November 2024 Newsletter

Newsletters

A Message to the Community

As we conclude November, a month dedicated to gratitude, we extend our heartfelt thanks to all our NNPDF families and members. Your unwavering dedication to raising awareness and supporting our community is truly remarkable. By working together, we continue to strengthen the network that promotes growth and hope in ASMD and NPC. Let’s celebrate the positive impact we are making together!

As we celebrate this season of gratitude, we also want to highlight the incredible milestones that have touched your families recently. Please consider submitting milestone moments and family photos so we can showcase the special moments you have been a part of, please email family photos and milestones to [email protected].

Be assured that NNPDF is available to support your family during their journey with ASMD and NPC. We can provide objective information on available treatments, help find local resources, and provide access to medical specialists or some days, just be the voice on the other end of the phone. We are here to help you – please let us know how we can best support your family.

Thank you for sharing your family with us,

Liz Heinze, Board Chair
[email protected]

Laurie Turner, Family Services Manager
[email protected]

Now Available: Soaring Together

NNPDF is excited to share Soaring Together, written by Jillian Arnold. This book is inspired by the beautiful and unique journey the Arnold family has been on with their two brave kids, Roman and Stella, who are battling ASMD Type A/B.

Soaring Together: A Butterfly Family’s Story of Discovery, Love, and Resilience follows Roman and Stella, two butterfly siblings eager to explore the world. When they emerge from their chrysalises, they find themselves unable to fly. Disheartened, their parents lovingly reassured them that their differences don’t limit their ability to experience life’s wonders.

Congratulations to Jillian! Thank you for sharing your journey with us and spreading awareness for the rare disease community. Soaring Together is available on Amazon.

Be sure to check out our Family Resources webpage where you’ll find other Books & Publications dedicated to members of our Niemann-Pick community who have expressed themselves in books or other publications.

International Niemann-Pick Disease Registry

Justin Hopkin shares the importance of the International Niemann-Pick Disease Registry in this video. The registry serves as an essential resource designed to assist researchers, healthcare professionals, and everyone impacted by Niemann-Pick diseases. Each individual voice and story contributes to the power of this initiative and is particularly important as there is a real need for disease-specific information to support diagnosis, improve clinical care, and advance research.

If you have not yet registered or updated your information with the International Niemann-Pick Disease Registry we encourage you to do so. Visit inpdr.org to learn how you can join.

Celebrating #GivingTuesday

On Tuesday, December 3rd, the National Niemann-Pick Disease Foundation will take part in #GivingTuesday, a day recognized across the nation for its spirit of giving. Your contribution can make a significant impact on families affected by Niemann-Pick Disease by enhancing the essential program services that NNPDF provides to our community. Please consider a gift on #GivingTuesday.

Supporting One Another. Supporting Our Community.

Milestones

Do you have a special milestone to share with our Niemann-Pick Community? Please consider submitting milestone moments and family photos so we can showcase the special moments you have been a part of.

Send a photo along with the details to [email protected] and we’ll publish it in future communications!!

The Assistance Fund

2025 reenrollment is now open. If you are you currently receiving financial assistance through The Assistance Fund’s ASMD financial assistance program, please be aware of key dates and TAF’s reenrollment process so you are prepared to submit a reenrollment application for 2025 TAF assistance. Find complete details.

NNPDF Store - Order Now for the Holidays!

Now is a great time to get your Niemann-Pick Awareness apparel, NNPDF Logo apparel and NNPDF logo products shipped directly to your door! Order today and support your Niemann-Pick community! Store ships to U.S. residents only.

NIEMANN-PICK AWARENESS APPAREL is available! 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 available. Send us your photos with your new gear!

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 Janet Jacobs and Patricia McClees who recently held a fundraiser to help support NNPDF’s mission!

If you’ve 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!

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at [email protected] for any questions.

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.

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. 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].

ASMD Accelerate

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.

Update or enroll today!

For assistance contact Laurie at [email protected] or call 920-542-4038.

            

Supporting one another. Supporting our community.

October 2024 Newsletter

Newsletters

Message from the Family Services Manager

As we wrap up Niemann-Pick Awareness Month, I’m thankful for all the connections I’ve been able to make through our weekly Community Chats, supporting families in accessing treatments, and the joy shared at our Family Events in Fort Lee, New Jersey and Chicago, Illinois.

