May 2024 Newsletter
Jill Beirl
Message from the Executive Director | Family Support & Medical Conference | Conference Registration | Conference Accommodations | Salt Lake Bees Baseball Game | Speaker Announcements | Special Store Offer for Conference Attendees | Upcoming Events | NNPDF In Action | Milestones | Fundraising | Comprehensive Care Centers | Family Assistance & Support Program | ASMD Accelerate | Clinical Trial Updates | The Assistance Fund | NNPDF Membership
Message from our Executive Director
Dear Friends,
We are only 6 weeks away from our annual Family Support & Medical Conference! I am so excited to see everyone in Salt Lake City this July. The conference is such a highlight in our year – a weekend of meaningful connections, new friendships, education, scientific updates, and most of all, of belonging.
I am thrilled to announce our keynote speaker as Dr. Klaus Romero from Critical Path Institute (CPath). Dr. Romero will share an update on the fascinating and important accomplishments of the Critical Path for Lysosomal Disease Consortium. NNPDF is an active member of this consortium which unites regulators, pharmaceutical and biotech companies, academics, and patient advocacy organizations to advance drug development in diseases including Niemann-Pick.
In addition to our first-rate educational sessions, family services sessions, and incredibly FUN gala dinner, there is plenty of time for gathering and connecting with other Niemann-Pick families. Don’t miss the chance to purchase discounted tickets for a great night of baseball as the Salt Lake Bees take on the River Cats at Smith’s Ballpark on Friday, July 12th at 6:35pm.
Some important conference deadlines are approaching – see below for all the details!
I look forward to seeing you in Salt Lake City!
Kind regards,
Joslyn Crowe
NNPDF Executive Director
July 11-13, 2024 | Salt Lake City, Utah
Be sure to watch NNPDF communications for important updates. Visit nnpdfconf.org for all conference information including Things to Do in the Salt Lake City area!
Conference Registration
Conference Shirt Deadline – Register by June 10th to ensure your complimentary 2024 NNPDF Family Support & Medical Conference shirt will be waiting for you at the conference!
First Time Attendee Discount: Enjoy a 10% discount off your registration! We’re happy to have you join us!
June 28th is the final day for registration so please be sure to complete your registration by this important deadline.
Accommodations
Reserve by June 24th
NNPDF group rate will be available until June 24th, 2024. NNPDF Group Rate is $159 ($184.15 including taxes) per night. The NNPDF hotel group rate is available three days before and three days after the conference, dependent on hotel availability.
Salt Lake Bees Baseball Game
Special Promotion for NNPDF Family Conference Attendees
Join other NNPDF families for a great night of baseball as the Salt Lake Bees take on the River Cats at Smith’s Ballpark on Friday, July 12 at 6:35 pm. (Please note that you will need to make your own transportation arrangements as it will not be provided.) Ballpark information can be found at milb.com/salt-lake/ballpark
Get your NNPDF Group tickets at t.ly/SaltLakeBees-NNPDF
Speaker Announcements
Special Offer for Conference Attendees
We are excited to share a special offer for Family Support and Medical Conference attendees.
Order your NNPDF gear by June 11th and take advantage of FREE SHIPPING when you pick up your merchandise at the NNPDF Family Support & Medical Conference!
It’s easy!
- Select your gear and place your order
- In Shipping Method select “PICK UP AT CONFERENCE for FREE”
- Grab your gear at the conference!
NNPDF Upcoming Events
NNPDF and Niemann-Pick Canada present Update from the International Niemann-Pick Disease Registry
May 31, 2024 | 1:00pm ET
Register in advance.
NNPDF In Action
NNPDF’s Executive Director, Joslyn Crowe, and Family Services Manager, Laurie Turner led a roundtable discussion at World Orphan Drug Congress USA focused on The Impact of Rare Disease on Siblings. NNPDF Board Members Taylor Sabky (center) and Paul Merrigan (not pictured) also represented NNPDF at the conference.
Justin Hopkin, NNPDF Scientific Advisory Board member, was a featured speaker at the EveryLife Foundation Scientific Workshop. Justin discussed “Challenges in Very Small Population Therapy Development” as related to Niemann-Pick type C. Joslyn Crowe, NNPDF Executive Director, was in attendance as a member of the workshop’s planning committee.
Milestones
Congratulations to Evren Ayik on his recent graduation from California State University Fresno. Evren earned his bachelor’s degree in Liberal Studies and graduated with Magna Cum Laude honors. He will be returning in the fall to earn his teaching credentials and master’s degree. Way to go Evren!
Congratulations to Morgan Hill! Morgan has achieved a significant milestone as part of the 2024 graduating senior class at Syracuse High School. Despite the challenges she faced, Morgan persevered, stayed strong, and successfully completed her high school journey. Way to go Morgan!
If you have a special Milestone you’d like to share with your Niemann-Pick community please send us a photo and the details at [email protected].
Fundraising
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.
THANK YOU to Laura Fischer, Brittany Gittings, David Nead, Jessica Martin, and Macenzie Susan Waits who recently held a fundraiser to help support NNPDF’s mission!
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!
Comprehensive Care Centers
NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!
If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].
Family Assistance & Support Program
The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.
ASMD Accelerate
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
The Assistance Fund
Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.
NNPDF Membership
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
Click here to update or enroll today!
For assistance contact Laurie at [email protected] or call 920-542-4038
Supporting one another. Supporting our community.
April 2024 Newsletter
Jill Beirl
Family Support & Medical Conference | Conference Registration | Conference Accommodations | Endurance Award | ASMD Scholarship | Community Update Series | NPC Quality of Life Research Study | National Volunteer Month | Assessment of health state utilities associated with ASMD | Research Fellowship Updates | Comprehensive Care Centers | Fundraising | Family Assistance & Support Program | NNPDF Store | ASMD Accelerate | Clinical Trial Updates | The Assistance Fund | NNPDF Membership
July 11-13, 2024
Salt Lake City Marriott City Center | Salt Lake City, Utah
We look forward to seeing you at our 32nd Annual NNPDF Family Support & Medical Conference! NNPDF has many exciting opportunities to connect with expert clinicians, researchers, and other Niemann-Pick families who share your journey. Be sure to watch NNPDF communications for important updates. Visit nnpdfconf.org for all conference information including Things to Do in the Salt Lake City area!
Early Bird Registration Deadline April 30th
Conference Registration
Discounted Registration Rate:
Register by April 30th to take advantage of discounted registration fees.
