Celebrating Family Strength During Niemann-Pick Awareness Month

Jill Beirl

#niemannpickawareness #NPC #ASMD #raredisease

October is a special month for the Niemann-Pick disease community, as it marks Niemann-Pick Awareness Month – a time to come together, raise awareness, and celebrate the strength and resilience of those affected by the disease. This year, the National Niemann-Pick Disease Foundation (NNPDF) is focusing on a theme close to our hearts: families and the profound impact that Niemann-Pick has on each member of the family unit. From the person living with Niemann-Pick, to their siblings, parents, and extended family members, everyone is touched by the journey and strength required to navigate this complex condition.

NNPDF is proud to be the national patient advocacy organization that works to support every family member affected by Niemann-Pick disease. While rare disease awareness events often center around those living with the condition, it is equally important to recognize the impact that a disease has on all members of a family. Niemann-Pick Awareness Month holds significant importance for all family members:  

1. Creating a Supportive Network: Niemann-Pick Awareness Month provides a platform for families to come together and connect. In the face of this rare disease, the sense of isolation can be overwhelming. Awareness events help bring together a supportive network of individuals who understand the unique challenges and can offer valuable emotional support.

2. Raising Public Awareness: Rare diseases often suffer from a lack of public awareness, which can hinder research efforts and access to resources. Niemann-Pick Awareness Month shines a much-needed spotlight on the disease, helping to better educate the public and government and industry leaders who have the power to make an impact in our community.

3. Advancing Research and Treatments: Over the past several years, our community has made remarkable strides. We now have a treatment available for ASMD and are witnessing exciting progress in research for Niemann-Pick type C (NPC). Awareness events generate interest and funding for research, bringing us closer to effective treatments and, ultimately, a cure.

4. Empowering Families: Awareness months empower families with knowledge and resources. Families learn about the latest developments in research and treatment options, as well as programs to support the emotional and financial challenges that come with this disease, empowering them to make informed decisions about their loved one’s care.

5. Celebrating Resilience: Despite the challenges we face each day, the Niemann-Pick community exemplifies resilience and strength. Awareness events provide a platform to celebrate the courage and determination of those living with the disease and their families. It is a special time to show the world our strength and the impact we can have when we come together and fight for access to resources and treatments.

This year, as we celebrate Niemann-Pick Awareness Month, let’s take a moment to acknowledge the incredible progress we have made as a community. From the tireless efforts of researchers to the unwavering support of families, we are on the path towards better treatments and more support for all people impacted by this disease.

Throughout October, we invite all members of this amazing community to join NNPDF in recognizing and celebrating the determination and bravery of patients, families, healthcare professionals and advocates. Learn how to use our custom-designed template to tell the world about your connection to Niemann-Pick. Use our social media profile badges to show your support. Visit our awareness month website to learn more about how you can be an advocate and get involved. This month, and every month, join us in raising awareness as we look forward to a future where all people impacted by all types of Niemann-Pick disease have access to life-changing treatments.

Niemann-Pick Awareness Month – Social Media Toolkit

Jill Beirl

Niemann-Pick Awareness Month Social Media Toolkit provides you with resources you can use to show your support for Niemann-Pick Disease Awareness Month throughout October. Be sure to include the official hashtag – #NiemannPickAwareness – to be a part of the online conversation! Feel free to also include the #NPC or #ASMD hashtag with your post.

#SuperSibling Series: Serina Heinze

Jill Beirl

October 2023 – Niemann-Pick Awareness Month

#SuperSibling: Serina Heinze

Serina kicks off our #SuperSibling series with a incredibly inspirational and heartfelt message. Each week in October we’ll highlight another #SuperSibling from the Niemann-Pick community. Watch Serina’s video message.

#niemannpickawareness #npc #asmd #raredisease

Supporting one another. Supporting our community.

Donate Now
Membership
Volunteer

The Importance of Newborn Screening for Niemann-Pick Disease

Jill Beirl

Joslyn Crowe, NNPDF Executive Director

September is Newborn Screening Awareness Month, an important opportunity to focus on this critical and often unmet need in healthcare. Through our materials and programs, NNPDF has been dedicated to raising awareness of the importance of newborn screening for Niemann-Pick diseases and for other lysosomal storage disorders.

Newborn screening is designed to detect certain genetic, metabolic, and congenital disorders in newborn babies. In testing, a blood sample is analyzed to confirm the presence of specific markers or abnormalities that are associated with certain diseases or disorders. Newborn screening can make it possible for many infants to get a diagnosis that can lead to earlier treatment or other steps to protect and improve their health. Early treatment and management is often associated with better outcomes, improved quality of life, and reduced risk of long-term complications associated with certain diseases.

Despite the clear benefits of newborn screening, available programs and access to testing can vary widely by state. The Department of Health and Human Services (HHS) has developed a list called the Recommended Universal Screening Panel (RUSP) that identifies diseases and conditions for which every baby should be screened. Of the 7,000 known rare diseases, only 35 are included in the RUSP.  Niemann-Pick disease is not included on this list.  Each state can determine the diseases that are included in screening in that state. Currently, only Illinois and New Jersey offer newborn screening for ASMD; a new pilot program in New York includes screening for both ASMD and NPC.

NNPDF continues to work in many ways to advocate for the inclusion of Niemann-Pick in more newborn screening panels across the country. Most recently, NNPDF helped to found the Lysosomal Storage Disease Advocacy Coalition (LSDAC), a new coalition of different patient advocacy organizations dedicated to advancing public policy priorities that benefit and improve the quality of life for people living with lysosomal storage disorders. Involvement in the LSDAC supports our newborn screening efforts for ASMD while our advocacy for NPC is executed as an active member of the Firefly Fund’s NPC Newborn Screening Working Group. In April 2023, NNPDF board member Taylor Sabky, attended a newborn screening awareness event held by LSDAC at the State House in Massachusetts to represent the ASMD community in support of legislation that would expand the newborn screening panel to include several lysosomal storage disorders. Taylor shared her son Purnell’s journey with ASMD and the impact that early awareness of the disease through newborn screening would have had on their lives.

