Australian Government Department of Social Services Contributors - Soroptimist International of Melbourne, Machine Screen Printers Streaming Partner - Live Streaming services Thank you to the organising committee; Deanna Carpino, Andrew Carpino, Ya Hui Hung, Pip Johnston, Joy Lee, Mark Walterfang, and Mandy Whitechurch - for their tireless hours that were volunteered for the success of this event. Special mention to first-time ANPDF volunteer, Tailah Griffin, for her help on the day as both photographer and attendee coordinator and returning host, Felicity Munro. Thank you to all the new and returning speakers who kindly gave their time to delivering their experience and expertise to our Australian audience. Thank you to all involved. Our lucky attendees received one of our new Pom-Pom Beanies to take home and survive the Aussie winter season. You can also support our NPC Warriors by getting yours today:

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 September 2021 to April 2022 Please feel free to distribute and forward this issue, and to send feedback to: fw-pfrieger@gmx.de or frank.pfrieger@unistra.fr Meet Frank at our upcoming NPC Conference for pre-recorded lecture and live Q&A session. Tickets are available to purchase online here:

The ANPDF is proud to welcome Machine Screen Printers as our newest NPC Champion! Proving that strangers are just friends waiting to happen... Machine has come on board to support us with our 2022 NPC Conference tote bags and screen printing. Thanks guys! About Machine Screen Printers www.machinescreenprinters.com.au A family business, run by husband and wife team Jochen and Rebecca Orr, with a passion for t-shirts and screen printing that runs deep. Founded in 1999, they have built their business to now be one of the leaders in the screen printing industry priding themeselves on quality and service.

Dementia-CONNECT: Connecting the dots in Childhood Dementia disorders Researchers at The Sydney Children’s Hospital Network (SCHN) are seeking volunteer research participants to help identify commonalities in the symptomology of childhood dementia disorders. You are eligible to participate in this research if you are an individual or caregiver/guardian of an individual who has been diagnosed with a genetic condition associated with childhood dementia. What does participating in this research involve? If you decide to take part you would be invited to complete an online or hard copy survey that comprises of several tools to assess behavioural, cognitive, and developmental characteristics of the individual with childhood dementia. In addition, it asks questions that aim to capture the impact that childhood dementia has on psychosocial outcomes for an individual’s family/caregiver(s). This survey should take no longer than 40 minutes to complete. To learn more about the research study or to enquire about participating, please contact: Name: Jason Djafar Email: j.djafar@unsw.edu.au Project overview This project aims to investigate the common symptoms between disorders which cause progressive neurocognitive decline and loss of skills in children. We aim to uncover the size, scale, and impact of these conditions and the psychosocial outcomes for families. We hope that by grouping all these conditions together under the term of childhood dementia will raise more awareness and build momentum behind research for this field. We aim that this project will provide the foundation to guide future research, inform better guidelines for management and increase understanding about diagnosing and tracking the progression of these conditions. With exciting developments in the pipeline for childhood dementia across Australia, having this data will be invaluable for future directions to improve treatment and care. This study has been approved by the Sydney Children’s Hospital Human Research Ethics Committee (2022/ETH00240)

The ANPDF is proud to welcome Urban Caravans as our newest NPC Champion! Through a familial connection from one of our general committee members, we are excited to be able to raise awareness of Niemann-Pick disease to a whole new network of people. Kicking off at The Melbourne Caravan Supershow, April 6th - 10th, this fantastic company will help us raise awareness and donate from every sale at the show. Legends! To complete your expression of interest for the show, visit Urban Caravans online here: https://urbancaravans.com.au/eoi-caravan-show/ About Urban Caravans https://urbancaravans.com.au/ Urban Caravans is one of the few manufacturers of caravans that uses tig welds in the manufacturing process. These tig welds allow for a tough no rot aluminium frame that produces a long lasting and sturdy caravan. These caravans are ideal for semi off road or full off road use. About The Melbourne Caravan Supershow https://caravanshow.com.au/ The Caravan Caravan, Camping & Touring Supershow is the longest running caravan show with the 2022 edition to be the 69th consecutive running of the event. 2022 also celebrates the 70th year since the Association’s inception! The event's humble beginnings trace back to 1954 on parkland near where the Arts Centre of Melbourne sits today. The Supershow is the biggest, the best and the most well attened caravan and camping event in Victoria.