November and December bring one of my favorite Family Services Programs and I am happy to share the launch of the 5th annual Bringing Holiday Cheer program to spread even more smiles this year! Thank you for allowing me to be a part of your Niemann-Pick journey. Being together helps provide renewed energy and allows us to help one another. I hope to connect with you in the upcoming Community Chats held throughout the winter months.

The NNPDF Executive Director hiring committee is diligently reviewing resumes and will start to interview possible candidates in the coming weeks. We appreciate their time and effort in finding the right candidate for NNPDF. Please remember, our board and staff are available should you need anything:

Be sure to Save the Date for July 10-13, 2025 for the Family Support & Medical Conference in Charlotte, NC. New in 2025 we will be extending the conference to Sunday morning to allow for more time to be together and learn.

A Special Note to our NPC Families:  We understand there have been a lot of changes in the landscape for our NPC families with two recently approved treatments. Please know NNPDF is here for you as a trusted resource. We strive to provide accurate and unbiased information, which you can take back to your medical team as you explore treatment options. Please reach out if you have any questions, concerns, or if you have any helpful hints that we can share with other families.

We encourage you to take a moment to enjoy and appreciate the upcoming seasons.

Warm Regards,

NNPDF Family Services Manager

Niemann-Pick Awareness Month

Thank you to all who participated in Niemann-Pick Awareness Month! With your help in sharing our posts, hosting fundraisers, and advocating on behalf of our Niemann-Pick community we were able to spread awareness of Niemann-Pick disease far and wide. Our efforts will carry on as we continue to make a difference for families at all stages of the Niemann-Pick journey and help us deliver hope!

Bringing Holiday Cheer

NNPDF is excited to share the 5th Annual Bringing Holiday Cheer Program, started in 2020 by an anonymous donor who simply wanted to help make the holidays a little brighter for those in need! We are committed to making the holiday season less stressful and more enjoyable for families while promoting family togetherness and enjoyment. NNPDF would like to extend a special thank you to everyone who continues to make the Bringing Holiday Cheer program possible.

NNPDF members residing in the U.S. are eligible to submit an application for funding for the Bringing Holiday Cheer Program.  If you have any questions or need application assistance, please contact Laurie Turner, Family Services Manager at [email protected] or call 920-542-4038.

Application deadline is Friday, November 15th

NNPDF Family Events

Thank you to all those that joined us for our Family Events in Chicago, Illinois and Fort Lee, New Jersey! Both events were a fantastic time to connect and share with others in the Niemann-Pick community. These events offered the opportunity to learn about NNPDF programs and have the chance to connect with resources, local healthcare providers, and industry professionals. Check out the event photos!

We’re excited about the upcoming events we’ll be hosting in 2025! If you’d like to suggest a location for an NNPDF Family Event near you, please get in touch with Laurie at [email protected].

NNPDF Executive Director Search

The NNPDF is seeking an experienced and passionate leader to serve as its next Executive Director and guide the community through this new post-approval landscape of commercially available treatments. This is a unique opportunity to lead a small, capable, and dedicated team that is making a meaningful difference for individuals and families affected by Niemann-Pick disease. See the full job description for more details on this exciting role.

International Niemann-Pick Disease Registry

If you have not yet registered or updated your information with the International Niemann-Pick Disease Registry we encourage you to do so. The registry serves as an essential resource designed to assist researchers, healthcare professionals, and everyone impacted by Niemann-Pick diseases. Each individual voice and story contributes to the power of this initiative.

Having an international registry for Niemann-Pick diseases is particularly important as there is a real need for disease-specific information to support diagnosis, improve clinical care, and advance research. Learn more.

NNPDF In Action

Justin Hopkin (NNPDF Scientific Advisory Board) and Kari Lato (NNPDF Board of Directors) attended the 2024 NORD Rare Diseases and Orphan Products Breakthrough Summit. Justin and Kari joined over 900 patient leaders, researchers and scientists, healthcare advocates, pharma and biotech innovators, government agencies, and others to tackle the most pressing issues facing the rare disease community.

The Reagan-Udall Foundation for the FDA, in collaboration with FDA’s Rare Disease Innovation Hub, hosted a public meeting on October 16, 2024. NNPDF was fortunate to have members of the NNPDF Scientific Advisory Board, Board of Directors, and staff be able attend both virtually and in person. The meeting brought together rare disease patient advocates, academic researchers, regulated industry, and other key stakeholders to discuss how the recently announced Rare Disease Innovation Hub can best engage with members of the rare disease community and prioritize its work. Click here for more information.