“By adding Niemann-Pick to newborn screening panels, you are giving families time and options. Families will not have to wait for months on end wondering what is going on with their child. They won’t have to endure a multitude of appointments or feel like a lab rat as test after test is performed to figure out what’s wrong. People with Niemann-Pick won’t have to experience symptoms without remedy; they can access treatment right away that will keep their livers and spleens normal size and functioning properly, that will help their breathing, that will allow them to continue to engage in their lives like a person, not a patient. And as they plan their future families, they can make informed decisions.” – Taylor Sabky, mother of Purnell

Early diagnosis and intervention of all types of Niemann-Pick disease is crucial, especially as we consider that more treatments might be available in the years ahead. We now have a treatment available for ASMD and many research efforts are underway to develop a treatment for NPC. Delays in diagnosis can lead to more advanced disease that can make treatment more challenging and less successful. During Newborn Screening Awareness Month and throughout the year NNPDF joins with people affected by all types of Niemann-Pick disease as well as caregivers and healthcare professionals to advocate for access to screening services that can have a profoundly positive impact in the management of Niemann-Pick disease. To learn more about our efforts visit nnpdf.org/newborn-screening/

“Newborn screening would have helped us. When I think of all that Purnell accomplished in his short life, I wonder, what more could we have done if we had known about his disease a full year sooner?” – Taylor Sabky

Unlocking the Potential of Digital Health Solutions for Rare Disease Communities

Jill Beirl

Joslyn Crowe, NNPDF Executive Director

In recent years, digital health solutions have emerged as transformative tools that have the potential to redefine how we care for individuals with rare and complex diseases such as Niemann-Pick. The broader integration of many different forms of technology into healthcare represents both an important trend and a potential leap forward in standards of care that can provide more personalized, efficient and comprehensive support for both patients and caregivers.

Digital health solutions now include a broad range of options – everything from telehealth services to new monitoring devices, wearable technologies and home testing capabilities. These advances can rapidly expand access to real time data and other information that can play a role in treatment and patient support. In many cases new devices can be easily used by patients or caregivers while discreetly serving as data collectors that can capture a wide spectrum of vital signs, symptoms, and other observations. For the Niemann-Pick community, these technologies hold significant potential, potentially providing new and more effective methods for tracking symptoms and noting changes in a broad range of health indicators. The data can then be shared with care teams as well as researchers, offering them invaluable insights into disease progression and impact. The information available through new digital technologies can make it easier to understand and assess the impact of Niemann-Pick on someone’s health and quality of life. This level of insight can be a valuable tool at all phases of the Niemann-Pick journey from early symptom onset through diagnosis and long-term management.

Digital health solutions can also empower patients and families, potentially helping opportunities to guide the development of more targeted treatments and interventions, by generating real-time data that can support health decisions in many areas.

NNPDF is partnering with the community organizations including INDPA, INPDR, APMRF, and others to explore the possibilities that digital health technologies can provide for our community. We are speaking with families and clinical experts to gather feedback and will share updates on this progress along the way.

As we advance in this new and promising era in healthcare, our goal is to ensure that you have the information you need about digital health technologies and how they may benefit the Niemann-Pick community. Though the road ahead may be unfamiliar, the potential that these technologies hold for our community is undeniably worth our careful consideration.

September 2023 Newsletter

Jill Beirl

Message from our Executive Director  |  Niemann-Pick Awareness Month  |  Community Connection Opportunities  |  Niemann-Pick Awareness Apparel  |  The Importance of Newborn Screening for NPD  |  Unlocking the Potential of Digital Health Solutions  |  Friends…  |  Milestones  |  The Assistance Fund  |  Comprehensive Care Centers  |  ASMD Accelerate  |  Family Assistance & Support Program  |  Community News Update  |  Fundraising  |  NNPDF Membership

Message from our Executive Director

Dear NNPDF Community,

September has come to a close, children are back at school, and the leaves are beginning to turn in many parts of the country. This month we raised awareness of newborn screening and we continued discussing digital health technologies and the benefits they may have to the Niemann-Pick community, and our Family Services Manager, Laurie, connected with many families to assist with challenges faced or just for a catch up call and supportive resource.

The entire NNPDF team is eager with anticipation for October, one of our favorite months of the year! October is a special month for the Niemann-Pick disease community, as it marks Niemann-Pick Awareness Month – a time to come together, raise awareness, and celebrate the strength and resilience of those affected by the disease. This year, the National Niemann-Pick Disease Foundation (NNPDF) is focusing on a theme close to our hearts: families and the profound impact that Niemann-Pick has on each member of the family unit. From the person living with Niemann-Pick, to their siblings, parents, and extended family members, everyone is touched by the journey and strength required to navigate this complex condition.

We have a variety of ways to engage, to help raise awareness of Niemann-Pick Disease, and to connect with other Niemann-Pick families throughout the month. Each week throughout in October, we’ll have a special focus on our Super Siblings, diagnosed individuals, parents, caregivers, and extended family that you can share.

Highlights include:

  • Custom-designed template to tell the world about your connection to Niemann-Pick
  • Niemann-Pick Awareness badges to use on your social media profile to show your support
  • NNPDF Community Connections Chats: Small group Zoom-based discussions for NPC or ASMD communities (October 3rd, 10th, 23rd, 24th)
  • Coffee and Catch Up: Small group Zoom-based informal gatherings for all community members (October 4th, 11th, 18th, 25th)
  • NNPDF Community Update Webinar series featuring The Assistance Fund (October 11th)
  • NNDPF Community Update Webinar Series featuring a Book Talk with Amy Marcus on her book “We the Scientists”. A Pulitzer Prize–winning reporter’s moving narrative of a group of patient advocates forged a new path for medicine. (October 18th)
  • NNPDF Store is open with all new t-shirts and designs in honor of Niemann-Pick Awareness Month, including designs specific to NPC and ASMD (you asked, we listened!)

