Newsletters

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

Early Bird Registration Discounts

Register by May 15th

Discounted Registration Rate:
Register by May 15th 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 $400 (adults $150 and children $50). 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 glad to have you!

NNPDF Cora Sterling Endurance Award

Nomination 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 created in honor of the lives of these two cherished children (both diagnosed with ASMD) and their parents. This scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD.

NNPDF Family Advisory Working Groups

Application Deadline May 31st

NNPDF will host Family Advisory Working Groups that will take place on Thursday, July 20, 2023 from 1:00 pm – 4:00 pm EST. This is an optional event that will take place prior to the start of our Family Support & Medical Conference at the Wyndham Grand Hotel in Orlando. Family Advisory Working Groups will provide Industry partners the opportunity to connect privately with a group of 6-10 NPC or ASMD patients and/or immediate family members for a 3-hour session. Pre-registration is required. Application deadline is May 31st.

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.

Conference Scholarships

Scholarship funding is available to help families attend the 2023 NNPDF Family Support and Medical Conference. NNPDF members living in the US are eligible to apply for scholarship assistance. The NNPDF Family Conference Scholarship is available for families to help ease the cost of attending the family conference. This scholarship is limited to immediate family members of an individual with Niemann-Pick Disease.

Supporting the Niemann-Pick Community in an era where treatments are possible

By Laurie Turner, NNPDF Family Services Manager

Throughout its history, the National Niemann-Pick Disease Foundation (NNPDF) has been committed to providing support that can make the journey of living with Niemann-Pick disease easier. And for most of that time, the focus has been on helping patients get the information and support they need while no approved treatments have been available. In my role as NNPDF Family Services Manager, I have seen firsthand how patients and caregivers have worked tirelessly to support research and to take whatever steps are available to preserve and protect their health. I have witnessed extraordinary efforts to overcome so many challenges and to try to stay positive and keep fighting. And at NNPDF we have continually worked to expand and revise our resources and support programs to meet the changing needs of our community in new and better ways.

Read the article in its entirety.

Navigating Together: Moms of Adults Diagnosed with NPC

NNPDF Family Services is launching the new Navigating Together: Moms of Adults diagnosed with NPC small group program for mothers in our community with adult children living with NPC that were diagnosed at the age of 21 or older.

Virtual Sessions will be held May 1, May 22, and June 12 from 4:00 – 5:00 pm ET

Our program will include small group sessions specifically for mothers to come together and share (via Zoom online platform) with one another under the guidance of Shoshanna Hecht, Licensed Clinical Social Worker, Executive + Personal Coach. Sessions are at no cost to NNPDF community members and space is limited. Preregistration is required.

If you would like to participate in Navigating Together: Moms of Adults diagnosed with NPC, be sure to register in advance.

If you have any questions about Navigating Together: Moms of Adults diagnosed with NPC, or have a suggestion for Navigating together future programming, please contact Laurie Turner, Family Services Manager at familyservices@nnpdf.org or 603-413-8707.

Invisible Interviews "Alec's Story"

The final installment of the “Invisible Interviews” series is here! This was a collaborative effort released through the INPDA International Niemann-Pick Disease Alliance featuring Gail Koujaian, NNPDF Board of Directors and Alec Koujaian, NPC. The story is as emotionally powerful as it is entertaining, with both vulnerability and passion – we feel privileged to be able to share with you all.

Watch the video.

NNPDF In Action

Taylor Sabky, NNPDF Board of Directors, Joslyn Crowe, NNPDF Executive Director, and Laurie Turner, NNPDF Family Services Manager attended the Lysosomal Storage Disorders Advocacy Coalition newborn screening event 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 made on their lives.

If passed, HD 314, The Lysosomal Storage Disease Newborn Screening Legislation would add Niemann-Pick Disease ASMD, along with 5 additional rare diseases, on the Massachusetts Newborn Screening Panel. We are grateful to our state legislators for making space to consider this important bill and to the other patient advocates for sharing their stories.

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.

The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolism

In this article Frank W. Pfrieger, PhD, provides a comprehensive description and detailed history of the Niemann-Pick diseases including a listing of all experimental therapies to date. Read the article.

Help Us Better Understand ASMD Survey

Pinpoint Patient Recruiting, a market research recruitment company, is searching for people living with ASMD, as well as caregivers of people living with ASMD, to participate in a series of paid market research opportunities. The objective of the opportunities is to better understand the experiences of people living with ASMD, as well as their caregivers, and help improve their quality of care. The activities can be done from home at a date/time that is most convenient for you. All participants must live in the US. Read complete details.

Pfrieger's Digest

NNPDF is pleased to share the latest edition of Pfrieger’s Digest, written by Frank Pfrieger, PhD of Niemann-Pick Selbsthiifegruppe (Germany). This publication provides a summary of research advances based on selected peer-reviewed publications in scientific journals. Read Issue 8.

Rare Disease Advisory Councils

NNPDF continues to support Rare Disease Advisory Councils (RDACs) 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. Currently, 24 states have RDACs. NNPDF recently signed in support of creating an RDAC in the state of Texas. Read the letter and learn more about this issue.

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!

THANK YOU to Allison Reiter and Dakota Cramer who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

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.

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.

March 2023 Newsletter

Newsletters

Message from the Board Chair

Dear NNPDF community,

We are very pleased to announce that registration for our upcoming Family Support & Medical Conference is now open! We are excited to host our in-person conference in Orlando, Florida, from July 20-22, 2023. While COVID showed us the possibilities of virtual meetings and helped us all stay connected, nothing can compare to the amazing experience of being together in person.

For most people, and especially in rare disease communities, joining together in-person makes it possible to interact and share insights and experiences in ways that are dynamic and often very emotional and meaningful. Despite being strong, our community is small and geographically dispersed. For many, the conference has been the very first chance to connect with others who truly understand the daily challenges of living with Niemann-Pick disease. These meetings have been transformational moments for many of us. Connections from the meeting have turned into lifelong friendships and support networks.

In addition to meeting with other families, attending the conference in person provides the opportunity to fully immerse yourself in the experience and hear directly from leading experts in research and care from the scientific, medical, and advocacy communities. You will have the chance to participate in hands-on workshops, ask questions and share your opinions, interact with experts in our breakout sessions, and join for our incredibly fun gala dinner event.