NNPDF Store - Order Now for the Holidays!

Now is a great time to get your Niemann-Pick Awareness apparel, NNPDF Logo apparel and NNPDF logo products shipped directly to your door! Order today and support your Niemann-Pick community! Store ships to U.S. residents only.

NIEMANN-PICK AWARENESS APPAREL is available! 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 available. Send us your photos with your new gear!

The Assistance Fund

If you are you currently receiving financial assistance through The Assistance Fund’s ASMD financial assistance program, please be aware of key dates and TAF’s reenrollment process so you are prepared to submit a reenrollment application for 2025 TAF assistance. Find complete details.

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 Anne OConnor-Smith, Lori Wells, Dawn Stites, and Becky McGuire who recently held a fundraiser to help support NNPDF’s mission!

If you’ve 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!

Milestones

Do you have a special milestone to share with our Niemann-Pick Community?  We’d love to include yours! Send a photo along with the details to [email protected] and we’ll publish it in future communications!!

Supporting One Another. Supporting Our Community.

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at [email protected] for any questions.

Community News Update

NNPDF shares news and information regarding our community as soon as it is received. Visit our Community News web page for up to date information.

Update from Mandos Health:
Mandos Health has shared the following October 2024 update with the NNPDF community. Read the complete update.

Clinical Trial Update

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.

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.

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].

ASMD Accelerate

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.

September 2024 Newsletter

Newsletters

NNPDF Message to the Community

September 2024 will be a month to remember – the month that we can now say we have approved treatment options for Niemann-Pick type C! Our community celebrates the approval of not one, but two treatments approved by the US FDA in the span of four days. NNPDF is thankful for the dedication to innovative research, the tireless efforts of our industry partners and most importantly to you, our families. Learn more about AQNEURSA and MIPLYFFA.

Special thanks to the patients and families who participated in clinical trials and expanded access programs. Additional thanks to those who spoke at the Zevra Advisory Committee meeting and all who submitted written testimony. We would also like to thank NNPDF Board Chair, Liz Heinze for her participation as the patient advocate for the Genetic Metabolic Diseases Advisory Committee (GeMDAC) meeting.

Day-to-day operations at the foundation are smooth and steady. NNPDF has created a hiring committee (comprised of board members) that are working on the search for a new NNPDF Executive Director. Please remember, our board and staff are available should you need anything:

We hope your family will be able to attend one of the upcoming NNPDF Family Events. Family Events were created to help make it easier for families to come together as we recognize traveling to the annual conference is not always possible for a variety of reasons. We are looking forward to hosting more family events in 2025 and would love to hear what cities you think we should go to!

Be sure to Save the Date for July 10-13, 2025 for the Family Support & Medical Conference in Charlotte, NC. New in 2025 we will be extending the conference into Sunday morning to allow for more time to be together and learn.

October is Niemann-Pick Awareness Month! Learn how to get involved! Show your support of our Niemann-Pick community by raising awareness and educating others about Niemann-Pick Disease. With your help in spreading awareness, we will make a difference for families at all stages of the Niemann-Pick journey! We would love to see your photos, share your activities, and celebrate milestones! Send them to [email protected].

We hope you take some time to enjoy and appreciate the upcoming changing seasons.

Warm Regards,
NNPDF Board of Directors and Staff

NNPDF Community Update Series

Join us for our Community Update Series featuring IntraBio on September 30, 2024 at 8:00 pm ET.

Preregistration is required at t.ly/NNPDF-Webinar-IntraBio

Community Connection Opportunities

Connect with other NNPDF Families during Niemann-Pick Awareness Month! NNPDF will be hosting several opportunities for gathering and connecting virtually beginning October 1st! We look forward to sharing time together, to take a break and reconnect with other Niemann-Pick community members. Be sure to check out our calendar of events and register in advance.

NNPDF Family Events

Join us for a day to gather, learn, connect, and share with others in the Niemann-Pick community. These events serve as a platform for Niemann-Pick families to connect with others in their region. They offer educational sessions on Niemann-Pick Diseases, the opportunity to learn about NNPDF programs and support services, and have the chance to connect with resources, local healthcare providers, and industry professionals. Learn more about Family Events!