Throughout October, we invite all members of this amazing community to join NNPDF in recognizing and celebrating the determination and bravery of patients, families, healthcare professionals and advocates. Visit our awareness month webpage to learn more about how you can be an advocate and get involved. This month, and every month, join us in raising awareness as we look forward to a future where all people impacted by all types of Niemann-Pick disease have access to life-changing treatments.

Sincerely,


Joslyn Crowe
NNPDF Executive Director

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 and help us deliver hope!

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

Learn more on how to get involved!

         

Community Connection Opportunities

Connect with other NNPDF Families during Niemann-Pick Awareness Month! NNPDF will be hosting several opportunities for gathering and connecting virtually starting on October 3rd! 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.

Register Today!

NEW!!! Niemann-Pick Awareness Apparel

NIEMANN-PICK AWARENESS APPAREL is now available! Raise awareness for ASMD or NPC, and even personalize for your family with these NEW design options. Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options available. All proceeds raised in October support NNPDF’s Research programs.

Shop Now!

The Importance of Newborn Screening for Niemann-Pick Disease

September is Newborn Screening Awareness Month, an important opportunity to focus on this critical and often unmet need in healthcare. Through our materials and programs, NNPDF has been dedicated to raising awareness of the importance of newborn screening for Niemann-Pick diseases and for other lysosomal storage disorders.

Newborn screening is designed to detect certain genetic, metabolic, and congenital disorders in newborn babies. In testing, a blood sample is analyzed to confirm the presence of specific markers or abnormalities that are associated with certain diseases or disorders. 

Read complete blog post.

Unlocking the Potential of Digital Health Solutions for Rare Disease Communities

In recent years, digital health solutions have emerged as transformative tools that have the potential to redefine how we care for individuals with rare and complex diseases such as Niemann-Pick. The broader integration of many different forms of technology into healthcare represents both an important trend and a potential leap forward in standards of care that can provide more personalized, efficient and comprehensive support for both patients and caregivers.

Read complete blog post.

Friends...

Why wait until our Family Support & Medical Conference to see each other? Barbara, Debbie, Donna, and Yvonne connected for lunch together in New Paltz, NY for an afternoon of connection and friendship. Families create special bonds through navigating the Niemann-Pick journey. They support each other, share advice, and create lifelong friendships.

Our upcoming Community Connections opportunities offer a way to meet and connect others who share your Niemann-Pick journey. Check out our Upcoming Events page for information.

Milestones

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 nnpdf@nnpdf.org.

The Assistance Fund

The Assistance Fund reenrollment for 2024 will open soon for ASMD families. Join us on October 11th at 8pm ET for a Community Connections featuring The Assistance Fund to learn more about this important program.

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

We are pleased to welcome Ann & Robert H. Lurie Children’s Hospital of Chicago join our Comprehensive Care Centers listing.

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 lturner@nnpdf.org.

ASMD Accelerate

Wylder Nation and NNPDF continue to enroll for ASMD Accelerate. Every child’s story can make a difference for the future of ASMD care.

This study is an opportunity to contribute to ASMD research from home. Signing up with PicnicHealth takes 5 – 10 minutes – after that PicnicHealth’s team collects your child’s longitudinal medical records on your behalf, securely upload them to your PicnicHealth account, and then de-identifies these records for ASMD researchers.

Visit picnichealth.com/asmd-wylder-nation or email asmdstudy@picnichealth.com with 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 familyservices@nnpdf.org if you have any questions about this program.

Community News Update

The NNPDF shares important news and highlights relevant to our Niemann-Pick community as soon as it is received. Visit our Community News web page under the resources tab for up to date information.

Update from Cyclo Therapeutics:
Cyclo Therapeutics, Inc. is pleased to announce that biotechnology company Applied Molecular Transport, Inc. (AMT) will merge with Cyclo Therapeutics. The team at Cyclo will lead the organization and continue to advance our important TransportNPC™ program forward. Read the complete announcement.

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, Patricia Steiger, Andrew Johnson, Jasmine Cady, Paul Fonseca, and Kim Whitaker Skinner 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!

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 familyservices@nnpdf.org or call 920-542-4038

            

Supporting one another. Supporting our community.

Donate Now
Membership
Volunteer

Summer 2023 Newsletter

Jill Beirl

Message from our Executive Director  |  Family Support & Medical Conference Recap  |  NNPDF Breakthrough Award  |  NNPDF Cora Sterling Endurance Award  |  NNPDF Persevere Award  |  Lysosomal Storage Disease Advocacy Coalition  |  ASMD Accelerate  |  ASMD Represented at Sanofi Rare Disease Registries Patient Council  |  Family Assistance & Support Program  |  Clinical Trial Update  |  Community News Update  |  The Assistance Fund  |  Comprehensive Care Centers  |  Fundraising  |  Surveys, Studies, & Market Research  |  NNPDF Membership

Message from our Executive Director

Dear NNPDF Community,

As we say goodbye to the summer season and send many of our young community members off to school, we know that this time of year brings feelings of excitement and challenge for both parents and children. Our team at NNPDF is here to support you and our family services team is available to answer questions and connect you with resources that can make this transition easier. From managing your physical and emotional health to guidance on healthcare and financial issues, we are with you every step of the way.

As we reflect on the past few months, we are filled with gratitude for the participation of all our community members in so many programs and events that are helping to raise broader awareness of Niemann-Pick disease. Our 2023 NNPDF Family Support & Medical Conference showed the magic that can happen when our community comes together and highlighted the unique bonds and invaluable experiences that are possible when families unite to share their stories and experiences. We are so thankful to all who made this year’s conference a huge success and we are already looking forward to seeing you again in 2024.