Family Registration Discounted Rate:
EARLY BIRD REGISTRATION ONLY – Register 2 adults and 2 children (age 17 and younger) at the early bird registration rate of $500 (adults $175 and children $75). Any additional children in your immediate family will be free of charge.
First Time Attendee Discount:
Enjoy a 10% discount off your registration! We’re happy to have you join us!
Accommodations
Reserve by June 24th
NNPDF group rate will be available until June 24th, 2024. NNPDF Group Rate is $159 ($184.15 including taxes) per night. The NNPDF hotel group rate is available three days before and three days after the conference, dependent on hotel availability.
NNPDF Cora Sterling Endurance Award
Application Deadline May 15th
Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community.
Joele Ruppert & Joseph Colton ASMD Scholarship
Application Deadline May 15th
NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship. This scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions.
Community Update Series
NNPDF Community Update Series on Arimoclomol: Information Session for People Interested in Submitting Letters to FDA Advisors
May 16, 2024 | 8:00pm ET
Register in advance.
NNPDF Community Update Series on Arimoclomol: Information Session for People Interested in Speaking During Possible FDA Advisory Meeting
May 30, 2024 | 8:00pm ET
Register in advance.
May 30, 2024 | 8:00pm ET
Register in advance.
NNPDF and Niemann-Pick Canada present Update from the International Niemann-Pick Disease Registry
May 31, 2024 | 1:00pm ET
Registration and details to follow.
May 31, 2024 | 1:00pm ET
Registration and details to follow.
Reminder: Invitation to Participate in NPC Quality of Life Research Study
We want to remind you about the opportunity to help a PhD research project exploring how we measure quality-of-life in people living with Niemann-Pick Disease type C (NPC). Your participation would help researchers gain a deeper understanding of the challenges faced by those living with NPC and influence future research and therapy development. If you haven’t already completed the questionnaire (or if you have started but not completed the enrolment process), we would greatly appreciate your participation by joining the Patient Reported Database (PRD).
Visit registry.inpdr.org/insight/prd/ or scan the QR code to join. If you have questions about the project or if you have questions about the PRD, please email [email protected].
Your contribution will help in advancing NPC research and ultimately improving the lives of those affected by this condition. Thank you for considering being a part of this important project.
Thank you for your support. Learn more about this project.
National Volunteer Month
Volunteers are essential in the progress of Niemann-Pick Disease awareness and your NNPDF organization! During NATIONAL VOLUNTEER MONTH we acknowledge each of you who have generously given your time and energy to keep your NNPDF family support organization moving forward. We truly appreciate and THANK each and every one of you for all you do.
- NNPDF Board of Directors volunteer selflessly to serve in these vitally important roles.
- Scientific Advisory Board members advocate for your cause.
- Family conference leaders and helpers give their time tirelessly and unconditionally.
- Friends and family members volunteer to raise funds that contribute to Niemann-Pick disease research and support your family organization programs.
- Families give their time in simply supporting one another through the trials and struggles that Niemann-Pick disease brings.
YOUR COMMUNITY IS GROWING STRONGER BECAUSE OF ALL OF YOU!
Supporting One Another. Supporting Our Community.
Assessment of health state utilities associated with adult and pediatric ASMD
Travis Obermeyer, NNPDF Board member, and Evren Ayik, ASMD community member, co-authored the recently published article in The European Journal of Health Economics titled “Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD)”. Read the complete article.
NNPDF Research Fellowship Updates
Thank you to NNPDF Research Fellowship recipients Bilal Abdul Moiz and Sara Naya Forcano who have recently completed their fellowship commitment to the research of Niemann-Pick disease. The Peter G. Pentchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship awards are intended to support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick Disease. Read their project lay summaries.
Comprehensive Care Centers
NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!
If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].
Fundraising
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.
THANK YOU to Garland Alvey, Corinna Luster Nuñez, Tammy Scrivner, and Alyssa Gallegos who recently held a fundraiser to help support NNPDF’s mission!
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!
Family Assistance & Support Program
The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.
NNPDF Store
Conference pre-order sale coming soon!
Did you know our store has some great items to help raise awareness for Niemann-Pick Disease? Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options – available in T-Shirt or Hoodies. Personalization for your family is available. Be sure to check out our NNPDF apparel and logo items and send us your photos with your new gear! Allow 2 weeks for delivery. US only.
ASMD Accelerate
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
The Assistance Fund
Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.
NNPDF Membership
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
Click here to update or enroll today!
For assistance contact Laurie at [email protected] or call 920-542-4038
Supporting one another. Supporting our community.
March 2024 Newsletter
Jill Beirl
Message from the Executive Director | Family Support & Medical Conference | Family Advisory Working Groups | NNPDF Conference Scholarships | Conference Registration | Conference Accommodations | NNPDF Cora Sterling Endurance Award | ASMD Scholarship | Rare Disease Week on Capitol Hill | Volunteer Opportunities | #RAREis Scholarship Application | Pfrieger’s Digest | NPC & ASMD Newborn Screening Webinar Recording | Rare Disease Advisory Council | ASMD Accelerate | Comprehensive Care Centers | NNPDF Regional Gather | NNPDF Store | Clinical Trial Updates | Fundraising | Family Assistance & Support Program | The Assistance Fund | NNPDF Membership
Message from our Executive Director
Dear Friends,
We woke up to the wonderful news yesterday that IntraBio’s New Drug Application (NDA) with IB1001 for NPC was accepted for filing by the US Food and Drug Administration (FDA) and granted priority review. The review date is set for September 24th, 2024. This means that our NPC community now has two drugs under review for potential approvals by the FDA in addition to the robust pipeline of drugs currently in clinical trials. We are on the verge of changing the course of Niemann-Pick type C by having approved therapies available to families which could allow them to make treatment decisions early in their diagnostic journey. It has been a long road to get here, and often a challenging and winding path for families. I remain optimistic that the future is bright in the Niemann-Pick community with positive advancement on the horizon.
I encourage you to join us at our Family Support & Medical Conference this summer. Often described by families as their most important event of the year, our conference is a chance to connect with one another, to share experiences, and to learn. We’ll have important clinical updates presented as well as educational sessions, with something for everyone. Our Activity Zone will once again be the highlight for our children and young adults, lovingly staffed by a volunteer squad, and filled with activities that keep everyone engaged and busy. We keep our costs as low as possible to assist families with attending our conference. Diagnosed individuals are always free of charge and our family member rates are less than the true costs of food and beverage provided however we know that attending a conference can still be a financial challenge. I encourage you to register early with our Early Bird rate, to apply for a Conference Scholarship, as well as applying to take part in our Family Advisory Working Groups.
