NATIONAL NIEMANN-PICK DISEASE FOUNDATION

Update from Zevra Therapeutics Zevra Therapeutics shared today that the U.S. Food and Drug Administration (FDA) announced that the recently formed Genetic Metabolic Diseases Advisory Committee (GeMDAC) will meet on August 2, 2024 to review Zevra Therapeutics’ New Drug Application (NDA) for arimoclomol for the treatment of Niemann-Pick type C (NPC). The meeting will be open to the public via livestream on YouTube. Read the complete press release and the letter to the Niemann-Pick community at t.ly/D7F1w.

In this week’s Three Things to Know we are excited to share updates and reminders for our upcoming Family Support & Medical Conference, and the recording from the recent INPDR Patient Reported Database webinar! 1. Conference Agenda: nnpdfconf.org/agenda 2. Conference Registration: nnpdfconf.org/register 3. INPDR Patient Reported Database Webinar Recording: nnpdf.org/inpdr-prd/

Welcome back to Three Things to Know! This week we share our latest newsletter publication, conference updates, and exciting Milestones! 1. NNPDF May Newsletter: https://lnkd.in/gf-enqkH 2. Upcoming family conference deadlines: nnpdfconf.org/   3. Community member Milestones: t.ly/phEJi

"Empowering North American NPD Families: Understanding the INPDR Patient Reported Database" is a collaborative effort between the U.S. and Canada, exploring the Patient Reported Database for Niemann-Pick families. Register for the webinar at https://t.ly/INPDR-PRD #INPDR #NNPDF #NPCanada #NiemannPick

Links for this week's Three Things to Know: 1. Empowering North American NPD Families: Understanding the INPDR Patient Reported Database webinar: Register at t.ly/INPDR-PRD 2. NNPDF Family Support & Medical Conference: nnpdfconf.org/ Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD): t.ly/pZA12

Last week NNPDF's Executive Director, Joslyn Crowe, and Family Services Manager Laurie Turner had the opportunity to lead a roundtable discussion at World Orphan Drug Congress USA focused on "The Impact of Rare Disease on Siblings". We explored several areas: 1.  What are the overt impacts of rare disease on siblings? What are the less apparent or unintended effects? 2. How do siblings take on a caregiving role within the family? 3. How can the insights of siblings into caregiving be used to impact policy? 4. Can siblings truly be considered “unaffected” if they are not diagnosed with the rare disease itself? What is a more accurate term than “unaffected siblings”? NNPDF is committed to providing superior services and supports to siblings through programming and research related to the unique needs and perspectives of this important group. Watch for more content over the coming months! #asmd #npc #raredisease

The International Niemann-Pick Disease Registry is our patient owned registry and yields valuable data for the Niemann-Pick community. Clinician input is critical. To learn more about this valuable registry, visit the International Niemann-Pick Disease Registry (INPDR)

Calling all NPC Patients and Families: your help is needed! Jackson Pountney, a PhD student at Aston University in Birmingham, needs your help. Jackson is undertaking a research project that will help us to better understand the impact of NPC on quality of life. This important work will help to advance understanding of NPC and support access to treatments in the UK and beyond. By taking a moment to support Jackson's work, you will help him to accurately communicate your experience of NPC and its impact on your life. You can participate in less than twenty minutes by completing the questionnaires in the INPDR Patient Reported Database (PRD) prior to the deadline of 14th April 2024. If you are already signed up to the PRD, you can sign in here: https://lnkd.in/ew3qAhzf If you are new to the PRD, you can learn more and quickly create an account here: https://inpdr.org/sign-up/ Further information on the project: This research project is part of a PhD programme focusing on understanding the quality of life in patients with Niemann-Pick disease type C (NPC) and their caregivers. The project will test whether the questionnaire designed specifically to assess quality of life in NPC patients and caregivers (known as the NPCQLQ) is capable of measuring this accurately and consistently. Once there is evidence to support the accuracy of the questionnaire, data collected can then be used in clinical trials and other studies to assess the impact of potential new treatments on patient quality of life. Your help is needed to make sure the questionnaire collects information accurately, and that it is able to reflect the impact on quality of life for of NPC patients and their carers. If you have any further questions please don't hesitate to get in touch with a member of the team by messenger or email at [email protected] - thank you in advance for your support! #registry #survey #opportunity #raredisease #niemannpick #inpdr

We are kicking off April with Three Things to Know! See below to learn about exciting upcoming events for the NPD community. 1. March Newsletter: nnpdf.org/march-2024-news/ 2. NPC Community Support Letter: t.ly/3Yywt 3. NNPDF Family Support & Medical Conference Information: nnpdfconf.org/