Looking ahead, we have many exciting programs and initiatives planned, including support for Niemann-Pick Awareness Month in October. Be on the lookout for daily social media content that can be shared with friends and family, insightful webinars with experts in many helpful areas, and a special spotlight on our Super Siblings who all deserve to be recognized for their amazing contributions. We will stand strong in supporting family-driven fundraisers and will join with our global Niemann-Pick community to recognize Niemann-Pick Awareness Day on October 19.

The Niemann-Pick community has supported each other through the accomplishments and the challenges we have met along the path to drug approval. Today we learned that Kisbee Therapeutics will no longer continue its research program into NPC. This is certainly disappointing for our community and a bitter reminder that the path to drug discovery is complex and challenging. We are fortunate to have such an active clinical pipeline and expanded access programs in NPC, and as your patient advocacy and family support organization, NNPDF will continue to partner with the pharmaceutical companies in our space as well as with companies considering pursing Nieman-Pick disease and we will continue to ensure that the patient voice is represented in all aspects.

We will not slow down our efforts until we have FDA-approved treatments for all Niemann-Pick individuals and access to these medicines for everyone in the U.S.

As always, NNPDF is here with information and support services, and we are honored to be a part of your journey. If you need any assistance, please do not hesitate to contact us at nnpdf@nnpdf.org.

Sincerely,


Joslyn Crowe
NNPDF Executive Director

Family Support & Medical Conference Recap

The NNPDF would like to extend a sincere thank you to all of our volunteers, sponsors, and community partners for making our Family Support and Medical Conference a wonderful event for our Niemann-Pick families and community members! It was fantastic to see many of our community members in support of one another. We can’t wait to see you in Salt Lake City, Utah in 2024!

Check out the conference recordings, photos, and more!

2023 NNPDF Breakthrough Award

Congratulations to Sanofi, our 2023 NNPDF Breakthrough Award Recipient!

When thinking about this tremendous milestone – the first approved medicine for ASMD – NNPDF wanted find a meaningful way to recognize this important event. This is a first for the Niemann-Pick community in the US. An approved treatment. A moment we have dreamed about as a community for decades. A moment our families were hesitant to believe would come because the road to approvals has been complicated, and full of disappointments.

We had no roadmap for this, and we had no award or ceremony so fall back on. So we created something that we feel is as special as the moment we are commemorating. Presented for the first time, the NNPDF Breakthrough Award honors industry innovators that have reached significant milestones in developing a treatment to improve the lives of Niemann-Pick disease patients.

This year’s inaugural winner is Sanofi for the FDA-approval of Xenpozyme. The olipudase alfa product was approved in August 2022 for the treatment of non-CNS manifestations of Niemann-Pick types AB and B (acid syphingomylenase deficiency). This is the first, and only, approved treatment for this type of Niemann-Pick disease and the culmination of decades of work and partnership.

NNPDF is proud to honor and recognize Sanofi with our inaugural Breakthrough Award.

Congratulations Sanofi!

2023 NNPDF Persevere Award

Congratulations to Support of Accelerated Research (SOAR), our 2023 Persevere Award Recipient!

The NNPDF Persevere Award is presented annually at the NNPDF Family Support & Medical Conference to a person or organization that has made a significant contribution to the Niemann-Pick community. Nominees can be from the medical and scientific community as well as from the patient and family community. Nominations for this award are solicited from the NNDPF Board of Directors and determined by the NNPDF Award Committee. Past recipients of the Persevere Award include: Dr. Edward Schuchman, Missy & Jim Ward, Lisa Chavez, Dr. Melissa Wasserstein, Dr. Marc Patterson, Dr. Andrew Lieberman, Jim Green, Sandy Cowie, and Dr. Dan Ory.

This year, we are thrilled to honor an organization for the first time. Support of Accelerated Research, better known as SOAR, was created by parents and scientists as a grassroots response to the absence of treatment for Niemann-Pick type C. The primary goal of SOAR is to work as quickly as possible to find evidence-based treatments and ultimately a cure for NPC.

SOAR scientists are internationally recognized in NPC research and supported by family foundations including: Hide & Seek Foundation, Dana’s Angels Research Fund, Race for Adam, Hadley Hope Fund, Hope for Hayley, Johnathan’s Dreams, and more. SOAR also collaborates with NNPDF and APMRF. SOAR’s long-time research coordinator, Cristin Davidson, has become a well-known leader in the NPC community, bridging research and family outreach. Cristin has recently moved to NIH and her role at SOAR will now be led by Wenping Li.

SOAR is recognized for its collaborative scientific focus on research for Niemann-Pick type C, and the cooperative role it plays amongst organizations in the national Niemann-Pick community. NNPDF is proud to honor and recognize SOAR with the 2023 Persevere Award. Congratulations SOAR!

2023 NNPDF Cora Sterling Endurance Award

Congratulations to Liam Ferguson, our 2023 NNPDF Cora Sterling Endurance Award Recipient!

This Award is presented annually to a young person who shines in raising awareness of Niemann-Pick Disease. Nominees should show a special characteristic, strength, and poise that exemplifies their own endurance in the Niemann-Pick journey and raises awareness of Niemann-Pick disease in the community on a small or large level.

This year, NNPDF has the honor of presenting the award to a young man who truly exemplifies ENDURANCE. Liam Ferguson is only 8 years old, but he’s already made an unforgettable impact on so many people. He captures the attention of anyone he meets. Whether it’s by sharing his entertaining jokes, throwing the first pitch at a ball game, sharing a spotlight moment at an awareness event for a pharmaceutical company’s employees, or lending his assistance at the 2019 conference registration booth as the (un)official conference greeter, Liam makes an impact on those around him, always working the crowd to make all feel welcome.

Liam was diagnosed with Niemann-Pick type C as an infant. Now, at the age of 8 years old, Liam does not shy away from the opportunity to speak out (professionally of course) and despite his physical challenges, does not let his diagnosis stop him from trying new things. His big and bright personality, positive no fear attitude, and entertaining jokes set a great example of what ENDURANCE truly looks like to those inside and outside of the Niemann-Pick community.