To help ease the financial burden of attending this meeting, NNPDF is proud to offer scholarship opportunities that can help with some travel costs. To learn more and apply, please visit: nnpdfconf.org/scholarships.

We also understand that many people 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, there will still be a virtual option.

We are so excited to be in the final stages of planning this special annual event and sincerely hope you will all join us to celebrate our community and learn about the advances in research and the best ways to support all people impacted by Niemann-Pick disease. For more information and to register for the conference, please visit: nnpdfconf.org. As always, we are here to answer any questions or provide support in any way we can. Please do not hesitate to reach out to us at nnpdf@nnpdf.org.

I can’t wait to see you all soon!

Sincerely,
Becky McGuire
NNPDF Board Chair

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

NNPDF is busy planning the details of our 31st Annual NNPDF Family Support & Medical Conference and we are excited to see you there! NNPDF has many exciting opportunities to get involved in research and to connect with expert clinicians, researchers, and other Niemann-Pick families who share your journey. Be sure to watch NNPDF communications for important updates and deadlines.

Conference Scholarships

Application Deadline April 1st

Scholarship funding is available to help families attend the 2023 NNPDF Family Support and Medical Conference. NNPDF members living in the US are eligible to apply for scholarship assistance. The NNPDF Family Conference Scholarship is available for families to help ease the cost of attending the family conference. This scholarship is limited to immediate family members of an individual with Niemann-Pick Disease.

Early Bird Registration Discounts

Register by May 15th

Discounted Registration Rate:
Register by May 15th 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 $400 (adults $150 and children $50). 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 glad to have you!

NNPDF Family Advisory Working Groups

Application Deadline May 31st

NNPDF will host Family Advisory Working Groups that will take place on Thursday, July 20, 2023 from 1:00 pm – 4:00 pm EST. This is an optional event that will take place prior to the start of our Family Support & Medical Conference at the Wyndham Grand Hotel in Orlando. Family Advisory Working Groups will provide Industry partners the opportunity to connect privately with a group of 6-10 NPC or ASMD patients and/or immediate family members for a 3-hour session. Pre-registration is required. Application deadline is May 31st.

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.

NNPDF Cora Sterling Endurance Award

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. Nomination deadline is May 15th.

Joele Ruppert & Joseph Colton ASMD Scholarship

NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship created in honor of the lives of these two cherished children (both diagnosed with ASMD) and their parents. This scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD. Application deadline is May 15th.

ASMD Patient Experience with Olipudase Alfa Survey

The International Niemann-Pick Disease Registry (INPDR) is conducting this survey in collaboration with The National Niemann-Pick Disease Foundation, Inc. (NNPDF), International Niemann-Pick Disease Alliance (INPDA), and Niemann-Pick UK (NPUK). This survey forms part of a larger study that includes interviews with Niemann-Pick disease type A/B and type B (ASMD) patients, which will explore the questions in this survey in more depth.

If you or someone you know are interested in participating, learn more and take the survey here.

NNPDF and NTSAD Community Meeting Update

A community meeting which brought together the NNPDF, the National Tay Sachs & Allied Diseases Association (NTSAD) and Azafaros, a clinical-stage biotech company, was held on February 8, 2023.

During this lively Q and A session the Niemann-Pick and GM2 patient community had the chance to receive more information and ask questions to the medical team at Azafaros regarding the Phase II study – RAINBOW. This is a randomized, double-blind, placebo-controlled, multicentre, 12-week study to evaluate the tolerability, pharmokinetics and pharmodynamics of Oral AZ-3102 in patients With GM2 gangliosidosis or Niemann-Pick Type C (NPC) diseases.

The study aims to evaluate the correct doses of AZ-3102 by evaluating the clearance of the treatment from the body and the safety of two different doses in a small number of patients with these diseases.

The two organizations and Azafaros held the positive exchange as part of their mutual and long-standing goal to find treatments and solutions for GM1, GM2, and Niemann-Pick Type C (NPC) diseases.

If you would like further information on the RAINBOW study, ask your care team or go to clinicaltrials.gov. For further inquiries you can reach out to Gisela Linthorst, Head of Patient Advocacy at Azafaros at gisela.Linthorst@azafaros.com.

The Impact of Dysarthria

In this video, NNPDF Board Member Cara Gilmore provides insight into her journey with Niemann-Pick disease type C and the impact of Dysarthria on her day-to-day life. Thank you for sharing Cara. Watch the video.

NNPDF Advocacy Update: Interstate Medical Licensure Compact

The Interstate Medical Licensure Compact is an agreement among participating U.S. states to work together to significantly streamline the licensing process for physicians who want to practice out-of-state. It offers a voluntary, expedited pathway to licensure for physicians who qualify. The Compact has the potential to increase access to health care and extend the reach of physicians through telemedicine.

As a partner of the Rare & Ready Genetic Condition Coalition, NNPDF has joined with 46 non-profit rare disease patient organizations in support of the Interstate Medical Licensure Compact. Read the letter below and learn more about this issue.

Letter to State of Virginia

Courageous Parents Network Virtual Workshop

Courageous Parents Network invites you to join their upcoming virtual workshop: Understanding and Addressing Pediatric Medical Trauma on Wednesday, April 12th at 8:00 pm ET.

Anyone, from infancy through adulthood can experience medical trauma. Caregivers can too. Understanding what medical trauma is and knowing the signs can help you get support for your child and family. Dr. Meghan Marsac, pediatric psychologist and pediatric medical trauma expert, and Melissa Hogan, mother of a child with a rare disease, wrote the book “Afraid of the Doctor” to help families who experience stressful and potentially traumatic medical events. Join us in conversation with them to learn more about this important topic. Register here!

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.

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!

THANK YOU to Mari Lombardo Sanetra, KayLa Miller, and Gianna Kandrach who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

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.

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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Supporting one another. Supporting our community.

February 2023 Newsletter

Newsletters

NNPDF is Showing our Stripes for Rare Disease Day 2023

Every year, the National Niemann-Pick Disease Foundation (NNPDF) proudly joins with patients, families, healthcare leaders and advocacy groups to recognize Rare Disease Day (RDD) on the last day of February. We take this opportunity to show our support not only for the Niemann-Pick community, but also for 6,000+ other rare disease communities across the world.

In many awareness efforts during RDD, we often see images of zebras – the “official” symbol of rare diseases in the United States. This image ties in directly to the “show our stripes” theme embraced by many advocacy groups. But what does this really mean? How does a zebra relate to people living with rare diseases and why does this matter?