The second NPC Charity Gala was held February 26, 2022 - close to 2 years after the original date in Oct 2020. It was a great success, raising a little over $50,000 net for research conducted at The Florey Institute of Neuroscience and Mental Health. For an event that many believed would barely break-even, we are so thrilled to have delivered on a truly engaging night that raised fantastic awareness and funds for research on NP-C treatments. The 2022 NPC Charity Gala faced many unique challenges, right up to the last week when we excitedly included dancing back into the event and removed masks from our list of requirements. The night kicked off early with our corporate VIPs and NPC families at an early VIP Reception overlooking the racecourse for a meet and greet. However, the gala really began when the students from the Patrick School of the Arts Academy took the stage with their fantastic performance. Thank you @melbournefollies and @patrickschoolofthearts! Guided by our MC Michael Pope, gala attendees enjoyed a delicious 3-course meal sprinkled with loads of entertaining and genuine moments. Our founder and vice-president, Mandy Whitechurch kindly shared her journey and passion in an opening interview with Pope, before we were also introduced to our resident street artist. Damian is an incredibly talented Mural and Street artist who shared his vision with the room, allowing us to witness the completion of the NPC Custom Artwork that was later auctioned live. We walked in the shoes of someone who has invisible symptoms thanks to the Australian premier Niemann-Pick UK's short film launch. And felt the rush as we witnessed the record-breaking sale of the Kobe Bryant signed guernsey sold at live auction. Without losing sight of our goals, the whole room helped us to raise awareness by joining in our Bingo game, in which 30 lucky players walked away with a cooking experience voucher. And we were excited to offer the chance to win more prizes through our quiz/horse race game that had to be seen to be believed. Yet, it wasn't until we finally announced the winners to our Heidibuild 'Yard Reno Rescue' Raffle, that our attendees could finally let their hair down. Read more about the raffle results here. While there is always room to improve, the main feedback we had was, "I wish there was more time for dancing!" It was an incredible effort from our events team to deliver an event that pivoted multiple times around postponements, government restrictions, attendee changes and agenda changes - and still deliver a great night. The ANPDF would like to extend a grateful thank you to Alive Events Agency for their fantastic work. To all of our event partners, sponsors and contributors - thank you. Bringing hope and funding to our community is no mean feat, and we couldn't do it without you. We hope each antendee enjoyed the night, and look forward to seeing you all at the next NPC Charity Gala! Don't forget to leave your feedback below. Link to the full Events Gallery here. #NPCgala

Raised $19,550.00 #NPCgala #raffle Winners: 1ST PRIZE WINNER H. Busch 2ND PRIZE WINNER E. Pititto 3RD PRIZE WINNER L. Mills 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! On Sunday, the Australian NPC Disease Foundation (ANPDF) team was excited to return (virtually) for our Annual General Meeting. After recommiting to our goals of raising awareness, supporting families, funding research for better treatments, the following committee team was elected; Executive Committee members: Deanna Carpino, President Mandy Whitechurch, Vice-President & Founder Chris Makulski, Treasurer Pip Johnston, Board Secretary Andrew Carpino, Public Officer General Committee members: Marian Shoebridge Mary Calcagno Milva Carpino Ruth Gott Sarah Mercuri Vince Demarte Scientific Advisory Board members: Ya Hui Hung, Chair Ashley Bush Caroline Hastings Felicity Munro Joy Lee Mark Walterfang Pip Johnston Tina Soulis 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 rollercoaster continues, so please join us for the up-swing with only 9 days until the 2022 NPC Charity Gala! Yes, it's true. We have been given the green light to open our indoor dancefloor. So pack away your "I can only wear these if I'm sitting down the whole night" shoes, and get ready! Density limits in hospitality venues have been scrapped, people will no longer need to check in at supermarkets and retail venues, and dancefloors are back. From 9news.com.au Stay tuned for a full update on all COVID restrictions by Tuesday, 22 February 2022. For any queries or concerns on how the ANPDF and Alive Events are planning towards a COVIDsafe event, please contact Deanna on 0420 985 510 or deanna@npcd.org.au. #NPCgala #fundraising