NNPDF is proud to honor and recognize LIAM FERGUSON with this year’s Endurance Award. Congratulations Liam!

Lysosomal Storage Disease Advocacy Coalition

NNPDF recently was part of the formation of the Lysosomal Storage Disease Advocacy Coalition (LSDAC). Working in an LSD coalition originated from and supports our newborn screening efforts for ASMD. Our newborn screening advocacy for Niemann-Pick type C (NPC) is executed as an active member of the Firefly Fund’s NPC Newborn Screening Working Group.

The LSDAC is a new advocacy coalition of multiple patient advocacy organizations dedicated to advancing public policy priorities that benefit and improve the quality of life for patients living with lysosomal storage disorders (LSDs). Read the press release.

ASMD Represented at Sanofi Rare Disease Registries Patient Council

ASMD Represented at Registries Patient Council
National Niemann-Pick Disease Foundation (NNPDF), International Niemann-Pick Disease Alliance (INPDA), and International Niemann-Pick Disease Registry (INPDR) were represented among 9 global and local patient advocacy groups (PAGs) to participate in the 3rd Sanofi Rare Disease Registries Patient Council. The Council met in Amsterdam on 1 April 2023 to:

  • Engage in a discussion of follow-up from the 2nd Registry Patient Council, which was held in March 2022
  • Hear from the leadership of regional and international PAGs for Gaucher, Fabry, MPS I, Pompe and ASMD diseases about changes in the real-world data ecosystem and registries
  • Share Sanofi’s priorities, focus, and activities on Rare Disease Registries patient initiatives
  • Identify opportunities for future collaboration

The meeting was an exciting day of sharing perspectives of Council members on the importance of real-world data/evidence and the ongoing collaboration with the Rare Disease Registries. We are happy to share the executive summary.
In addition, we are excited to announce that an abstract co-authored by the Council was accepted for a poster presentation at the 2023 Annual Symposium of Society for the Study of Inborn Errors of Metabolism (SSIEM). “A rare partnership: community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem” will be presented on behalf of the entire Council at SSIEM on 29 August – 1 September 2023. View the summary.

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 familyservices@nnpdf.org if you have any questions about this program.

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.

Zevra Therapeutics Update:
Zevra Therapeutics Participates in the 2023 NNPDF Family Support & Medical Conference. Zevra Therapeutics announced their support of the National Niemann-Pick Disease Foundation’s (NNPDF) Family Support and Medical Conference. Members of the Zevra team attended this event which was held in Orlando, Florida, in July. Read the press release.

Community News Update

The NNPDF shares important news and highlights relevant to our Niemann-Pick community as soon as it is received. Visit our Community News web page under the resources tab for up to date information.

Zevra Therapeutics Statement to the Community:
Zevra Therapeutics has shared the following statement to the community with the NNPDF announcing their intention to acquire Acer Therapeutics. Both companies are focused on the development and commercialization of therapies for rare diseases with significant unmet medical needs. Zevra remains steadfast to their key priorities to the NPC community. Read the complete statement. Additionally, the press release can be found here.

Community Statement from Kisbee Therapeutics:
Kisbee Therapeutics has shared the following community statement with the NNPDF community, announcing it will no longer continue its research program into NPC. This is certainly disappointing for our community and a bitter reminder that the path to drug discovery is complex and challenging. We are fortunate to have such an active clinical pipeline and expanded access programs in NPC, and as your patient advocacy and family support organization, NNPDF will continue to partner with the pharmaceutical companies in our space as well as with companies considering pursing Niemann-Pick disease and we will continue to ensure that the patient voice is represented in all aspects. Read the complete statement.

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 lturner@nnpdf.org.

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 Gail Schrivener, Gina Clark, Thomas Barry, and Shane Hemsley 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

Wylder Nation and NNPDF continue to enroll for ASMD Accelerate. Every child’s story can make a difference for the future of ASMD care.

This study is an opportunity to contribute to ASMD research from home. Signing up with PicnicHealth takes 5 – 10 minutes – after that PicnicHealth’s team collects your child’s longitudinal medical records on your behalf, securely upload them to your PicnicHealth account, and then de-identifies these records for ASMD researchers.

Visit picnichealth.com/asmd-wylder-nation or email asmdstudy@picnichealth.com with any questions.

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 familyservices@nnpdf.org or call 920-542-4038

            

Supporting one another. Supporting our community.

Donate Now
Membership
Volunteer

June 2023 Newsletter

Jill Beirl

Message from our Executive Director  |  Family Support & Medical Conference  |  Conference Keynote Speaker Announcement  |  NNPDF In Action  |  Men’s Health Month  | Milestones |  Family Assistance & Support Program  |  Clinical Trial Updates  |  Community News Updates  |  The Assistance Fund  |  Comprehensive Care Centers  |  Fundraising  |  Surveys, Studies, & Market Research  |  NNPDF Membership

Message from our Executive Director

Dear NNPDF Community,

It is hard to believe that our annual Family Support & Medical Conference is less than a month away. All of us at NNPDF are so excited to once again join together to celebrate our community and explore new ways to support all people impacted by all types of Niemann-Pick disease.

This year’s conference marks the 31st anniversary of our special event and we have been hard at work to make sure the agenda caters to everyone. One unique aspect of our conference is the opportunity to engage with leading experts in the field. Industry and medical leaders will share the latest advancements in current research, treatment, and care providing families with the opportunity to gain valuable insights and play an active role in shaping the future of Niemann-Pick disease management. Our keynote speaker, Dr. Klaus Romero, Chief Science Officer, Critical Path Institute (C-Path), will share his experience and offer insights into how leaders can make the drug development process more efficient for communities in critical need of access to treatment. Equally important, our agenda will also features break out sessions led by our Family Services team that can provide important resources for navigating emotional, financial, and physical challenges for caregivers, patients, siblings, and other family members. There will also be many fun activities for children and ample free time to socialize and connect with other families.