Message from Liz Heinze

On August 2, 2024 I was granted the opportunity to represent the patients and families of our Niemann-Pick type C community in a rare and meaningful way by being selected as the patient advocate for the Genetic Metabolic Diseases Advisory Committee meeting (GeMDAC). As the Patient Advocate for this committee, I was honored to represent the best interests of our patients and their families. I am dedicated to ensuring that the voices of those affected by illness are heard and that their needs are at the forefront of decision-making processes. Importantly, I bring a perspective that is unbiased by any specific drug or pharmaceutical company, as my family is not currently seeking treatment. This impartiality allows me to advocate more effectively for the most appropriate and beneficial treatments available, focusing solely on what is best for our community.

My commitment to this role stems from a deep desire to support and improve the quality of care for our patients. By prioritizing patient-centered perspectives and transparent advocacy, we can work together to enhance treatment options and address the unique challenges faced by those navigating their health journeys. I am dedicated to being a strong voice for our community and to driving positive change in the field of patient care. I look forward to future opportunities, supporting Niemann-Pick families and advocating to help make their journey just a little bit easier.

Kind Regards,
Liz Heinze

October is Niemann-Pick Awareness Month

Show your support of our Niemann-Pick community by raising awareness and educating others about Niemann-Pick Disease. With your help in spreading awareness, we will make a difference for families at all stages of the Niemann-Pick journey!

Use one of our awareness templates to share a photo, name, or message to help promote Niemann-Pick awareness. Download and add our ASMD or NPC Niemann-Pick awareness badges to your social profiles!

Learn more on how to get involved!

         

NNPDF Gear and Awareness Apparel

Now is a great time to get your Niemann-Pick Awareness apparel, NNPDF Logo apparel and NNPDF logo products shipped directly to your door! Order today and support your Niemann-Pick community! Store ships to U.S. residents only.

NIEMANN-PICK AWARENESS APPAREL is available! 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 available. Send us your photos with your new gear!

NNPDF In Action

Laurie Turner, Family Services Manager recently attended Critical Path Institute’s (C-Path) inaugural Global Impact Conference Charts the Future of Drug Development. Laurie represented NNPDF along with more than 300 industry leaders, regulatory agencies, academic experts, and patient advocacy groups, all dedicated to advancing drug development and regulatory science for rare diseases.

C-Path CEO Klaus Romero, MD, MS, FCP shared opening remarks outlining the importance of the conference and its pivotal role in shaping the future of healthcare through impactful collaboration. The inaugural day, themed ‘Innovative Methods and Approaches,’ set the tone for a series of discussions and workshops dedicated to exploring new frontiers in medical research and drug development.

  

PHOTO LEFT:  Conan Donnelly, INPDR, Sandy Cowie, INPDA, and NNPDF Family Services Manager, Laurie Turner
PHOTO RIGHT:  Krista Casazza, Scientific Director, Pediatrics, CPLD, Critical Path Institute and NNPDF Family Services Manager, Laurie Turner

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at [email protected] for any questions.

Rare & Ready EPICrd Webinar

Join Rare & Ready on October 1st at 12:00 pm for an insightful webinar focused on EPICrd (Ensuring Parity through Individualized Care for Rare Disorders) Act, a comprehensive legislative approach to ensuring coverage parity for patients with rare genetic conditions in accessing specialists, medicines, and other necessary items and services within Medicaid.

Learn more at t.ly/EPICrdINFO
Reserve your spot for this important webinar at bit.ly/EPICrd.

Clinical Trial Update

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:
U.S. FDA approves AQNEURSA™ (IB1001) for the Treatment of NPC
IntraBio is pleased to share the U.S. Food and Drug Administration (FDA) has approved AQNEURSA™ for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adults and pediatric patients weighing ≥15 kg. Read IntraBio’s letter to the community and press release, and the FDA press release.

Update from Zevra Therapeutics:
U.S. FDA approves MIPLYFFA™ (arimoclomol) for the Treatment of NPC
Zevra Therapeutics is pleased to share the U.S. Food and Drug Administration (FDA) has approved MIPLYFFA™, for use in combination with miglustat for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adult and pediatric patients 2 years of age and older. MIPLYFFA™ is the first therapy indicated specifically for the treatment of NPC, and is currently the only approved treatment for this disease. Read Zevra’s letter to the community and press release, and the FDA press release.

Community News Update

NNPDF shares news and information regarding our community as soon as it is received. Visit our Community News web page for up to date information.

Update from Mandos Health:
Mandos Health has shared the following September 2024 update with the NNPDF community. Read the complete 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 Patricia Lawson, BrekKe Ell, and Krissy Florkiewicz 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.

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].

ASMD Accelerate

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.