Over the next few weeks, several NNPDF Community Update Series forums are being planned, keep your eyes out for dates and topics to be announced soon!
We end March heading into spring, a time of renewal. I send everyone best wishes to you and your families for this special time of year.
Kind regards,
Joslyn Crowe
NNPDF Executive Director
July 11-13, 2024
Salt Lake City Marriott City Center | Salt Lake City, Utah
We look forward to seeing you at our 32nd Annual NNPDF Family Support & Medical Conference! NNPDF has many exciting opportunities to connect with expert clinicians, researchers, and other Niemann-Pick families who share your journey. Be sure to watch NNPDF communications for important updates. Visit nnpdfconf.org for all conference information.
NNPDF Family Advisory Working Groups
Application Deadline April 15th
The National Niemann-Pick Disease Foundation, Inc. (NNPDF) will host Family Advisory Working Groups that will take place on on Thursday, July 11, 2024 prior to the start of our Family Support & Medical Conference at the Marriott City Center in Salt Lake City, UT. Family Advisory Working Groups will provide Industry partners the opportunity to connect privately with a group of 6-10 Niemann-Pick Type C or ASMD patients and/or immediate family members for a 3-hour session. This is an optional event and pre-registration is required.
Family Conference Scholarships
Application Deadline April 15th
Scholarship funding is available to help NNPDF families ease the cost of attending the 2024 NNPDF Family Support and Medical Conference in Salt lake City, Utah. Scholarship assistance is limited to immediate NNPDF U.S. family members of an individual with Niemann-Pick Disease.
Conference Registration
Register by April 30th
Discounted Registration Rate:
Register by April 30th to take advantage of discounted registration fees.
Family Registration Discounted Rate:
EARLY BIRD REGISTRATION ONLY – Register 2 adults and 2 children (age 17 and younger) at the early bird registration rate of $500 (adults $175 and children $75). Any additional children in your immediate family will be free of charge.
First Time Attendee Discount:
Enjoy a 10% discount off your registration! We’re happy to have you join us!
Accommodations
Reserve by June 24th
NNPDF group rate will be available until June 24th, 2024. NNPDF Group Rate is $159 ($184.15 including taxes) per night. The NNPDF hotel group rate is available three days before and three days after the conference, dependent on hotel availability.
NNPDF Cora Sterling Endurance Award
Application Deadline May 15th
Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community.
Joele Ruppert & Joseph Colton ASMD Scholarship
Application Deadline May 15th
NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship. This scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions.
Rare Disease Week on Capitol Hill
NNPDF was proud to have 3 of our community members attend Rare Disease Week on Capitol Hill in Washington, DC last month. Garland Alvey, Kelly Lee, and Christine Petty attended the weeklong event.
Rare Disease Week on Capitol Hill empowers and inspires hundreds of advocates each year. Rare Disease Legislative Advocates (RDLA), a program of the EveryLife Foundation for Rare Diseases, brings together hundreds of rare disease individuals, family members, caregivers, and advocates from across the country to make their voices heard by their Members of Congress. Participants are educated on policy proposals impacting the rare disease community and provide opportunities to advocate for policy changes directly to their Members of Congress.
Thank you to Garland, Kelly, and Christine for sharing your voice and advocating on behalf of our entire Niemann-Pick Community. Read their summary reports below.
Garland Alvey Summary Report
Kelly Lee Summary Report
Christine Petty Report
Volunteer Opportunities
Volunteers are essential to our Niemann-Pick community to support awareness and keep our family support organization moving forward. We are currently collecting resumes and letters of interest from those interested in volunteering their skills and time to assist with the NNPDF. All types of support are welcome!
- Board Members
- Committees
- Focus Groups
- Advocacy and Outreach
- Other specialized skills you may have!
If you are interested in becoming a NNPDF volunteer, please send letter of interest by MARCH 30th to [email protected] and we will follow up with you with the process for applying. Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do.
Supporting One Another. Supporting Our Community.
#RAREis Scholarship Application Open
Living with a #RareDisease? Have a dream to pursue your education? Perhaps a $5,000 scholarship would help. The #RAREis Scholarship Fund is now accepting applications for 2024!
The #RAREis Scholarship Fund is available for any rare disease patient who is age 17+ and has a U.S. residency. Applicants must be enrolled in an accredited course(s) for Fall 2024 Semester. Therefore, it is not degree specific!
If financial burden has held you back before, now is the time to pursue those dreams! Learn more.
Pfrieger's Digest
In this article Frank W. Pfrieger, PhD, (Niemann-Pick Selbsthiifegruppe – Germany) provides an overview of the latest advances in Niemann-Pick diseases based on recent scientific publications. Read Frank’s recent comprehensive literature review.
NPC & ASMD Newborn Screening Webinar Now Available
We’re happy you joined us for the NPC & ASMD Newborn Screening webinar. Thank you to Pam Andrews, Melissa Wasserstein, and Justin Hopkin for sharing their insights on the importance of the NPC & ASMD newborn screening program. View the recording.
Rare Disease Advisory Councils (RDAC)
NNPDF continues to support Rare Disease Advisory Council’s (RDAC) across the country. RDACs give rare disease community members a unified voice in state government and provide a valuable resource to elected officials on rare disease education and challenges. 27 states currently have RDACs. NNPDF has signed on to RDAC in the state of Mississippi. Read the letter and learn more about this issue.
ASMD Accelerate Now Enrolling All Forms of ASMD
Comprehensive Care Centers
NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!
If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].
NNPDF Regional Gathering Rescheduled
NNPDF’s regional gatherings are being rescheduled to fall 2024. More details to come!
NNPDF Store
Did you know our store has some great items to help raise awareness for Niemann-Pick Disease? Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options – available in T-Shirt or Hoodies. Personalization for your family is available. Be sure to check out our NNPDF apparel and logo items and send us your photos with your new gear! Allow 2 weeks for delivery. US only.
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Update from IntraBio:
IntraBio is pleased to announce that the U.S. Food and Drug Administration (FDA) has accepted its New Drug Application (NDA) for IB1001 for the treatment of Niemann-Pick disease Type C (NPC). The application has been granted Priority Review and was given a Prescription Drug User Fee Act (PDUFA) target action date of September 24th, 2024. Read the complete announcement.
Update from Azafaros:
Azafaros is pleased to announce the completion of its Phase 2 clinical trial RAINBOW study, evaluating nizubaglustat in GM2 and NPC patients. Read complete announcement.