The annual Family Conference is also such a special time to help patients and families realize they are not alone. In rare disease communities, the ability to come together in person enables dynamic interactions and the sharing of insights and experiences that can be both emotional and meaningful in so many ways. While our community is strong, the geographical distance that separates us can make in-person connections difficult. For many families, the conference has been their first chance to connect with others who genuinely understand the daily challenges of living with Niemann-Pick disease. These meetings have been transformative for many patients and families, resulting in lifelong friendships and support networks.

We understand that some families may still have concerns about traveling and gathering in-person. We are taking all necessary precautions to ensure the safety and well-being of everyone who attends the meeting this year. For those who cannot attend in person, a virtual option is available.

The conference is just a few weeks away but there is still time to register! I hope you will all plan on joining us to celebrate our community and learn about the latest advances and the best ways to support all people impacted by Niemann-Pick disease. For more information and to register for the conference, please visit: www.nnpdfconf.org.

I look forward to seeing you all very soon!

Sincerely,
Joslyn Crowe
NNPDF Executive Director

Warm Regards,


Joslyn Crowe
NNPDF Executive Director

July 20 – 22, 2023 | Wyndham Grand Bonnet Creek| Orlando, Florida  |  nnpdfconf.org

Conference Registration

There is still time to register for the NNPDF Family Support & Medical Conference!

If you are unable to join us in person but would still like to participate a Virtual Attendance option is available which will allow individuals to watch the general NNPDF Family Support & Medical Conference sessions live from the comfort of their own home. Please select the “Virtual Attendance” option on your registration.

Register Today!

Family Support & Medical Conference

Keynote Address Speaker Announcement

We are pleased to announce Dr. Klaus Romero, Chief Science Officer, Critical Path Institute (C-Path) as our keynote address speaker at our upcoming 31st Annual Family Support & Medical Conference!

Dr. Romero is a clinical pharmacologist and epidemiologist with experience in academic and pharmaceutical clinical research, translational sciences, pharmacometrics, modeling and simulation and pharmacoepidemiology. As a creative clinician scientist, Dr. Romero combines collaborative leadership skills with integrative scientific thinking to make the drug development process more efficient.

We look forward to seeing you in Orlando! Register today!

NNPDF In Action

International Niemann-Pick colleagues together at the 2023 Michael, Marcia, and Christa Parseghian Scientific Conference for Niemann-Pick Type C Research conference.

Solomon Mbua, INPDR; Joslyn Crowe NNPDF & INPDA ; Toni Mathieson, NPUK & INPDA; Sandy Cowie, INPDA & NP Canada; Conan Donnelly, INPDR

Men's Health Month

Dan Reynolds, NNPDF member and husband of Dee (NPC), speaks about the importance of Men’s Health Month and support services available at NNPDF.

Watch the video.

Milestones

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!!

     

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 familyservices@nnpdf.org if you have any questions about this program.

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.

Azafaros Update:
Azafaros has announced enrollment of their first patient in Phase 2 RAINBOW Study evaluating AZ-3102 in GM2 and NP-C Patients. The RAINBOW study design enables rapid advancement into the company’s planned Phase 3 efficacy trial. Read the announcement.

Cyclo Therapeutics Update: 
Cyclo Therapeutics published positive data from their Phase 2 study of Trappsol Cyclo in the journal of Molecular Genetics and Metabolism Reports. Read the full press release which includes additional commentary from the principal investigator, Dr. Caroline Hastings.

Cyclo Therapeutics Update:
Dr. Caroline Hastings, Global Principal Investigator and Head of the Global Steering Committee for the Phase 3 study TransportNPC™ shares an update on their progress to date to advance this pivotal study in patients with Niemann-Pick Type C1. Read the update.

IntraBio Update:
IntraBio is pleased to announce positive pivotal trial results of IB1001 for the treatment of Niemann-Pick Disease Type C. Read the announcement.

Community News Updates

The NNPDF shares important news and highlights relevant to our Niemann-Pick community as soon as it is received. Visit our Community News web page under the resources tab for up to date information.

Update from Mandos Health: Mandos Health has shared the following June 2023 update with the NNPDF community. Read the complete update.

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 lturner@nnpdf.org.

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 Paul Fonseca, Patricia Steiger, Kim Whitaker Skinner, and Garland Alvey 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!

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 familyservices@nnpdf.org for any questions.

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 familyservices@nnpdf.org or call 920-542-4038

            

Supporting one another. Supporting our community.

Donate Now
Membership
Volunteer

Honoring and Supporting Men Who Serve as Caregivers

Jill Beirl

June is Men’s Health Month, a great time to focus on the many important issues in healthcare that affect men specifically. At the National Niemann-Pick Disease Foundation (NNPDF), we are taking this opportunity to highlight the contributions of an important and growing group of often unsung heroes in our community – the many men who care for people living with Niemann-Pick disease.

In recent years, many of us in the Niemann-Pick community have observed an interesting phenomenon. There has been an increase in the number of men who are stepping into a primary caregiver role.  Multiple factors may be contributing to this change, including progress in treatment and patient management that is helping more people with Niemann-Pick to live longer and fuller lives, and societal changes that reinforce that many family responsibilities that have historically been assumed by women can and often should be handled by men either solo or in partnership. At NNPDF we have consistently worked to understand the challenges that caregivers can face and to develop the resources and programs that can ease their burden and help them succeed. It is vitally important that our services reach and support both men and women caregivers, and we must also work to assess any challenges or issues in caregiving that may be unique to or more common among men.

A key issue we work to understand and address at NNPDF is the fact that many caregivers, both men and women, face physical, emotional and financial challenges in their roles, and they often are hesitant to reach out for help. But studies indicate that men are much more likely to not engage in help-seeking behavior and to downplay their physical and mental health symptoms (1,2). Men are also more likely to associate seeking assistance for a psychological or emotional problem with shame or weakness (3). Men who serve as caregivers may also be more prone to feelings of loneliness and isolation because they have limited opportunities to connect with other men who are in similar caregiving roles. These characteristics can have a devastating impact on both caregivers as well as the patients they care for. 