The use of the zebra as a symbol for rare disease communities began in the late 1940s when medical students were taught the saying “when you hear hoofbeats, think horses, not zebras.” This phrase was intended to remind medical professionals to consider the most common and likely diagnoses first, rather than getting caught up in trying to diagnosis a rare or exotic disease early in the patient’s care. But as more and more rare diseases were discovered, the healthcare community started to realize that many patients are affected by rare diseases and that providers should take steps to expand their diagnosis strategy in many cases. The need is especially acute given that many rare diseases are misdiagnosed and the path to diagnosis can often take years or even decades. Over time, the zebra came to serve as a reminder for healthcare professionals to consider the possibility of a rare disease when faced with complex or unusual symptoms.

The zebra symbol is particularly meaningful for the Niemann-Pick disease community. While efforts to build awareness have made progress, Niemann-Pick disease is still not widely known or understood. Patients often must undergo a series of tests and doctor visits before they reach a diagnosis. Many of the more common symptoms associated with Niemann-Pick are also associated with other more common diseases. It is not surprising then that many doctors continue to first consider a “horse” rather than a “zebra” in assessing patients. As an organization, and a community, we must help build broader awareness of the need to consider Niemann-Pick disease for at-risk patients. Our work to raise awareness can help more medical professionals to become familiar with the signs and symptoms that can lead to an accurate Niemann-Pick diagnosis. We must continue to highlight the importance of early diagnosis and treatment, which can greatly improve the quality of life for patients and their families.

This Rare Disease Day, NNPDF is calling on every member of our wonderful community to “show your stripes” and join us in supporting people affected by rare diseases. Together, we will create a world where more people with rare diseases receive timely and accurate diagnoses, have access to effective treatments, and are able to live their lives to the fullest. No family needs to face a rare disease alone. United we represent hope, determination, and a community that refuses to give up.

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.

Participate by providing us your Health Care Heroes’ information by March 15th.

ASMD Patient Experience with Olipudase Alfa Survey

The International Niemann-Pick Disease Registry (INPDR) is conducting this survey in collaboration with The National Niemann-Pick Disease Foundation, Inc. (NNPDF), International Niemann-Pick Disease Alliance (INPDA), and Niemann-Pick UK (NPUK). This survey forms part of a larger study that includes interviews with Niemann-Pick disease type A/B and type B (ASMD) patients, which will explore the questions in this survey in more depth.

If you or someone you know are interested in participating, learn more and take the survey here.

NNPDF Family Support & Medical Conference

July 20 – 22, 2023

Wyndham Grand Orlando Resort Bonnet Creek | Orlando, Florida

We look forward to seeing you at our 31st Annual NNPDF Family Support & Medical Conference! NNPDF has many exciting opportunities to get involved in research and to connect with expert clinicians, researchers, and other Niemann-Pick families who share your journey. Register and reserve your room today!

____________________________________________

Conference Registration | Hotel Reservations | Conference Information

NNPDF Family Advisory Working Groups

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) will host Family Advisory Working Groups that will take place on Thursday, July 20, 2023 from 1:00 pm – 4:00 pm EST at the Wyndham Grand Hotel, Orlando. This is an optional event that will take place prior to the start of our Family Support & Medical Conference. Pre-registration is required.

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. Due to limited space, there is a limit of 2 participants per family. Participants must be adults living in the United States. Participants are eligible for a $350 stipend per participant and 1-night hotel included per family, limited to the night prior to the session. Application deadline is May 31st.

Family Conference Scholarships

Scholarship funding is available to help families attend the 2023 NNPDF Family Support and Medical Conference. NNPDF members living in the US are eligible to apply for scholarship assistance. The NNPDF Family Conference Scholarship is available for families to help ease the cost of attending the family conference. This scholarship is limited to immediate family members of an individual with Niemann-Pick Disease.

The NNPDF Family Conference Scholarship will provide up to three (3) nights hotel (room and tax only*) to eligible applicants. Application deadline is April 1st.

NNPDF In Action

Joslyn Crowe, NNPDF Executive Director and Justin Hopkin, MD, NNPDF Board Chair Emeritus along with our Niemann-Pick colleagues attended WORLDSymposium for Lysosomal Storage Diseases last week where the latest updates on research, diagnosis, and treatment of lysosomal storage conditions was shared.

The NNPDF, NPUK, INPDA and INPDR had 6 posters that were presented on our latest research. Visit our publications page to view the following posters that were presented:

Acid sphingomyelinase deficiency: Burden of disease and real-world impact of enzyme replacement therapy on pediatric patients and caregivers
The impact of olipudase alfa on QoL in pediatric ASMD patients
with neurologic disease
Access Burdens Reported by Patients vs. Caregivers in Acid Sphingomyelinase Deficiency (ASMD)
Collaboration between patient advocacy and industry to create a master protocol to investigate the novel therapy acetyl-L-leucine for three ultrarare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosides and Ataxia-telangiectasia
Fear Related to Access Issues in Acid Sphingomyelinase Deficiency (ASMD)
Health Insurance Literacy in Acid Sphingomyelinase Deficiency (ASMD)

Our Niemann-Pick colleagues exchanged insights with Sanofi senior leadership at Sanofi’s Patient Advocacy event at WORLD Symposium: (left to right) Eric Racine, Head, US Public Affairs & Patient Advocacy, Sanofi; Shannon Resetich, Global Franchise Head, Rare Diseases, Sanofi; Paul Hudson, CEO, Sanofi; Sandy Cowie, President, INPDA; Bill Sibold, Executive VP, Head, Specialty Care, Sanofi; Conan Donnelly, CEO, INPDR; Justin Hopkin, Board Chair Emeritus, NNPDF; Joslyn Crowe, Executive Director, NNPDF; Jose Noguera, Global Public Affairs Lead, Gaucher & ASMD, Sanofi; Toni Mathieson, Chief Executive, NPUK; Stephen Meunier, Head, Public Affairs & Patient Advocacy, Rare Disease, Sanofi

NNPDF Pop-Up Store NOW OPEN!

Hey NNPDF Community! We are excited to share our NNPDF Pop-Up Store is NOW OPEN for a limited time! Get your NNPDF gear and support your community. Check out our new apparel and other NNPDF items. Order today! Store will be open through March 19, 2023.