Update from Zevra Therapeutics:
Zevra Therapeutics has shared an FDA update on the PDUFA action date for Arimoclomol as a treatment for Niemann-Pick type C. Read the complete announcement and the FDA update.
Fundraising
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.
THANK YOU to KayLa Miller who recently held a Facebook Fundraiser!
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!
Family Assistance & Support Program
The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.
The Assistance Fund
Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.
NNPDF Membership
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
Click here to update or enroll today!
For assistance contact Laurie at [email protected] or call 920-542-4038
Supporting one another. Supporting our community.
NPC & ASMD Newborn Screening Webinar Recording
Jill Beirl
March 4, 2024
Supporting one another. Supporting our community.
February 2024 Newsletter
Jill Beirl
Message from the Executive Director | Rare Disease Day | Community Update Series: NPC & ASMD Newborn Screening | Thanking Our Niemann-Pick Health Care Heroes | Volunteer Opportunities | Family Support & Medical Conference | Conference Accommodations | ASMD Scholarship | NNPDF Cora Sterling Endurance Award | ADVOCACY: FDA Review of NPC New Drug Applications | RESEARCH: New publication on Real-life impacts of olipudase alfa | NNPDF Store | Family Assistance & Support Program | Fundraising | ASMD Accelerate | Comprehensive Care Centers | Clinical Trial Updates | The Assistance Fund | NNPDF Membership
Message from our Executive Director
Dear Friends,
I recently learned that a group of zebras is called a dazzle. This really stood out to me. First, because the zebra is the symbol of rare disease. The origin of this came from medical students being told “When you hear hoofbeats behind you, don’t expect to see a zebra.” Essentially, they were told that doctors should consider common and usual diagnoses rather than rare or surprising ones. But as we know, sometimes when you hear hoofbeats, there really is a zebra behind you. And while we have work to continue to reduce the time it takes to receive a diagnosis for a rare disease like Niemann-Pick disease, we take today to remember that our families are not alone, and together the rare disease community is strong and mighty. Actually, together rare disease families DAZZLE.
Three Niemann-Pick community members are currently in Washington DC advocating and educating lawmakers as part of Rare Disease Week on Capitol Hill. NNPDF is proud to have supported their efforts in part with our Rare Disease Week on Capitol Hill Advocacy Scholarship and we look forward to the summaries they will share following the week’s events.
We are fortunate to have two new drug applications recently submitted to the FDA. Zevra Therapeutics’ application for arimoclomol was submitted in late December 2023 and has been assigned a response date of June 21, 2024. IntraBio’s application for N-acetyl-L-leucine (IB1001) was submitted in January 2024. The FDA has a 60-day filing review period to determine whether the NDA is complete and accepted for review.
As a national patient organization, we are championing all of the experimental therapies in our pipeline for successful regulatory approval to ensure that all Niemann-Pick individuals have treatment options. On behalf of the NPC community, NNPDF, in conjunction with our partner Niemann-Pick type C organizations, submitted a community response and support statement for the FDA’s review of arimoclomol earlier this month. Our intent was to ensure the FDA heard from families living with NPC and other care partners, clinicians, and community supporters. Thank you to all that signed this community response letter and shared your voice.
We are currently working on our letter of support for N-acetyl-L-leucine (IB1001) and will share an update with the NPC community in the coming weeks.
I’m also pleased to share that our collaborative research efforts with INPDR, INPDA, and Niemann-Pick UK have resulted in a new publication titled Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency. This study was shared with the US Food & Drug Administration (FDA) and will continue to be shared with other international regulatory agencies as we look towards the approval of olipudase alfa in countries around the world to fill the unmet need for treatment of ASMD.
Registration will open shortly for our Family Support & Medical Conference, taking place July 11-13th in Salt Lake City, UT. Our annual conference is the largest gathering of patients affected by Niemann-Pick disease in the US, plus their family members, and experts in health, research, and education. It’s a critical time of year for families to connect with one another, and to have fun! I hope to see everyone there. In the meantime… keep dazzling.
Kind regards,
Joslyn Crowe
NNPDF Executive Director
Rare Disease Day is February 29th!
Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
Rare Disease Day promotes raising awareness and generating change for the 300 million people worldwide living with a rare disease such as Niemann-Pick, their families and caregivers. YOU can show your support on Rare Disease Day by raising awareness of Niemann-Pick Disease and what it means to be rare. Learn more and get involved!
Community Update Series: NPC & ASMD Newborn Screening
Join us Monday, March 4th at 8:00 pm EST for a webinar on the NPC and ASMD Newborn Screening efforts. This webinar will share information on the importance of newborn screening and a brief history and update on the NPC & ASMD newborn screening programs.
Speakers include:
- Pam Andrews, Executive Director, Firefly Fund
- Melissa Wasserstein, MD, Professor, Department of Pediatrics Professor, Department of Genetics Chief, Division of Pediatric Genetic Medicine, Department of Pediatrics Montefiore Medical Center
- Justin Hopkin, MD, NNPDF Scientific Advisory Board
Thanking our Niemann-Pick Health Care Heroes
Clinical care team members play an important role in the lives of our Niemann-Pick families and are valued throughout our community. In recognition of Rare Disease Day NNPDF will mail Thank You cards to your Niemann-Pick Health Care Heroes to let them know they are very important to us. Health Care Heroes can include your primary care provider, genetic counselor, speech pathologist, physical or occupational therapist, gastroenterologist, respiratory therapist, home health care nurse, etc.
To participate, provide us with your Health Care Hero’s information at t.ly/ThankYou2024 by March 15th.
Volunteer Opportunities
Volunteers are essential to our Niemann-Pick community to support awareness and keep our family support organization moving forward. We are currently collecting resumes and letters of interest from those interested in volunteering their skills and time to assist with the NNPDF. All types of support are welcome!
- Board Members
- Committees
- Focus Groups
- Advocacy and Outreach
- Other specialized skills you may have!
If you are interested in becoming a NNPDF volunteer, please send letter of interest by MARCH 30th to [email protected] and we will follow up with you with the process for applying. Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do.
Supporting One Another. Supporting Our Community.
July 11-13, 2024
Salt Lake City Marriott City Center | Salt Lake City, Utah
We look forward to seeing you at our 32nd Annual NNPDF Family Support & Medical Conference! NNPDF has many exciting opportunities to connect with expert clinicians, researchers, and other Niemann-Pick families who share your journey. Be sure to watch NNPDF communications for important updates. Registration opening soon!