Summer 2024 Newsletter

Newsletters

A Final Message from our Executive Director

Dear Friends,

As we near the end of an incredibly busy summer for our ASMD and NPC communities, I write to you to share the news that after a great deal of thought and consideration, I will end my tenure as NNPDF’s Executive Director on August 30th to pursue a growth opportunity. The past six years at NNPDF have been incredibly rewarding to see both the organization and the wider Niemann-Pick communities build and thrive successfully. I end my term confident that I am leaving the Foundation in a better and more sustainable place than when I began.

All programs and day-to-day activities will continue to be run seamlessly by our incredible NNPDF Board and Staff. Our Executive Committee will manage a smooth transition. Key contacts are:

Liz Heinze, Board Chair:  [email protected]
Becky McGuire, Vice Chair:  [email protected]
Laurie Turner, Family Services Manager:  [email protected]
Jill Beirl, Communications Manager:  [email protected]
General questions and inquiries:  [email protected]

It has been a privilege to be accepted as a part of the Niemann-Pick community. Thank you for sharing your personal stories with me and for your friendship. Thank you for lending your voices when needed and for being wonderful partners in advocacy. I have been fortunate to be part of the important work we have done to raise awareness of Niemann-Pick disease, to generate valuable research into the impact of Niemann-Pick on patients and caregivers, and of course to deliver vital family services throughout the US to help fill the many unmet needs our families face. Together we have brought investigational therapies through the pipeline, including our first-and-only approval for ASMD. We now are at the precipice of approvals for our NPC community, with several other investigational therapies advancing in our pipeline.

It is an exciting time for the Niemann-Pick community, filled with hope. I am confident the Foundation and the entire community will continue to thrive under NNPDF’s excellent leadership. Thank you for your trust in me over the past six years.

With best wishes,


Joslyn Crowe
NNPDF Executive Director

NNPDF Family Support & Medical Conference Recap

Thank you for attending the 2024 NNPDF Family Support & Medical Conference! We hope you found the weekend meaningful and impactful, with new connections made.

We would like to extend a sincere THANK YOU to all of our volunteers, sponsors, and community partners for making our conference a wonderful event for our Niemann-Pick families and community members! It was fantastic to see many of you in support of one another.

Visit nnpdf.org/conferences/#2024fc for recordings and photos that are now available! If you have any questions or comments you’d like to share with us, please contact us at [email protected]. We look forward to seeing you again in Charlotte, North Carolina in 2025!

NNPDF Community Update Series

Join us for Community Update Series featuring:

Zevra Therapeutics
September 23, 2024 at 8:00 pm ET
Preregistration is required at t.ly/NNPDF-Webinar-Zevra

IntraBio
September 30, 2024 at 8:00 pm ET
Preregistration is required at t.ly/NNPDF-Webinar-IntraBio

NNPDF is happy to introduce our upcoming Family Events!

We hope your family will join us for a day to gather, learn, connect, and share with others in the Niemann-Pick community. These events serve as a platform for Niemann-Pick families to connect with others in their region. They offer educational sessions on Niemann-Pick Diseases, the opportunity to learn about NNPDF programs and support services, and have the chance to connect with resources, local healthcare providers, and industry professionals. Learn more about Family Events!

  • CHICAGO, ILLINOIS
    September 28, 2024 | 10:00 am – 4:00 pm CT
    DoubleTree by Hilton Hotel Chicago O’Hare Airport – Rosemont
    5460 N River Road, Rosemont, IL 60018
    Learn more and register by September 22nd
     
  • FORT LEE, NEW JERSEY
    October 26, 2024 | 10:00 am – 4:00 pm ET
    DoubleTree by Hilton Hotel Fort Lee – George Washington Bridge
    2117 Route 4 East, Fort Lee, NJ 07024
    Learn more and register by October 18th

NNPDF 2024 Board of Directors

We are honored to present your 2024 NNPDF Board of Directors. NNPDF Board members generously volunteer their time and energy to keep your family support organization moving forward and are essential in the progress of Niemann-Pick Disease awareness. Thank you to each of you for serving in these vitally important roles.

FRONT ROW: Kari Lato, Meghann Ferguson, Kelly Lee, and Taylor Sabky (Secretary).  BACK ROW: Mike Smith (Treasurer), Paul Merrigan, Becky McGuire (Vice Chair), Gail Koujaian, Dawn Stites, Liz Heinze (Chair), Anthony Leoni, Travis Obermeyer, and Garland Alvey.  Absent from photo: Cara Gilmore and Mary Francis Harmon.