Courageous Parents Network Virtual Workshop

Courageous Parents Network invites you to join their upcoming virtual workshop: Grieving in Relation to Others on Tuesday, March 21st at 8:00 pm ET

Grief whether anticipatory or in bereavement is a shared experience for the family and yet each member will likely experience and process grief in different ways, over different periods of time and with varied physical and emotional manifestations. Taryn Schuelke, CT, CCLS, former Grief and Bereavement Specialist on the Pediatric Palliative Care Team at Texas Children’s Hospital will offer insights on how to grieve alongside others. Register here!

The workshop is free and we hope you will take advantage of this offering.

Rare Disease Advisory Councils

NNPDF continues to support Rare Disease Advisory Councils (RDACs) 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. Currently, 24 states have RDACs. NNPDF recently signed in support of creating an RDAC in the state of Indiana. Read the letter and learn more about this issue.

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, including:

Prescription drugs (copays, deductibles, and coinsurance)
Health insurance premiums
Therapy administration costs
Disease management (such as prescribing-physician copayments), treatment-related travel costs, and genetic testing

Learn more about The Financial Assistance 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.

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!

THANK YOU to Rosangela Nascimento, Carolina Dahlqvist, Keith Travels and Jennifer Gregory who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

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 KemPharm:
KemPharm has shared the following press release with the NNPDF announcing its name change to Zevra Therapeutics. Read press release.

Zevra Therapeutics (formerly KemPharm) has also announced that two abstracts involving clinical research of arimoclomol for the treatment of Niemann-Pick disease type C (NPC) have been accepted for presentation at WORLDSymposium 2023. Read the announcement.

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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Supporting one another. Supporting our community.

January 2023 Newsletter

Newsletters

Message from the Executive Director

Dear NNPDF Community,

It is hard to believe that we are already a month into the new year. With Rare Disease Day just a few weeks away, this is a great opportunity to express our gratitude to the many members of the Niemann-Pick disease community who support our work at NNPDF. We would also like to take this opportunity to thank you for your continued support and to highlight the many ways that these efforts are making a positive difference.

On February 28th, patients, families, friends, clinicians, researchers, industry leaders and policy makers will join together to raise awareness of the issues impacting more than 300 million people around the world who are affected by rare diseases. At NNPDF, we will be launching a range of initiatives to help raise awareness of the impact of Niemann-Pick disease on social media, through blog posts and LinkedIn articles, and by continuing our efforts to highlight the critical need for research that can lead to new treatments.

This year’s Rare Disease Day theme is “Share Your Colors.” This highlights the importance of elevating all our voices to make sure our needs are being heard by people who can help make a difference. By using your voice to share your story, you can help more people learn about Niemann-Pick disease. By sharing your story, you can help more people get the screening they need for a proper diagnosis as early as possible and perhaps most importantly, your story can help more families learn that they are not alone and that there is support available for the emotional, financial, or medical issues they might be facing. Raising awareness also helps leaders in government, industry, and research to better understand our needs and develop policies or research studies that can lead to better support and more hope for patients and families in the years ahead. Your story can also help shine light on our mission at NNPDF and help more people to connect with our information and services.

As we plan make the most of Rare Disease Day, we also emphasize that NNPDF is dedicated to raising awareness every day to make sure our community has the support it needs. We continue to expand our support services to bring more resources to both patients and caregivers each year. We are in contact with regulators and industry leaders to ensure we bring them new insights on ways to support our community. We will also support new research that can highlight all of the important issues that affect patients and caregivers. And as always, we continue to fight for research that can lead to new treatments and will not stop until ALL people impacted by ALL types of Niemann-Pick disease have access to the therapies they need.

We hope you will join us in our efforts to raise awareness in 2023 and send our best wishes to you and your family at the start of this new year.

Sincerely,
Joslyn Crowe,
NNPDF Executive Director

Rare Disease Week on Capitol Hill Advocacy Stipend

Rare Disease Week on Capitol Hill events will be taking place from February 28 – March 2, 2023 in Washington, DC. NNPDF is offering a limited number of NNPDF Advocacy Stipends for Niemann-Pick individuals, caregivers, or family members to attend! Complete details can be found here.

Rare Disease Week on Capitol Hill brings together rare disease community members from across the country to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators.

Visit everylifefoundation.org for Rare Disease Week on Capitol Hill information on:

Now more than ever, it’s important for Niemann-Pick families to communicate our priorities and concerns to decision-makers and leaders!

Community Meeting with Azafaros

NNPDF and NTSAD invite you to join us for a Community Meeting with Azafaros to learn more about their Phase 2 multi-national trial for AZ-3102 in Niemann-Pick Disease Type C and GM2 Gangliosidosis on Wednesday, February 8th at 8:00pm ET. Speakers include Daniel Mitroi, MD, Regional Medical Director, Azafaros.

Register to attend.

AZ-3102 is a therapeutic candidate developed for people affected by Lysosomal Storage Disorders (LSDs) with neurological involvement. Azafaros B.V. recently received Investigational New Drug (IND) clearance from the United States Food and Drug Administration (FDA) earlier this month, to conduct a clinical Phase 2 trial for its lead asset, AZ-3102, which is being investigated for the treatment of neurological symptoms of Niemann-Pick disease type C (NP-C) and GM2 gangliosidosis (GM2).

Rare & Ready Advocacy Bootcamp

Please join Rare & Ready: A Genetic Condition Coalition for a 90-minute Advocacy Bootcamp on Tuesday, February 7, at 12:30 pm ET. All diagnosed individuals and family members are invited to attend this free webinar!

Jennifer Hitchon and Ken Sprague, Government Affairs at BioMarin, will share information on state policies important to the rare disease community.

You will learn:

How to communicate with your state legislator
How to use social media effectively
Advocacy strategies to help you navigate policy hurdles

NNPDF is a member of the Rare & Ready Coalition.

Pre-registration is required. Learn more.

Courageous Parents Network Virtual Workshop

Courageous Parents Network invites you to join their upcoming virtual workshop: Managing Caregiving Stress as a Couple on Wednesday, February 15th at 8:00 pm ET

All relationships face stress, but partners caring for a child with a serious illness are confronted with unique challenges. Dr. Talia Zaider, a licensed psychologist and marriage and family therapist, will offer insights and considerations for coping together. Register today!

The workshop is free and we hope you will take advantage of this offering.