Accommodations
Reserve by June 1st
NNPDF group rate will be available until June 1st, 2024. NNPDF Group Rate is $159 ($184.15 including taxes) per night. The NNPDF hotel group rate is available three days before and three days after the conference, dependent on hotel availability.
Joele Ruppert & Joseph Colton ASMD Scholarship
Application Deadline May 15th
NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship. This scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions.
NNPDF Cora Sterling Endurance Award
Application Deadline May 15th
Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community.
ADVOCACY: FDA Review of NPC New Drug Applications
We are fortunate to have two new drug applications recently submitted to the FDA. Zevra Therapeutics’ application for arimoclomol was submitted in late December 2023 and has been assigned a response date of June 21, 2024. IntraBio’s application for N-acetyl-L-leucine (IB1001) was submitted in January 2024. The FDA has a 60-day filing review period to determine whether the NDA is complete and accepted for review.
As a national patient organization, we are championing all of the experimental therapies in our pipeline for successful regulatory approval to ensure that all Niemann-Pick diagnosed individuals have treatment options best suited to their needs.
On behalf of the NPC community, NNPDF submitted the arimoclomol community response and support statement to the FDA earlier this month. Our intent was to ensure the FDA heard from families living with NPC and other care partners, clinicians, and community supporters, since any decision FDA makes regarding arimoclomol will impact you and your loved ones. Thank you to all that signed on and shared your voice in support of arimoclomol for the treatment of NPC.
We are currently working on our letter of support for N-acetyl-L-leucine (IB1001) and will share an update with the NPC community in the coming weeks.
RESEARCH: New publication on Real-life impacts of olipudase alfa
NNPDF is pleased to share the results of our collaborative research efforts with INPDR, INPDA, and Niemann-Pick UK have resulted in a new publication titled Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency. This study has been shared with the US Food & Drug Administration (FDA) and with other international regulatory agencies as we look towards the approval of olipudase alfa in countries around the world to fill the unmet need for treatment of ASMD.
NNPDF Store
Did you know our store has some great items to help raise awareness for Niemann-Pick Disease? Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options – available in T-Shirt or Hoodies. Personalization for your family is available. Be sure to check out our NNPDF apparel and logo items and send us your photos with your new gear! Allow 2 weeks for delivery. US only.
Family Assistance & Support Program
The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.
Fundraising
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.
THANK YOU to Keith Mainhart and Kathy Swanson who recently held Facebook Fundraisers!
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!
ASMD Accelerate Now Enrolling All Forms of ASMD
Comprehensive Care Centers
NNPDF recently added Phoenix Children’s Hospital to our listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!
If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Updates from IntraBio:
IntraBio is pleased to share that The New England Journal of Medicine (NEJM) has published a “Science Behind the Study” Expert Perspective Editorial on N-acetyl-L-leucine (IB1001) for the treatment of various neurodegenerative disorders, including all neurodegenerative lysosomal storage diseases. Read the complete announcement and the published article.
IntraBio is pleased to share that The New England Journal of Medicine (NEJM) has published the detailed results of the IB1001-301 Phase 3, Pivotal study with N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease Type C (NPC). Read the complete announcement and the published article.
The Assistance Fund
Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.
NNPDF Membership
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
Click here to update or enroll today!
For assistance contact Laurie at [email protected] or call 920-542-4038
Supporting one another. Supporting our community.
January 2024 Newsletter
Jill Beirl
Thank You to our Supporters | Rare Disease Day | Bringing Holiday Cheer Update | Milestones | NNPDF Store | Family Assistance & Support Program | Fundraising | ASMD Accelerate | Family Conference Save the Date | Comprehensive Care Centers | Clinical Trial Updates | The Assistance Fund | NNPDF Membership
Thank You to all that generously supported the NNPDF with your financial gifts in 2023, through donations, family fundraisers, and social media fundraisers. It is through the generosity of donors that we are able to provide vital unmet services to patients and families along their Niemann-Pick journey. Your support matters for our Niemann-Pick families and every dollar makes an impact. We can’t do it without you! Your ongoing commitment to our organization is greatly appreciated.
Rare Disease Day is February 29th!
Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
Rare Disease Day promotes raising awareness and generating change for the 300 million people worldwide living with a rare disease such as Niemann-Pick, their families and caregivers. YOU can show your support on Rare Disease Day by raising awareness of Niemann-Pick Disease and what it means to be rare. Learn more and get involved!
Bringing Holiday Cheer Update
Thirty-seven NNPDF Community member families had help in making their holidays a little brighter. A heartfelt THANK YOU to our special anonymous donor. This special program aims to help ease the burden of holiday stress, while promoting family togetherness and enjoyment, by helping to bring some cheer to our Niemann-Pick families. NNPDF was able to assist with over 300 items for our families. Thank you again for providing much joy to our families.
Milestones
Congratulations to Alec Koujaian! Alec completed his 249th treatment and celebrated 10 years on Adrabetadex. Alec’s family feels blessed and remain hopeful for drug approval of Adrabetadex in 2024, along with the other NPC drugs looking for approval. Congratulations, Alec!
Abby Alvey is putting on her dancing shoes!! Abby is giving dance class another try after her lower leg botox and serial casting. She tried a little bit smaller of a class and she did amazing. Abby’s family is so proud that she never wants to give up. Thank you Central Virginia Dance Academy. Way to go Abby!
The Lazarus family celebrated 37 years with NPC warrior Daniel Lazarus on January 26th and wish for many more to come! Barb, Daniel’s Mom, expresses that every day is a gift, every year a blessing. Happy Birthday Daniel!!
Dee Reynolds recently celebrated the 36th anniversary of her 29th birthday… (do the math) by taking a cruise to the Caribbean! Happy Birthday Dee!
If you have a special Milestone you’d like to share with your Niemann-Pick community please send us a photo and the details to [email protected].
NNPDF Store
With Rare Disease Day right around the corner did you know our store has some great items to help raise awareness for Niemann-Pick Disease? Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options – available in T-Shirt or Hoodies. Personalization for your family is available.
Order today to get your gear by Rare Disease Day! Be sure to check out our NNPDF apparel and logo items and send us your photos with your new gear!
Allow 2 weeks for delivery. US only.
Family Assistance & Support Program
The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.
Fundraising
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.
THANK YOU to Ashley Reel and Elsa Angulo who recently held Facebook Fundraisers!
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!
ASMD Accelerate Now Enrolling All Forms of ASMD
Comprehensive Care Centers
NNPDF recently added Phoenix Children’s Hospital to our listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!