NNPDF Welcomes New Board Members

We are proud to welcome the following incoming Board Members to the NNPDF team: Garland Alvey, Kelly Lee, and Dawn Stites. Learn more about them.

Dawn Stites 2024 SQR

Garland Alvey
Father of Abby, NPC

Kelly Lee
Mother of Gracie, NPC

Dawn Stites
Mother of Cole, NPC

NNPDF Scientific Advisory Board

Thank you to our Scientific Advisory Board members who so generously offer their time and expertise to the NNPDF on a volunteer basis. NNPDF’s Scientific Advisory Board plays a vital role that focuses on advising NNPDF leadership with the research, clinical, and regulatory leadership necessary to fulfill its role in the community. Learn more.


FRONT ROW: Sherman Garver, PhD, Walla Al-Hertani, MD, MS, Caroline Hastings, MD, and Justin Hopkin, MD.  BACK ROW: Melissa Wasserstein, MD, Marc Patterson, MD, Joshua Baker, DO, Steve Sturley, PhD, Andy Lieberman, MD, PhD, Denny Porter, MD, PhD, and Ed Schuchman, PhD.

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.

NPC Brain Imaging Research Study

NNPDF has been asked to share information regarding a Niemann-Pick Type C Brain Imaging Research Study at Boston Children’s Hospital under the research group of the Division of Genetics and Genomics, Department of Medicine, & Department of Anesthesiology, Critical Care and Pain Management. Learn more.

Rare & Ready: A Genetic Coalition

What is the Rare & Ready Coalition? Rare & Ready: A Genetic Coalition are advocates who push for state policies that mitigate Medicaid program hurdles to ensure that patients with rare and genetic conditions get access to the care they need. Whether you are a patient, caregiver, healthcare provider or member of a patient advocacy group, your voice matters. Learn more.

Milestones

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].

Liam and his brothers joined the Scouts this year. As they joined the program late, they had only 6 weeks to earn 6 mandatory and 2 elective badges to make rank. Liam’s hard work and determination quickly earned a total of 12 badges in a short period of time, successfully advancing him from Bear to Weeblo rank. Way to go Liam! His brothers also earned their badges and moved from Tigers to Bears.

Congratulations Cole!! Cole was thrilled to have the opportunity to throw out the ceremonial first pitch at the Tampa Bay Ray’s game, to attend sleep away camp, and to hang out with his sister at the conference. Way to go Cole!!

 

Caleb started Xenpozyme in April of 2023. Since then, he has been much healthier, has grown a little taller, gained about 25-30 pounds, and has a better outlook on where the rest of his life will go!!! He NO LONGER has an expiration date looming over his head like the Doctor’s said!!! Fantastic news Caleb!!

Clara has been working so hard in Physical and Occupational Therapy. She was able to attend a “Summer Intensive” two-week session with them and worked so hard! Great job Clara!

 

Connor lettered 3 times in adaptive sports this school year and was named Minnesota State High School League All-Conference honorable mention for both soccer and softball. Go Mustangs! He was also awarded most improved as voted by his peers for orchestra. Congratulations Connor!

   


Anne
competed in the Havana, Cuba Olympic Triathlon in February and finished in 2nd place! Way to go Anne!

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 positive topline data from its RAINBOW study, a Phase 2 clinical trial investigating nizubaglustat in patients with a genetic diagnosis of Niemann-Pick disease type C (NPC) or GM2 gangliosidosis.
Read complete announcement.

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.
Read the letter to the community.

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 Abare, Shawnae Sillanpaa, Elaine Gipson, Caryn Carper, Joshua Swanson 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!

INPDR, NNPDF, and NP Canada Patient Reported Database Webinar Recording

The recording is available for the INPDR, NNPDF, and NP Canada webinar “Empowering North American NPD Families: Understanding the INPDR Patient Reported Database”. Watch the recording.

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.

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].

ASMD Accelerate

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.

May 2024 Newsletter

Newsletters

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!

  1. Select your gear and place your order
  2. In Shipping Method select “PICK UP AT CONFERENCE for FREE”
  3. 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

Newsletters

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.
 
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.

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

Newsletters

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.

February 2024 Newsletter

Newsletters

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

Register in advance.

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.

Read the Orphanet Journal of Rare Diseases publication.

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

Newsletters

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

Newsletters

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.