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.

Participate by providing us your Health Care Heroes’ information by February 20th.

Coming Soon...

Acid Sphingomyelinase Deficiency (ASMD) Patient Experience with Olipudase Alfa Survey

The International Niemann-Pick Disease Registry (INPDR) is conducting this survey in collaboration with The National Niemann-Pick Disease Foundation, Inc. (NNPDF), International Niemann-Pick Disease Alliance (INPDA), and Niemann-Pick UK (NPUK). This survey forms part of a larger study that includes interviews with Niemann-Pick disease type A/B and type B (ASMD) patients, which will explore the questions in this survey in more depth.

Survey information will be released shortly by eblast and on our website or contact nnpdf@nnpdf.org to participate.

Milestones

Do you have a special milestone to share? Send us a photo along with the details to nnpdf@nnpdf.org and we’ll publish in an upcoming newsletter!

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.

Bringing Holiday Cheer Update

Twenty-six 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 200 items for our families. Thank you again for providing much joy to our families.

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AmazonSmile Ends February 20th

AmazonSmile has made an impact in our community by donating over $6000 to NNPDF since it started thanks to those of you who signed on to their giving program. Unfortunately we’ve been informed that the AmazonSmile program will be ending February 20th. Please continue to support this program until then. We like to thank all those that contributed to NNPDF through the AmazonSmile charity 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, including:

Prescription drugs (copays, deductibles, and coinsurance)
Health insurance premiums
Therapy administration costs
Disease management (such as prescribing-physician copayments), treatment-related travel costs, and genetic testing

Learn more about The Financial Assistance program.

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.

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 Azafaros:
Azafaros receives FDA IND clearance and Fast Track Designation for its lead asset AZ-3102 for treatment of Niemann-Pick disease type C (NPC). Read complete announcement.

Azafaros announces organizational changes within the company. Read press release.

Updates from Cyclo Therapeutics:
Cyclo Therapeutics’ January 2023 newsletter is live. Scott Fine, CEO shares an update on their ongoing Phase 3 study, TransportNPC™ and a recap of key activities delivered last year. Read more.

Cyclo Therapeutics provides clinical program update and highlights recent achievements. Read complete update.

Community News Updates

Updates from KemPharm:
KemPharm demonstrates its continuing commitment to the Niemann-Pick Community with recent leadership changes. Read press release.

KemPharm announces board and leadership changes to support its transformation into a leading rare disease company. Read complete announcement.

KemPharm announces the promotions of Sven Guenther, PhD, to Chief Scientific Officer and Christal Mickle, MA, to Chief Product Development Officer. Read press release.

Update from Cyclo Therapeutics: Cyclo Therapeutics has announced its abstract has been accepted for poster presentation at the Society for Inherited Metabolic Disorders (SIMD) 44th Annual Meeting regarding TransportNPC. 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.

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!

THANK YOU to Amanda Stephens, Kasey Apt, Rick Alan, Jessica Stull, Haley Coulter Wilson, Kathleen Margaret, and Kit Neal Hensler who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! 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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Supporting one another. Supporting our community.

November-December 2022 Newsletter

Newsletters

Message from the Executive Director and Board Chair

Dear NNPDF Community,

It is hard to believe that we are just weeks away from the end of 2022. And once again this has been a monumental year with many important developments for our community. We are very pleased to have this opportunity to wish you and your family all the best for the New Year and to reflect on some of the important events of 2022.

Heading into 2023, NNPDF will work to expand our efforts and build on the momentum in 2022 in many new ways. We will continue to support and participate in research initiatives and other programs that can help leaders in government, industry, and advocacy better understand the impact of Niemann-Pick disease. We will continue to work with regulators to encourage them to consider the essential new approaches in clinical research that can lead to more new treatments in the years ahead. We also remain committed to fighting for access to treatment for the entire community and will not stop until ALL people affected by ALL types of Niemann-Pick disease have access to life-changing therapies. As the Niemann-Pick landscape changes and treatments do become available, we will also expand support to help families manage issues related to insurance, working with their providers, and life planning.

End-of-year is also a great time to recognize the many examples of strength and determination from our community and thank all the people – healthcare leaders, patients, families, researchers, donors, and industry partners – who supported our work at NNPDF. As we look back on the year, we are so encouraged by the amazing commitment of so many members of our community. We might be small, but we are mighty. The last year has shown us what is possible when we stay strong and work together.

Thank you again for your continued support. We are confident that in 2023 we will break many more barriers and reach new levels of change for the community. The battle is not over, but there is more hope on the horizon than ever before.

From all of us at NNPDF, have a safe and happy holiday.

Sincerely,
Joslyn Crowe, NNPDF Executive Director
Becky McGuire, NNPDF Board Chair

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.

The Benefits of Having a Great Local Care

Most patients and families in the Niemann-Pick community are too familiar with the need to travel to access the specialized medical care they need. Among our many services at NNPDF, patients often turn to us to find hospitals and doctors that have specific experience in treating Niemann-Pick disorders… Check out our latest blog post entitled The Benefits of Having a Great Local Care Team.

Dangerous Blues by Stephen Policoff

Congratulations to Stephen Policoff, Niemann-Pick community member, on his recently published book Dangerous Blues. Stephen has generously cited NNPDF as the organization to which he wishes to donate a percentage of the royalties. Steven’s daughter Anna lost her battle in 2015 of NPC-related causes. This novel is dedicated to Anna and to his wife Kate, who also passed away in 2012.

Gift Ideas Supporting the NNPDF

Looking for a gift idea? Check out our Books and Publications webpage. Here you’ll find books authored by Niemann-Pick community members who have expressed themselves in books or other publications. Also included are books by authors that help raise awareness of Niemann-Pick Disease.

Shop AmazonSmile for the Holidays

When you shop AmazonSmile this holiday season, be sure to designate National Niemann-Pick Disease Foundation as your favorite charity! It’s an easy way to make an impact for Niemann-Pick families. Shop AmazonSmile and Amazon will donate to the NNPDF. It’s easy! Learn more and sign up. You shop. Amazon gives.

NPC Survey Opportunity

Quality of life experience in patients with Niemann-Pick disease Type C during the COVID-19 pandemic

Are you an adult who has been diagnosed with Niemann-Pick disease type C (NPC) or the parent/caregiver of someone who has been diagnosed with NPC? If so, we would like to invite you to take part in our research study looking at quality of life in those with NPC. Learn more about this study.