If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Update from IntraBio: IntraBio Inc. is pleased to share that the New Drug Application (NDA) for N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease type C (NPC) was submitted to the US Food and Drug Administration (FDA) in January 2024. Read the complete update.
Update from Zevra Therapeutics: Zevra Therapeutics has announced the U.S. Food and Drug Administration’s (FDA) acceptance of the resubmission of the New Drug Application (NDA) for arimoclomol for treatment of Niemann-Pick disease type C. Read the complete announcement and Zevra’s message to the Niemann-Pick community below. Read the complete announcement and the message to the community.
The Assistance Fund
Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.
NNPDF Membership
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
Click here to update or enroll today!
For assistance contact Laurie at [email protected] or call 920-542-4038
Supporting one another. Supporting our community.
December 2023 Newsletter
Jill Beirl
Message from our Executive Director | We Remember Them | Celebrating Milestones in 2023 | Fundraising | NNPDF Action Alert! Sign on letter for the FDA in support of Arimoclomol | Family Assistance & Support Program | NNPDF Store | ASMD Accelerate | Save the Date | Clinical Trial Updates | The Assistance Fund | Comprehensive Care Centers | NNPDF Membership
Message from our Executive Director
Dear NNPDF Community,
As we approach the end of another year, we welcome this opportunity to reflect on the many important advances we have made and to reaffirm our commitment to developing programs and advocating for the best support possible for all people impacted by Niemann-Pick disease.
Throughout 2023, NNPDF has steadfastly supported our community and ensured that all members have access to the resources they need. Through our Navigating Together and Community Connections series, we increased our focus on the importance of making connections and providing a safe space for different members of our community to share their experiences and seek support from others. On social media, we put a special emphasis on the many important members of our community including siblings and caregivers who make such a positive difference in the lives of people living with Niemann-Pick. We continued our work with leaders in government, industry, and advocacy to help raise broader awareness of the impact of Niemann-Pick disease and we expanded our research efforts to better understand issues related to insurance, disease burden, and challenges in access to care that can lead to new avenues of support for our community. And above all else, we continued to fight for access to new treatments and resources that can improve the lives of all people affected by Niemann-Pick disease. Heading into 2024, we will continue to expand our efforts and build on this great momentum.
The Niemann-Pick community is the epitome of the strength and determination of a small but mighty community. Diagnosed individuals, caregivers, families, healthcare leaders, researchers, donors, and industry partners all play an important role and we are grateful to all of you who have supported our efforts at NNPDF. As we look back, we feel confident that the positivity and perseverance of our community will help us reach even higher levels of change in the year to come. Despite the challenges we have faced, we continue to show the world that we are united, and that we will not stop until we reach a day where ALL people impacted by ALL types of Niemann-Pick disease have access to life-changing treatments and support.
Thank you again for your continued support. From all of us at NNPDF, have a safe and happy holiday.
Warm regards,
Joslyn Crowe
NNPDF Executive Director
We Remember Them
As a part of our Niemann-Pick community, please join the NNPDF in keeping all of our families in our thoughts now and throughout the year.
Celebrating Milestones in 2023
Navy Team Basketball is proud to welcome Caleb Woodard to the Navy Team Family! Caleb signed his Team IMPACT letter of intent and the N.T.F. is thrilled to have him join their team. Team IMPACT is a nonprofit that matches children facing serious illness and disability with college sports teams to create life-changing experiences. Congratulations, Caleb!
Linwood Lewis has celebrated many milestones so far this school year. Starting a new school, riding the bus, and attending his first Special Olympics! Even though Linwood wasn’t old enough to participate with most of the kids in the competition, the school that hosted the event prepared games and activities for the kids that were not old enough, including the grinch being arrested! Linwood’s PCP, Mrs. Davis, assists him all throughout the day and even rides the bus with him. Way to go Linwood!
Who’s that under the lights? It’s Allison Reiter! Allison has been keeping herself busy with not 1, but 2 on stage productions! She participated in Footloose at the Cultural Park Theatre and in Let’s Go to the Movies at the Belle theater in September. Way to go Allison!
Abby Alvey was honored with the Governor of Virginia declaring Feb 28th as rare disease day in the state of Virginia. His staff are in the photos giving us the Proclamation. She also helped host rare disease day in her school where all the classes K-5 had a morning lesson plan about rare disease. Way to go Abby!
Allison Reiter raised $2,000 and was the top fundraiser for Best Buddies Southwest Florida chapter. Allison also became the state ambassador of the program. Great job Allison!
If you have a special Milestone you’d like to share with your Niemann-Pick community please send us a photo and the details to [email protected].
Linwood is a kindergarten graduate and is off to the first grade! Linwood loved kindergarten and made so many friends this year! Linwood plans on spending his summer going to baseball games and hanging out with family and friends! Congratulations Linwood!!
Congratulations Tinley Apt who has been doing remarkable since starting enzyme replacement treatment for ASMD in August 2021. She was so excited to get to play soccer last summer and keeps busy and active with coloring, playing with friends and loves to swim in the summer. GO TINLEY!!
Congratulations to Evren Ayik! Evren was selected by Uplifting Athletes as a Broncos Country Hero of the Game at the Sunday, January 8th game between the Denver Broncos and the Los Angeles Chargers. Evren shares “One of the best experiences of my life! Thank you to the Uplifting Athletes and Denver Broncos for this very special and memorable experience!” Way to go Evren!! You can check out the video on Facebook.
Do you have a special milestone to share? Send us a photo along with the details to [email protected] and we’ll publish in an upcoming newsletter!
Fundraising
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!
THANK YOU to Attley Martin who hosted a craft sale and chose to send a portion of her proceeds to the NNPDF in honor of her very special aunt, Kelly Schoenecker. Pictured are Julie Martin, Annika Schoenecker, Kelly Schoenecker, Meggie Martin, and Attley Martin. And we LOVE the awareness shirts!!
THANK YOU to Thermo Fisher in raising over $16,000 for the National Niemann-Pick Disease Foundation! Thermo Fisher’s St. Louis site hosted its 2nd Annual Made For Patient Program Trivia Night. The Made For Patient Program, supported by the Pharma Services Group, is designed to support Thermo Fisher Scientific’s mission and connect employees with the amazing work they do for patients every day. With over 200 people in attendance, great fun and fundraising was had by all as the site honored the NNPDF. This year, the St. Louis Made For Program Team raised over $16,000, with their Thermo Fisher company match program, for the NNPDF. During the evening, there were many moments and bonus questions built around Niemann-Pick Disease.