To address these challenges, NNPDF is now working in many ways to develop opportunities for male caregivers to connect, learn, and receive the support they need. We offer customized support groups, counseling services, and educational resources to help caregivers learn about best practices and available resources that can help. Our Family Assistance and Support Program provides assistance to families facing unexpected medical expenses or financial hardships, alleviating some of the financial stress they may encounter. Our Family Services program provides many resources and support services that can help families navigate the challenges of living with Niemann-Pick disease. We advocate for targeted resources that address the specific needs of both men and women caregivers to ensure they have access to the support they need. Our annual Family Support & Medical Conference serves as a vital opportunity for caregivers to foster friendships and networks of support that are invaluable during difficult times, and each year more men join and have the opportunity to connect with male peers who understand their unique experiences.

By focusing on and honoring the role that caregivers can play in supporting someone with Niemann-Pick disease, NNPDF is also working to reinforce that seeking help can be an act of courage. It is another reflection of a caregiver’s commitment to getting the job done right and being as effective as possible in the role. This month, we invite all members of the Niemann-Pick disease community to join in celebrating the many selfless and courageous men who have dedicated themselves to caring for a loved one impacted by Niemann-Pick disease. By raising awareness of the role of male caregivers and prioritizing their support, we can create a stronger, more compassionate community that uplifts and empowers all those affected by Niemann-Pick disease. To make sure that all Niemann-Pick families have the support they need at all times, we must take steps to ensure that all caregivers feel recognized, supported, and empowered throughout their caregiving journey.

References
[1] Cochran, S. V., & Rabinowitz, F. E. (2000). Men and depression: Clinical and empirical perspectives. San Diego, CA: Academic Press.
[2] Paulson, J. F., & Bazemore, S. D. (2010). Prenatal and postpartum depression in fathers and its association with maternal depression: a meta-analysis. JAMA, 303(19): 1961-9. doi: 10.1001/jama.2010.605.
[3] Addis, M. E. & Mahalik, J. R. (2003). Men, masculinity, and the contexts of help-seeking. American Psychologist, 58(1): 5–14. doi:10.1037/0003-066X.58.1.5

May 2023 Newsletter

Jill Beirl

Message from our Family Services Manager  |  Family Support & Medical Conference  |  Family Advisory Working Groups  |  Conference Accommodations  |  Conference Registration  |  Conference Keynote Speaker Announcement  |  NNPDF In Action  |  Congratulations Christopher Sousa  |  RARE Act  |  Family Assistance & Support Program  |  ASMD Survey Opportunity  |  NPC Survey Opportunity  |  Clinical Trial Updates  |  Community News Updates  |  The Assistance Fund  |  Comprehensive Care Centers  |  Fundraising  |  Surveys, Studies, & Market Research  |  NNPDF Membership

Message from our Family Services Manager

As we wrap up the month of May, we get ready to move into summer and here at NNPDF, that only means one thing… It’s almost conference time! 2023 will not disappoint as being one of the largest conferences yet! We hope your family will be able to attend. Please contact me if you have any questions. Scholarship funding is still available to help with your hotel stay.  

Spring and early summer is one of my favorite times of year here at NNPDF, as many are calling to ask questions and gather information regarding conferences, and I love to have the opportunity to catch up and talk with you all! NNPDF’s Family Support & Medical Conference provides a time to connect with others who completely understand the Niemann-Pick Journey – it is a heartwarming and energizing time to be together. I get a lot of questions about our conference and thought it might be helpful share some of the answers with you!

Is the NNPDF Conference family friendly?  YES – we encourage entire families to come! The conference provides the opportunity for all to connect, share, and make new friends while attending sessions or Activity Zone.

What is Activity Zone?  The easy answer – loads of fun!  We have the greatest bunch of volunteers that know and understand both ASMD and NPC and trust me when I say your children will not want to leave.  Fun, safe, and supervised entertainment to keep everyone happy!

What should I wear?  Plan to dress comfortably and remember a light sweater for the meeting rooms during sessions – hotels tend to be cool! For the Gala we have folks that prefer to go all out and dress in their fancy clothes, and others who wear their normal jeans. The best part is – whatever works for you is okay!  (Remember to wear comfy shoes on Saturday night so you can dance the night away!)

Should I bring my children to the Saturday Night Gala Dinner?  YES!  Activity Zone works hard all weekend for some special gala dinner entertainment you won’t want to miss – also the fun and dancing is the best.

Spring and Summer time also means time for special occasions and other milestones. Does your family have a special occasion to share with us? Graduations, weddings, school awards, dance recitals etc., we want to help share with everyone. Please email photos and details of your special event or milestone to nnpdf@nnpdf.org.

Also, please remember to touch base if you have any questions about the Family Assistance and Support Program that offers help to eligible NNPDF U.S. member families facing a financial obstacle. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills, adaptive home repairs, and more.

Looking forward to seeing your family in Florida if you are able to come – and always here to connect anytime!

Warm Regards,


Laurie Turner
NNPDF Family Services Manager

July 20 – 22, 2023 | Wyndham Grand Bonnet Creek| Orlando, Florida  |  nnpdfconf.org

NNPDF Family Advisory Working Groups

Application Deadline May 31st

NNPDF Family Advisory Working Groups will take place  on Thursday, July 20th from 1:00 – 4:00 pm EST prior to the start of our Family Support & Medical Conference in Orlando. 

If you have any questions about or are interested in participating in our Family Advisory Working Groups, please reach out to Laurie Turner at lturner@nnpdf.org or call 877-287-3672.

Conference Accommodations

Reserve by June 15th

NNPDF group rate will be available until June 15, 2023. NNPDF Group Rate is $159. Total cost including taxes is $178.88 per night. The NNPDF hotel group rate is available three days before and three days after the conference, dependent on hotel availability.