Research reminder from Wylder Nation and NNPDF

Wylder Nation and NNPDF are still enrolling 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.

NPC Sibling Study

NNDPF, APMRF, Firefly Fund, and NP Canada have chosen to partner with the International Niemann-Pick Disease Registry (INPDR) moving forward and to continue the NPC sibling study through the INPDR. The INPDR is the Niemann-Pick specific patient registry which is led and governed by the Niemann-Pick community. We are recommending that all NPC families who have shared their loved one’s data with AllStripes have their data transferred to INPDR. This is completely voluntary and each family’s decision is respected. We have worked with AllStripes and the INPDR to ensure that this is a user-friendly and fairly simple process for families.

For information on how to easily share you loved one’s records with the INPDR, or if you have any questions, please contact us at nnpdf@nnpdf.org.

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 Ltd. is pleased to confirm that it has completed recruitment for its Pivotal Trial, Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study (IB1001-301). Read the complete announcement.

Update from IntraBio: IntraBio Ltd. is pleased to share that IB1001-301 has enrolled over 70% of the target number of patients in the second month of recruitment. Recruitment is expected to be completed by December 2022. Read the complete announcement.

Community News Updates

Update from Mandos Health: Mandos Health has shared the following November 2022 update with the NNPDF. Read the complete update.

Update from KemPharm: KemPharm has shared the following news release with the NNPDF, reporting their third quarter 2022 results. Read news release.

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!

THANK YOU to Julie Patenaude, Kit Neal Hensler, Charlotte Gibier, Jeff Padden, Donna Norberg, Joyce Gurtatowski, JoAnn Williamson, and Anne OConnor-Smith who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! 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. Current surveys and studies are listed below. 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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Supporting one another. Supporting our community.

October 2022 Newsletter

Newsletters

Niemann-Pick Awareness Month

Thank you to every #NiemannPickChampion for helping us continue to raise awareness of Niemann-Pick disease this October! Together, your voices amplify our efforts to change the course of this rare disease. Thank you for supporting NNPDF!

Niemann-Pick Awareness Month

#NiemannPickChampion

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NNPDF In Action

Joslyn Crowe, NNPDF Executive Director and Kari Lato, NNPDF Board of Directors at the 2022 NORD Rare Summit. NNPDF is a member of the Rare & Ready Coalition.

Joslyn Crowe, NNPDF Executive Director with Sanofi’s Eric Racine, Vice President & US Country Head, Public Affairs & Patient Advocacy at Sanofi, and Stephen Meunier, Head of US Public Affairs & Patient Advocacy for Rare Disease, at Sanofi’s Patient Advocacy Council in Washington DC.

Joslyn Crowe with the Sanofi team at NORD Rare Summit viewing their poster on Survival of Patients with Acid Sphingomyelinase Deficiency in the United States: A Retrospective Real-World Study.

Celebrating #NiemannPickChampions during Niemann-Pick Awareness Month

As we celebrate Niemann-Pick Awareness Month this October, the National Niemann-Pick Disease Foundation will use this important observation to highlight and recognize many of the significant accomplishments achieved by members of our community over the last year. We can take this opportunity to recognize so many of our “Niemann-Pick Champions,” including heroic efforts by patients, caregivers, researchers, clinicians, and advocates who have contributed to making a positive difference in many ways. Champions from our community have helped us make historic progress in research and efforts to build awareness. So many have joined in efforts to help others. Our Champions are reaffirming our commitment to fighting for more treatments and services to support ALL people impacted by ALL types of Niemann-Pick disease and are continuing the fight to make access to care possible for everyone living with Niemann Pick disease. Read complete article.

Global Niemann-Pick Disease Awareness Day: The International Fight Continues

By Joslyn Crowe

Each year on the 19th of October the National Niemann-Pick Disease Foundation joins with the global community of patients, parents, caregivers, clinicians, and researchers in recognizing Global Niemann-Pick Disease Awareness Day. This day represents an international effort to build broader awareness of the impact this disease has on patients and families and is an important opportunity for all of us to join forces and raise our voices to highlight the issues affecting our community in countries around the world. It is also a time to reflect on the progress and challenges of the past year and to think critically about how we can all work together to have an even bigger impact in the coming years. As we celebrate the progress made in the past year, we can also reinforce our commitment to ensuring that ALL people impacted by ALL types of Niemann-Pick in ALL parts of the world have access to treatments, services and programs that can make a positive impact on their lives. Read complete article.

Bringing Holiday Cheer

NNPDF is fortunate to share that an anonymous donor has offered to help make the holidays a little brighter for Niemann-Pick Families! Our donor family wishes to help ease the burden of Holiday stress while promoting family togetherness and enjoyment by helping to bring some cheer to your family by providing wish list items. All NNPDF members residing in the US are eligible to submit an application to be considered for funding for the Bringing Holiday Cheer program. Application deadline is Friday, November 18th at 5pm ET. Click here for complete details.

Travis Obermeyer

Dad to Austin, ASMD
NNPDF Board of Directors

Tell us a bit about yourself.
Our family lives in the beautiful mountains of the Blue Ridge in North Carolina. We enjoy walking at the park, watching sports and spending time together on the Blue Ridge Parkway. Our vacation of choice is camping, as we love the solitude of being in God’s nature.

When did you receive Austin’s diagnosis and what led to this?
Austin’s pediatrician first noticed there was something off during his 15-month checkup when his liver was enlarged. Susan and I took Austin to the hospital that night for a series of tests with initial thought of Leukemia. All these tests were negative. After 6 months of further blood tests, ultrasounds, liver biopsy, enzyme tests etc., it was initially determined that he had Gaucher disease. However, upon further examination it was later confirmed to be ASMD (type B).

How did you learn about NNPDF?
We first learned about NNPDF through our geneticist at the time. Our family was lucky that she had trained under Dr. Wasserstein in NY and was familiar with ASMD in many facets.

What led you to get involved with NNPDF as a family and recently, as a Board Member?
I believe that as a parent you are the best advocate for your family and children’s well-being. Naturally that progresses to getting involved as much as possible and help any way to find new treatments/cures for the disease. I am a parent first and I want to fight and have a voice for Austin and other boys/girls and men/women that cannot fight for themselves.