The company’s Made For Patient Program focuses on creating awareness around the patients that receive the products that are manufactured throughout their biologics sites so that all employees have a greater sense of quality, understanding, and pride.
NNPDF Action Alert! Sign on letter for the FDA in support of Arimoclomol
NNPDF along with other advocacy organizations and leaders, including Ara Parseghian Medical Research Fund, Dana’s Angels Research Trust, Firefly Fund, Hide and Seek Foundation, Hope for Marian, and Support of Accelerated Research (SOAR), have engaged with both Zevra and FDA over the past years to ensure that they understood the significant unmet medical needs faced by those living with NPC, and to advocate for reasonable and appropriate flexible clinical trial and regulatory approaches for all drugs for this ultra-rare disease.
Arimoclomol, an experimental drug being developed by Zevra Therapeutics completed a Phase 2/3 clinical trial in 2019. The primary endpoint assessing benefit on the 5-domain NPC Clinical Severity Scale (NPCCSS) was met, forming the basis of a New Drug Application (NDA) submitted to FDA for review. FDA concerns with the NPCCSS scoring, statistical methods, and extent of confirmatory evidence led to a Complete Response Letter (CRL) being issued by FDA in 2021, denying approval of the drug.
Since the CRL, Zevra has been working diligently to develop the additional data, information, and analyses needed to address the issues raised in the CRL, including through meetings with FDA, to form the basis of a resubmission of the NDA. With Zevra’s plans to complete this resubmission in the coming weeks, it is important that our community’s voice is heard.
We are taking action and we need your support and input!
Learn more at
Family Assistance & Support Program
The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.
NNPDF Store
Our store is open and has some great items to help raise awareness for ASMD or NPC, and even personalize for your family. Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options and are available in T-Shirt or Hoodie options. Be sure to check out our NNPDF apparel and logo items! Send us your photos with your new gear!
Join ASMD Accelerate, Contribute to ASMD Research
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Update from Azafaros: Azafaros is pleased to announce its Phase 2 clinical trial RAINBOW study, evaluating nizubaglustat in GM2 and NPC patients, is now fully enrolled. While unfortunately there are no actively recruiting studies with nizubaglustat in the US at the moment, Azafaros is working to initiate phase 3 studies globally, including the US.
Please see Azarafos’ complete message for the Niemann-Pick community below.
Read complete announcement.
Read the message.
Update from Cyclo Therapeutics: Cyclo Therapeutics announces positive outcome from type C meeting with the U.S. FDA discussing Trappsol® Cyclo™ Clinical Program for the treatment of Niemann-Pick Disease type C1. Read complete announcement.
The Assistance Fund
Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.
Comprehensive Care Centers
NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!
If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].
NNPDF Membership
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
Click here to update or enroll today!
For assistance contact Laurie at [email protected] or call 920-542-4038
Supporting one another. Supporting our community.
November 2023 Newsletter
Jill Beirl
Message from our Executive Director | Celebrating National Family Caregivers Month | Advocacy | NNPDF In Action | Family Assistance & Support Program | ASMD Feedback Interview Opportunity | The Assistance Fund | NNPDF Store | ASMD Accelerate | Fundraising | Save the Date | Community News Update | Comprehensive Care Centers | NNPDF Membership
Message from our Executive Director
Dear Friends,
As we head into the holiday season, I am keenly aware that this can be a challenging time for some families. I hope our team at NNPDF can make the next few weeks a little easier for those in need of care and assistance by offering friendly voices of comfort, one-to-one support services, Community Connections informal group discussions, providing financial relief through our Family Assistance & Support Program, by helping with gifts for the holidays through our Bringing Holiday Cheer program, or through any of our programs, all of which are designed to support Niemann-Pick families.
After a challenging few years in our drug development space, it’s positive to see some of the experimental therapies in Niemann-Pick type C are looking towards submitting New Drug Applications to the FDA in coming weeks. We are working hand-in-hand with our pharmaceutical partners to ensure that we have the greatest chances of success and that we can soon change the course of this disease.
Now more than ever, NNPDF’s mission and focus on advocacy and family services is essential for the Niemann-Pick community. We will continue fighting hard and working to bring approved medicines to all Niemann-Pick families in the U.S. Our mission to support families at all stages of the Niemann-Pick journey is so greatly needed and delivers hope to so many.
We can’t do this without your support. Please consider a year-end donation to help our work and to show your care for Niemann-Pick families.
To learn more about NNPDF or to make a donation, visit nnpdf.org.
With best wishes,
Joslyn Crowe
NNPDF Executive Director
Celebrating National Family Caregivers Month
November is National Family Caregiver’s Month – an important opportunity to honor the incredible dedication and unwavering support of caregivers across the world. At the National Niemann-Pick Disease Foundation (NNPDF), we deeply value the crucial role that caregivers play in our community. We also recognize the importance of ensuring caregivers have access to resources that can help manage the emotional, physical, and financial challenges they experience.
This year’s theme, #CaregiversConnect, highlights the power of making connections throughout the caregiving journey. The challenges faced by caregivers in the Niemann-Pick community can be immense. Managing treatment plans, navigating a maze of healthcare systems, and coping with the emotional toll are just a few of the hurdles our caregivers confront daily. Having a network of support and making connections with other caregivers can help ease the burden of these challenges. Sharing experiences, insights, and emotional support with others who share a similar journey can provide a profound sense of comfort and solidarity. At NNPDF, we work hard to provide opportunities for caregivers to connect including through our online Community Connections support groups and our Annual Family & Medical Conference where caregivers can meet, attend sessions catered to their needs and interests, and make lasting friendships. Read the complete blog post.
Advocacy
Taylor Sabky, NNPDF Board of Directors had the opportunity to testify at the State House in Massachusetts in support of H.2236/S.1366, an act to improve newborn screening tests. Taylor shared her son Purnell’s journey with ASMD and the impact that early awareness of the disease through newborn screening would have had on their lives. Taylor was joined by some guests of honor — her students — who showed their support and were able to take the opportunity to witness the intersection of public health, law, and advocacy.
NNPDF In Action
Laurie Turner, NNPDF Family Services Manager, attended the C-Path Scientific Breakthrough Summit in Washington DC where she was a featured speaker on the panel discussion Conducting gene therapy clinical trials in neonatal and early pediatric age including newborn screening. The summit featured presentations and panel discussions with C-Path collaborators from industry, academia, regulatory agencies, nurses, parents, and patients.