Hosted by the Helping Hands Group, our online event app is now live and accessible from your web browser (no downloads required). ENTER THE APP NOW From our app, Gala guests and fans from home will be able to register to; Buy tickets to our Yard Reno Rescue raffle proudly sponsored by Heidi Build Bid on our Silent Auction Items View our Live Auction Items Donate to the ANPDF towards the total amount raised on the night Get ready for a truly great night and register your account today. Please note that you do not have to be present at the gala to participate in the raffle, although it is only available to residents in Victoria aged 18 and over and will be subject to terms and conditions. #NPCgala #fundraising This 'Yard Rescue Reno' raffle is being held for Australian NPC Disease Foundation Inc. c/o 3 Waller St Benalla VIC 3672. The Raffle commences on the 1st of February 2022, closes on the 26th of February 2022 and will be drawn on the 26th of February 2022 at Flemington Racecourse at 10pm. The draw will be conducted using a Helping Hands Group System draw process. Ticket buyers do not have to be present at the draw. Winners will be contacted by phone and/or email within 2 days after draw. Details of the Winner(s) will be announced at the 2022 NPC Charity Gala, and displayed at www.npcd.org.au. State(s) where tickets are on sale VIC. Persons under the age of 18 years are unable to enter. Prizes are not transferable and non-cash prizes are not redeemable for cash unless otherwise stated or permitted by state regulations. Prizes may be substituted, subject to each participating state's legislative requirements. Some images are display only and may not be a true reflection of the prize. VIC PERMIT NO 10273/21

37 days to go and we are more determined than ever to deliver a fantastic and uplifting event. As with the Australian Open, we have adapted our Gala Dinner to ensure our attendees are as safe as possible. Current COVIDSafe settings (in line with Victorian government guidance) are; Reduced density quotient to one person per two square metres; meaning that our Gala capacity has been reduced from 770 to 700pax. Our indoor dancefloor has been closed; inspiring our events team to create a much more entertaining night with new activities being added to the itinerary. All workers and attendees at the Gala must be fully vaccinated or have a medical exemption unless they are under the age of 12 years and 2 months. All workers and attendees at the Gala will be required to check-in. Masks continue to be a requirement in all indoor settings outside of the home for anyone over the age of eight years old, however once you are seated, they may be removed. Throughout the night, the staff will be (wherever possible); providing seated service for both food and activity participation encouraging physical distancing and minimising patron flow, congregation points and crowding providing hand sanitiser and cleaning equipment and high-touch surfaces Thankfully, due to the spacious and beautiful area in the Atrium room at the Flemington, we are able to maximise ventilation despite being an indoor space. The Gala events team will continue to monitor the guidelines presented by the Victorian Government and continue to adapt towards a safe yet entertaining event. For any queries or concerns on how the ANPDF and Alive Events are planning towards a COVIDsafe event, please contact Deanna on 0420 985 510 or deanna@npcd.org.au. We look forward to seeing you at our second and long-awaited NPC Charity Gala Dinner to celebrate the resilience of the NPC Community, fine food, performance and lots of laughs. Victoria, we have missed you and look forward to joining you again next month. In case your besties missed out on tickets, they are back on sale until February 6th, 2022. #NPCgala #fundraising

"Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick Syndrome type C1" Read the full article here: Article Link An exciting collaboration of researchers including our own Dr. Ya Hui Hung and Prof. Mark Walterfang, have released a paper exploring the T- and killer-cell function in Niemann-Pick disease type C. "Overall, our study revealed that NPC1 deficiency has a deleterious impact on CTL (but not natural killer cell) cytotoxicity that, in the long term, may predispose NP-C1 patients to atypical infections and impaired immune surveillance more generally."