How has being an NNPDF member supported your family?
NNPDF has helped our family most by creating connections. Connections with pertinent and accurate information. Connections with providers of treatment. Connections with other families going through similar circumstances.

What advice would you share with newly diagnosed families?
Dive in and learn about the disease as much as possible. Ask questions, no question is a bad question, we have all been in the same situation you are in. Again, as I said before, as a family member, friend or diagnosed individual you are your own best advocate. At first you may be overwhelmed with the plethora of information. Focus on what is important to you and reach out to NNPDF and connect with other families.

What are your hopes for the future for your family and for the Niemann-Pick community?
Ultimately, I am hopeful that NNPDF will continue to be instrumental in fostering the discovery of new treatments/cures for ASMD and NPC.

Research reminder from Wylder Nation and NNPDF

Wylder Nation and NNPDF are still enrolling 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.

Pfrieger's Digest

NNPDF is pleased to share the latest edition of Pfrieger’s Digest, written by Frank Pfrieger, PhD of Niemann-Pick Selbsthiifegruppe (Germany). This publication provides a summary of research advances based on selected peer-reviewed publications in scientific journals. Read the latest issue.

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 Cyclo Therapeutics: Cyclo Therapeutics announces the publication of Phase 1 data for Trappsol® Cyclo™ for the treatment of Niemann-Pick Disease type C1. Read complete update.

Update from IntraBio: IntraBio Ltd. is pleased to confirm the Phase III pivotal trial with N-acetyl-L-leucine (IB1001-301) is active and recruiting in the United States at the Mayo Clinic, MN. 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.

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!

THANK YOU to Krissy Florkiewicz, KayLa Miller, Sherri Sykes Lewis, and Kevin Xie who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! 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. Current surveys and studies are listed below. 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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Supporting one another. Supporting our community.

September 2022 Newsletter

Newsletters

Message from the Executive Director

Who’s your #NiemannPickChampion?

October is Niemann-Pick Awareness Month! These next few weeks are an especially important time to tell your family stories on your experiences with Niemann-Pick Disease. Show everyone who’s your #NiemannPickChampion! There is no better time to increase awareness of Niemann-Pick Disease and to educate friends, policy makers, clinicians, and others about this rare disease.

The Niemann-Pick community is filled with champions – champions impacted by this disease everyday, fighting for approved treatments, working towards a cure, and champions keeping the memories of those who have passed.

Over the course of the month, we will offer a range of activities to highlight the community’s #NiemannPickChampion(s) and to promote Niemann-Pick awareness through educational information and social media posts you can share, virtual forums to connect with NNDPF staff and Board members for community conversations, awareness events with our pharmaceutical partners, and of course, we will join with our INPDA partners on October 19th for Global Niemann-Pick Awareness day.

Receiving a rare disease diagnosis can be a devastating and emotional experience. NNPDF is dedicated to an enduring patient support community that embodies strength, hope and empathy for those affected by all Niemann-Pick disease types. We work tirelessly to support and advocate for access to treatments and supports that can make a positive difference in helping affected individuals and caregivers manage a wide range of emotional, financial, and medical challenges. Through our work, families know they are not alone and that an entire community of caring people is standing alongside them in their journey.

For over 30 years, NNPDF has been a leader in advocating for the needs of all members of the Niemann-Pick community, in support of every #NiemannPickChampion, by connecting our voice with leaders in research, industry, and government at every level who can help make a significant difference in the lives of those impacted by Niemann-Pick disease. The battle continues, but we will never give up the fight.

Warm Regards,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

Niemann-Pick Awareness Month

October is Niemann-Pick Awareness Month! Support One Another and Support Your Community by raising awareness and educating others about Niemann-Pick Disease in your community. 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!

This month we want you to share your #NiemannPickChampion! Learn how to use our template to make and share your Niemann-Pick Champion and make your own social profile frame to show your support of your Niemann-Pick community.

Visit Niemann-Pick Awareness Month webpage to learn more about how you can be an advocate for those affected by Niemann-Pick disease by spreading awareness in your own community.

Community Connection Opportunities

Connect with NNPDF Families, Board of Directors, and Family Services Manager, Laurie Turner during Niemann-Pick Awareness Month. NNPDF will be hosting several options for gathering and connecting virtually starting on October 5th!

Please join us for Coffee and Catching Up and Community Connections: Catching Up virtual gatherings. We look forward to sharing time together – to take a break and reconnect with other Niemann-Pick community members. Be sure to register in advance.

Family Support & Medical Conference Recordings & Photos

THANK YOU to all that joined us in-person and virtually for our 30th Annual Family Support & Medical Conference! We were so happy to see all your smiling faces. It was a wonderful time of sharing, supporting and learning.

For those that were unable to join the conference or if you’d like a review, the 2022 family conference recordings and photos are now available.

Our Family Support & Medical Conference was a success due to many supporters: from our sponsors and speakers, to our board, staff and volunteers. We THANK YOU for all that you have done to support our family conference.

Cyclo Therapeutics Patient Newsletter

Featuring the Powerful Story of Dee Reynolds

Cyclo Therapeutics’ recently published their patient newsletter featuring Dee and Dan Reynolds. Dee was diagnosed with NPC when she was in her 40s after many years of unexplained symptoms. She and her husband Dan are very well-known advocates – and friends – in the Niemann-Pick community. Here they answer some questions about receiving a diagnosis of NPC later in life and give some advice to families who may have similar journeys. Thank you for sharing your story.

Orphanet Publication Alert!

Our peer-reviewed journal article titled “Health insurance literacy and health access barriers in Niemann-Pick disease: the patient and caregiver voice” was recently published in Orphanet. NNPDF were co-authors on this publication along with Dr. George Diaz based on the large research study we completed previously. Perfect timing in the same week as Xenpozyme’s FDA approval for the treatment of ASMD!

This publication will be a useful resource for payers and decision makers as we look to ensure availability, access, and reimbursement for Xenpozyme now, as well as in the future for our NPC therapies.

ASMD Accelerate is Still Enrolling!

Wylder Nation and NNPDF are still enrolling 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.

LinkedIn Pulse: US Approval of Xenpozyme

NNPDF Celebrates Monumental Milestone with the First U.S. Approval for ASMD: The National Niemann-Pick Disease Foundation joins with patients and families in the U.S. and the entire global Niemann-Pick community in celebrating this historic advance in research: the first-ever U.S. approval of a treatment for ASMD! For more than 20 years, NNPDF has worked to support patients and families impacted by ASMD (acid sphingomyelinase deficiency) by raising awareness and advocating for research that can lead to life-changing therapies. Read complete article.