Reserve Your Room

Conference Registration

Register by June 28th

Included with your registration is a complimentary 2023 NNPDF Family Support & Medical Conference shirt! Register by June 28th to ensure your shirt will be waiting for you at the conference!

Register Today!

Family Support & Medical Conference

Keynote Address Speaker Announcement

We are pleased to announce Dr. Klaus Romero, Chief Science Officer, Critical Path Institute (C-Path) as our keynote address speaker at our upcoming 31st Annual Family Support & Medical Conference!

Dr. Romero is a clinical pharmacologist and epidemiologist with experience in academic and pharmaceutical clinical research, translational sciences, pharmacometrics, modeling and simulation and pharmacoepidemiology. As a creative clinician scientist, Dr. Romero combines collaborative leadership skills with integrative scientific thinking to make the drug development process more efficient.

We look forward to seeing you in Orlando! Register today!

NNPDF In Action

NORD Impact Awards
Justin Hopkin and Garrett had the privilege of representing the ASMD community at the National Organization for Rare Disorders Rare Impact Awards in Washington DC. Garrett had the distinct honor of presenting Sanofi with the Industry Impact Award. Sanofi partnered with the Niemann-Pick community for two decades to translate promising science into an FDA-approved therapy. We are thankful for Sanofi’s commitment to rare diseases and providing life-changing therapies to patients in need.

Pictured: Bill Sibold, Executive Vice President, Head, Specialty Care at Sanofi, Garrett Hopkin, and Justin Hopkin. 

World Orphan Drug Congress USA
NNPDF Executive Director, Joslyn Crowe, recently moderated a panel discussion at World Orphan Drug Congress USA entitled “Intersection of data providers and rare disease patient groups – How can providers and advocacy groups work more effectively together to benefit rare disease patients”. Panelists Tricha Shivas, Connie Lee, and Elizabeth Ottinger shared valuable insights into opportunities and barriers that exist for data usage by patient groups and what types of collaborative efforts may benefit drug development overall.

The World Orphan Drug Congress brings together leading pharmaceutical and biotech companies, government and regulatory authorities, patient advocacy groups, payers, investors, and solution providers to meet and brainstorm ways to advance orphan drug development and improve access to life-saving therapie

Congratulations Christopher Sousa

Congratulations to Christopher Sousa on his upcoming graduation from the University of California, Davis with a Bachelor of Science degree majoring in Biochemistry and Molecular Biology, along with minors in Global Disease Biology and Latin American & Hemispheric Studies. Christopher hopes to help further Niemann-Pick disease research in the future, honoring his brother Connor and a young cousin with NPC, and all those affected by Niemann-Pick disease.

We were happy to honor Christopher as our NNPDF Cora Sterling Endurance Award recipient at our 2022 Family Support & Medical Conference. Congratulations to you Christopher – well done and we wish all the best in your bright future!

RARE Act

NNPDF is among 78 organizations that joined in support of S. 1214, the Retaining Access and Restoring Exclusivity (RARE) Act, as introduced by Senator Tammy Baldwin, in the upcoming markup for HELP Committee consideration. The RARE Act would maintain the original intent of the Orphan Drug Act, making clear that orphan drug exclusivity is tied to the approved indication, while ensuring proper incentives remain in place to ensure that robust rare disease drug development continues for all rare disease patients.

Read the RARE Act letter of support.

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 familyservices@nnpdf.org if you have any questions about this program.

NPC Clinical Severity Scale (NPCCSS)

NPC Survey Opportunity:  Are you an individual with NPC or the dedicated caregiver of an NPC patient? Are you 18 years old or above? We invite you to join an exclusive interview study! Your valuable insights will help enhance a questionnaire that assesses the severity of symptoms in NPC patients.

As a token of appreciation, you will receive a $10 Amazon gift voucher for your time and contribution! Rest assured, this study has obtained ethical approval from Aston University and is part of an ongoing PhD project.

To learn more, simply click this link: t.ly/NPCCSS-2023 or reach out to Jackson Pountney via email at 200216137@aston.ac.uk

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.

Cyclo Therapeutics Update: 
We are continuing our Phase 3 study TransportNPC™ (Intravenous 2-hydroxypropyl-ß-cyclodextrin), to evaluate the safety and efficacy of a potential disease modifying therapy to treat NPC. This is the most extensive and advanced study underway in NPC and we are pleased to let you know that we are approximately 50% enrolled, and on track to complete enrollment by the end of this year. Read complete update.

Cylco Therapeutics Update: In Cyclo Therapeutics’ May newsletter, Senior Medical Science Liaison, Joseph Mejia, MD shares an update on Phase 3 Study home infusion availability, along with a “get to know” spotlight of our very own Laurie Turner, NNPDF Family Services Manager. Read more.

Azafaros Update:  Azafaros has announced that the first US site for the Phase II RAINBOW study, led by Dr. Marc Patterson has received Institutional Review Board (IRB) approval. The clinical trial (NCT05758922) is being conducted in the US and Brazil with its lead asset, AZ-3102, in patients with Niemann-Pick Type C and GM2 gangliosidosis. Read the press release and RAINBOW Study Q & A.

Community News Updates

The NNPDF shares important news and highlights relevant to our Niemann-Pick community as soon as it is received. Visit our Community News web page under the resources tab for up to date information.

Letter to the International NPC Community Introducing Bloomsbury Genetic Therapies: We are happy to share the following open letter to the International NPC community on behalf of Adrien Lemoine, co-founder & CEO of Bloomsbury Genetic Therapies, introducing Bloomsbury and sharing their plans and progress in developing a new gene therapy treatment for NPC. Read the Open Letter to NPC Community and the press release.

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 lturner@nnpdf.org.

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!

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 familyservices@nnpdf.org for any questions.

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 familyservices@nnpdf.org or call 920-542-4038

            

Supporting one another. Supporting our community.

Donate Now
Membership
Volunteer