Joslyn Crowe, NNPDF Executive Director, presented at the Orphan Drugs & Rare Diseases Congress in Boston where she gave a presentation on The Impact of Rare Disease on Siblings. Joslyn was also a featured speaker on the Keynote Panel Discussion: The Importance of Patient Networks and Advocacy Groups in Designing of Clinical Trials and Patient Recruitment. This congress provided a comprehensive overview of the critical issues shaping the future of Orphan Drugs and Rare Diseases.
Thank you to Thermo Fisher Scientific – St. Louis Biologics for hosting the “Made For” Patient Program Trivia Night fundraiser. Monies raised at the Disney themed event are to benefit the National Niemann-Pick Disease Foundation to help support our community. Jill Beirl, NNPDF Communications and Marketing Coordinator was a featured speaker on NNPDF’s role in supporting Niemann-Pick families.
International Niemann-Pick Disease Alliance colleagues joined together at the INPDA Biennial Face-to-Face Meeting in Tarragona, Spain. This meeting brings together representatives of the INPDA global associations to offer the opportunity to address advances in research and share experiences with the aim of enhancing knowledge and awareness regarding all aspects of Niemann-Pick disease.
Harry Koujaian, INPDR Ambassador, Pam Andrews, Firefly Fund, Joslyn Crowe, NNPDF Executive Director and INPDA Vice President, and Gail Koujaian, NNPDF Representative and Board of Directors
INPDA and Fundación Niemann-Pick de España leadership
INPDA 2024 Executive Committee: Sarah Janette, Executive Communications Officer, Joslyn Crowe, Vice President, Sandy Cowie, President, Toni Mathieson, Executive Secretary
Family Assistance & Support Program
The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.
ASMD Feedback Interview Opportunity
Share Your Experiences with ASMD/Niemann-Pick Disease
Pinpoint Patient Recruiting, a market research recruitment company, is searching for people who have been diagnosed with Acid Sphingomyelinase Deficiency (ASMD) (also known as Niemann-Pick) as well as their caregivers, to participate in a 60-minute online interview about their experiences. The information gathered in these interviews will be used to improve the diagnosis and treatment experiences for others living with ASMD/Niemann-Pick.
If you or someone you care for has been diagnosed with ASMD, you may be eligible to participate. Anyone who qualifies for and completes the virtual interview will receive $125 as a thank you. All participants must be ages 18 or older and live in the US. All responses will remain confidential.
Interested?
To see if you qualify for the study or to get more information, please visit pinpointpatientrecruiting.com/asmd or contact Julie Knell at [email protected].
The Assistance Fund
Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.
NNPDF Store
Our store is open and has some great items to help raise awareness for ASMD or NPC, and even personalize for your family. Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options and are available in T-Shirt or Hoodie options. Be sure to check out our NNPDF apparel and logo items! Send us your photos with your new gear!
Join ASMD Accelerate, Contribute to ASMD Research
Fundraising
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.
THANK YOU to Mandy Baxter, Jennifer Lynn Johnson, Liz Heinze and Shericka Jackson who recently held Facebook Fundraisers!
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!
Community News Update
The NNPDF shares important news and highlights relevant to our Niemann-Pick community as soon as it is received. Visit our Community News web page under the resources tab for up to date information.
Update from Zevra Therapeutics:
Zevra announces the completion of its acquisition of Acer Therapeutics. Zevra states they are committed to the arimoclomol expanded access program as a much-needed treatment of NPC, and their goal is to resubmit the arimoclomol New Drug Application (NDA) to the FDA by the end of 2023. Read the complete announcement.
Please contact Joslyn Crowe, NNPDF Executive Director, with any questions.
Comprehensive Care Centers
NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!
If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].
NNPDF Membership
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
Click here to update or enroll today!
For assistance contact Laurie at [email protected] or call 920-542-4038
Supporting one another. Supporting our community.
Honoring Niemann-Pick Caregivers during National Family Caregiver’s Month
Jill Beirl
Joslyn Crowe, NNPDF Executive Director
November is National Family Caregiver’s Month – an important opportunity to honor the incredible dedication and unwavering support of caregivers across the world. At the National Niemann-Pick Disease Foundation (NNPDF), we deeply value the crucial role that caregivers play in our community. We also recognize the importance of ensuring caregivers have access to resources that can help manage the emotional, physical, and financial challenges they experience.
This year’s theme, #CaregiversConnect, highlights the power of making connections throughout the caregiving journey. The challenges faced by caregivers in the Niemann-Pick community can be immense. Managing treatment plans, navigating a maze of healthcare systems, and coping with the emotional toll are just a few of the hurdles our caregivers confront daily. Having a network of support and making connections with other caregivers can help ease the burden of these challenges. Sharing experiences, insights, and emotional support with others who share a similar journey can provide a profound sense of comfort and solidarity. At NNPDF, we work hard to provide opportunities for caregivers to connect including through our online Community Connections support groups and our Annual Family & Medical Conference where caregivers can meet, attend sessions catered to their needs and interests, and make lasting friendships.
Find your tribe. Be it that one person, group of people, within the NPC community, within your local community, in your personal friendship circle, or wherever. But find those people who can be there to listen, to vent to, to share stories with, to cry or laugh with, and to find encouragement from. They are the ones who will pull you through when you feel like there is no way forward. – Barb Lazarus, NPC caregiver
This month also represents an opportunity to highlight the importance of personal health. Amidst their dedication to their loved ones, caregivers often overlook their own well-being. However, it’s essential to prioritize self-care. Taking moments for yourself is not selfish—it’s a necessity. Whether it’s finding time for relaxation, engaging in hobbies, or seeking support from others, caregivers must recognize the importance of their own mental and physical health. When our caregivers prioritize self-care, they become better equipped to provide the best possible care for their loved ones.
My advice to other caregivers would be to reach out to others, just talk. Ask for help when you need it. If you aren’t healthy, you can’t take care of your loved one. – Dan Reynolds, NPC caregiver
During National Family Caregivers Month, we invite the community to join us in recognizing and expressing gratitude for the remarkable dedication of caregivers who support people impacted by Niemann-Pick disease every day. To all the caregivers, your unwavering dedication is awe-inspiring. Your resilience is commendable. Your love and care are invaluable. Taking care of yourself is just as crucial as caring for your loved ones. Remember, you are not alone—reach out, connect, and prioritize your well-being. Together, let us continue to support and uplift each other in this journey. Thank you for being the unsung heroes of the Niemann-Pick Disease community. Your selfless dedication inspires us all.
For more information and support, please visit nnpdf.org/family-support/ or reach out to us at [email protected].