Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience NNPDF Scientific Advisory Board member Joshua Baker, MD along with Rachel E. Hickey share information on ASMD newborn screening in this recent article published in the Journal of Inherited Metabolic Disease. Read the article at https://t.ly/qIJK2
NATIONAL NIEMANN-PICK DISEASE FOUNDATION
Non-profit Organizations
Fort Atkinson, Wisconsin 471 followers
Supporting patients and families affected by Niemann-Pick disease, through education, collaboration and research.
About us
NATIONAL NIEMANN-PICK DISEASE FOUNDATION is a nonprofit organization management company based out of PO BOX 49, Fort Atkinson, Wisconsin, United States.
- Website
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https://nnpdf.org/
External link for NATIONAL NIEMANN-PICK DISEASE FOUNDATION
- Industry
- Non-profit Organizations
- Company size
- 2-10 employees
- Headquarters
- Fort Atkinson, Wisconsin
- Type
- Nonprofit
- Founded
- 1993
- Specialties
- Family Support, Patient Advocacy, and Research
Locations
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PO BOX 49
Fort Atkinson, Wisconsin 53538, US
Employees at NATIONAL NIEMANN-PICK DISEASE FOUNDATION
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Joslyn Arnon Crowe
Executive Director at National Niemann-Pick Disease Foundation
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Garland Alvey
Cybersecurity superhero and rare disease dadvocate. Fighting to protect digital frontiers by day and championing the cause of those battling…
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Jill Beirl
Communications & Marketing Coordinator at National Niemann-Pick Disease Foundation
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Liz Heinze
Nurse Extern
Updates
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We are happy to share the Summer 2024 edition of the NNPDF newsletter where you’ll find information on upcoming regional Family Events, A Message from our Executive Director, upcoming Community Update Series, Family Conference Recap, special Milestones and more. Visit https://lnkd.in/gyeJFqTX
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Update from Zevra Therapeutics Zevra Therapeutics is pleased to share a letter to the community following Friday’s positive vote, which also includes a link to the press release. The announcement shares that the U.S. Food and Drug Administration (FDA) Genetic Metabolic Diseases Advisory Committee (GeMDAC) voted favorably that the data support that arimoclomol is effective in the treatment of patients with Niemann-Pick disease type C (NPC). Zevra will continue to work closely with the FDA and respond to any outstanding questions they may have in the coming weeks. The assigned Prescription Drug User Fee Act (PDUFA) action date for arimoclomol is September 21, 2024. Read the complete press release and letter to the community at https://lnkd.in/g2_zSFqu
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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.
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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/
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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
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"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
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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
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Calling all North American based NPD families - we have an interesting webinar planned for later in the month entitled "Empowering North American NPD Families: Understanding the INPDR Patient Reported Database" 👩💼 This event is a collaborative effort between the US and Canada, exploring the PRD. Get ready to gain insights directly from our clinical research coordinator, Shaun Bolton and hear from our esteemed ambassadors; Harry Koujaian, Justin Hopkin, and Pam Andrews, as they share their unique perspectives on the INPDR We are also honoured to welcome Sandy Cowie, President of the International Niemann-Pick Disease Alliance (INPDA) , to the webinar to represent the Canadian community and further empower the registry. Save the date: May 31st at 1pm ET / 6pm BST / 7pm CEST. Click the link below to register for the webinar and ensure you don't miss out on this session: https://t.ly/INPDR-PRD Let's come together to empower NPD families and advance our understanding of the INPDR. We hope to see you there! #INPDR #NiemannPick #Webinar #RareDisease #Registry
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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