Neuroacanthocytosis Advocacy USA, Inc.

31/07/2025

Hot off the press! Check out our latest NA News!

Thank you for reading this 48th edition of NA News. Inside this issue you will find information about the upcoming 12th International Meeting of Neuroacanthocytosis, Cohen Syndrome, and other VPS13-related diseases, the latest news on research from Italy and New York, and a story on a recent Q&A fo...

24/07/2025

✨ You’re invited!
Join us in Lausanne, Switzerland, 12–14 September 2025 for the
12th International Meeting on Neuroacanthocytosis Syndromes, Cohen Syndrome, and VPS13-related Disorders.

This global event brings together researchers, clinicians, patients, families and carers to:
✔️ Share the latest scientific research
✔️ Learn more about living with VPS13A and XK diseases
✔️ Connect with others in the NA community

📍 Venue: Jules-Gonin Eye Hospital, Lausanne

🔗 Full programme & registration: https://events.ophtalmique.ch/evenement/vps13-meeting/

🔗 More details (English, Deutsch, Español) updated regularly: https://naadvocacy.org/12th-international-meeting-for-neuroacanthocytosis-syndromes-cohen-syndrome-and-vps13-related-disorders/

Everyone is welcome, whether you’re a patient, family member, researcher or supporter. Let’s move research and care forward, together.

21/06/2025

Thank you for reading this 42nd edition of NA News. We are pleased to announce the winner of the 2023 Glenn Irvine Prize, Dr. Kevin Peikert (shown above), and to provide details on the upcoming 11th International Meeting on Neuroacanthocytosis Syndromes to be held in Homburg/Saar, Germany in mid-Sep...

09/06/2025

Hopeful news!!!

🧬 New research uncovers how VPS13A disease (also known as chorea-acanthocytosis), a rare genetic disorder, may cause early muscle aging

Scientists led by Professor Lucia De Franceschi (photo - far right) at the University of Verona found that without the gene, muscles struggle to clean up waste proteins, lose energy, and show signs of stress and inflammation - much like in aging. This could explain why some patients experience muscle weakness early on. Promisingly, a known drug (rapamycin) helped restore cell health in mice. This discovery is a potential stepping stone on the path for treatment and better quality of life for people with VPS13A disease.

This study was recently published in Acta Neuropathologica Communications and was supported in part by the Advocacy for Neuroacanthocytosis Patients and Neuroacanthocytosis Advocacy USA, Inc., which provided funding for the maintenance of the mouse model used in the research.

Full paper here: https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-01997-y

PS - Veronica Riccardi (photo - third from the right) is the first author of the paper.

21/05/2025

Just published: 21st VPS13 Forum Meeting Report!

Real questions from our community answered by leading experts.

🧠 Genetics, speech and swallowing therapies, cognitive health, research progress, and much more.

Yes, the report is long, but trust us, it’s worth reading. Whether you live with VPS13A or XK disease, care for someone who does, or support the rare disease community, this is essential reading.

📖 Read the full report:https://naadvocacy.org/wp-content/uploads/2025/05/REPORT-21st-VPS13-Forum-28Apr2025.pdf

Let’s keep sharing knowledge. Let’s keep searching for clues to a cure.

14/04/2025

31/03/2025

We had a photo shoot with Alex 📸 on her birthday week! Did you spot her book and our brand new banner yet?

Alex continues to promote her amazing book 'Cataclysmic Limericks'. She kindly pledged the profits from the sales as donation to support the activities of our charity – thank you, Alex! 🙏

The book can be ordered and delivered worldwide: https://www.lulu.com/shop/alexandra-irvine/cataclysmic-limericks/paperback/product-gj28256.html The publisher is ‘print-on-demand’ as close to your area as possible, so the shipping costs and the carbon footprint are kept to a minimum.

This is a preview of the book you can also share with others: https://www.youtube.com/shorts/cd84mz7H33E

28/02/2025

The latest updates about neuroacanthocytosis syndromes, VPS13A & XK

22/02/2025

Always grateful to Despina, Charity Manager at our sister organization in London, for translating these important scientific forums into language we all can understand.

With one week to go to , we’re delighted to share with you the report from the 20th VPS13 Forum on 10 February 2025 👉https://naadvocacy.org/wp-content/uploads/2025/02/REPORT-20th-VPS13-Forum-10-Feb-2025.pdf

We had some very interesting talks and conversations about the lipid transfer and calcium.

Plus we have updates about the 12th International Symposium which will take place in Lausanne, Switzerland, from Friday, 12 September to Sunday, 14 September. More details to follow soon!

31/01/2025

04/11/2024

Our 46th NA News is out! See what the advocacies have been up to in these past few months.

We have lots of stories and updates from our international patient community sharing interesting experiences and views.

We also have the latest updates from the scientists’ circles - our 18th and 19th VPS13 Forum and other events we’ve been attending.

Neuroacanthocytosis Advocacy USA, Inc.



http://newsletter.naadvocacy.org/uftevn9sylp1ote5zegv48?email=true&lang=en&a=11&p=64907193

15/08/2024

Miss the recent VPS13 forum? Check out this just published report. Lots of good information on feeding dystonia.

Just published! 👇
https://naadvocacy.org/wp-content/uploads/2024/08/REPORT-18th-VPS13-Forum-29-Jul-2024.pdf

Read all the details about the 18th VPS13 Forum. There were interesting presentations about the nutritional challenges among people with feeding followed by a Q & A session where patients, their family members or carers asked questions which were answered by a panel of experts.