CheckRare: FDA Approves Olipudase Alfa

FDA Approves Olipudase Alfa To Treat Acid Sphingomyelinase Deficiency in Both Children and Adults: The U.S. Food and Drug Administration (FDA) has approved olipudase alfa for intravenous infusion in pediatric and adult patients with Acid Sphingomyelinase Deficiency (ASMD).

ASMD is an autosomal recessive genetic disorder caused by mutations in the SMPD1 gene. That gene encodes for acid sphingomyelinase (ASM), an enzyme that metabolizes sphingomyelin. ASMD is also knows as Niemann-Pick disease types A, A/B, and B. Olipudasae alfa is an enzyme replacement therapy designed to replace the deficient or defective ASM. Read complete article.

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!

Bowie Baysox Benefit

THANK YOU to the friends and family of Mark and Darrile Papier who recently hosted their 16th Annual Bowie Baysox Benefit in memory of their son Dillon. The Baysox Benefit was a success with lots of raffle baskets, jewelry, gift certificates, food, and very exciting game finale with the Baysox losing until the last batter blasted a walk off homerun scoring 2 to win the game! A special guest in attendance – Liam Ferguson – was surprised with throwing the first pitch before Mark Papier.

THANK YOU to Stacy Stemmerman, Lane Hemsley, Stacy Tillotta, Vera Stricklin, Natalie Johnson, Kevin Nettesheim and Larissa Ross who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

Social Services Resource

The journey with those affected by Niemann-Pick disease can be long and complex with caregivers wearing multiple hats. Little Hercules has provided a tool to search for national, state, regional, private, and public programs that can help you with whatever you need. Search for free or reduced cost services like medical care, co-pay assistance, food, utility assistance, transportation, disability programs, and more. Start your search by entering your zip code. Visit littlehercules.auntbertha.com for more information.

Contact Laurie Turner at familyservices@nnpdf.org for any questions.

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. Current surveys and studies are listed below. 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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Supporting one another. Supporting our community.

Summer 2022 Newsletter

Newsletters

APPROVAL!!

Xenpozyme (olipudase alfa) for Treatment of ASMD

We are pleased to share the U.S. Food and Drug Administration (FDA) has approved Xenpozyme™ (olipudase alfa-rpcp) for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients! Xenpozyme is the first therapy indicated specifically for the treatment of ASMD, and is currently the only approved treatment for this disease.

This has been a long road and the ASMD community played a vital and persistent role in bringing this medicine through the trials process and to an approval. We are incredibly pleased that we now have a first approved medicine in the Niemann-Pick community.

Read Sanofi press release.
Read FDA press release.

Community Update Series presents: Xenpozyme (olipudase alfa) update with Sanofi’s Patient Supports Services

Join us for a community meeting with Sanofi’s Patient Supports Services as they share more information regarding the approval of Xenpozyme treatment of ASMD.

Wednesday, September 7th, 2022
8:00 pm ET
Join Zoom Meeting

Message from the Board Chair

Dear, NNPDF Community,

As the conference came to a close this year, I was reminded of the strength of our community yet again. Our community gathered in-person and virtually during this year’s conference and I could not be prouder of our PERSEVERENCE through all that our community has faced in the past year. Our conference not only symbolized but brought to life the endurance and insurmountable strength of who we are when we are all together. We support each other and support our community. Thank you to all who participated, from our families, our clinicians, researchers, scientists, and sponsors.

Thank you for the incredible moments at our conference, from pointed questions, extraordinary feedback, love shared, siblings uniting, and dance moves like no one was watching. It was an honor hosting the INDPA. Partnership and strategy are at the forefront of everyone’s intentions and execution of initiatives. Thank you to all for the conference, it was not only informative for so many, but collaborative and just downright refreshing to see old friends and new.

The momentum from the conference has continued on in the work that we do. We have collaborated with industry and families to elevate our voices and we will keep our eyes on all that our families face and how we can help. My wish, as I start my tenure as Board Chair, is to continue the trajectory of the foundation with an incredible board and staff. Our voices and our community have come so far and we still have a long way to go, but I have faith that our efforts combined are going to impact the lives of our loved ones now and in the future.

The recordings will be available in the upcoming weeks. We hope that you were able to joyfully connect, meet new families, reconnect with friends, and truly live in this journey knowing that you are supported and loved by us all. We say it often, but it never loses its power, we may not be the family you ever wanted to have, but we are the family that will never leave your side. No matter where you are on this journey, your voice will be heard, you have us to lean on, and we remain founded in our roots. We believe deeply in the future of research that promotes clinical treatments with potential to improve patient quality of life and with intent to ultimately treat and cure all Niemann-Pick disease types.

Warm Regards,

Becky McGuire
NNPDF Board Chair

NNPDF Family Support & Medical Conference

THANK YOU to all that joined us in Orlando and virtually for the 30th Annual Family Support & Medical Conference. We were so happy to meet with you in person! New friendships and connections were made, we learned more about each other, and how we can help one another to grow as a community in the US and abroad.

In the upcoming days we will be sharing links to the LiveStream sessions and photos of the event.

Thank You to our Family Support & Medical Conference Sponsors

NNPDF Award Recipients

We are honored to present our 2022 award recipients! Thank you for the impact you have in the Niemann-Pick community and your chosen career paths. Congratulations!

Persevere Award

Dr. Ed Schuchman

NNPDF Cora Sterling
Endurance Award

Christopher Sousa

Joele Ruppert & Joseph Colton
ASMD Scholarship

Yasmin Markman

Joele Ruppert & Joseph Colton
ASMD Scholarship

Jack Visoky

NNPDF 2022 Board of Directors

We are honored to present your 2022 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: Becky McGuire (Board Chair), Paul Merrigan, Travis Obermeyer, Cara Gilmore, Anthony Leoni, and Kari Lato. BACK ROW: Joslyn Crowe (Executive Director), Gail Koujaian, Taylor Sabky, Mary Francis Harmon, Liz Heinze (Vice Chair), Meghann Ferguson (Secretary), and Mike Smith (Treasurer).

NNPDF Welcomes New Board Members

We are proud to welcome the following incoming Board Members to the NNPDF team: Gail Koujaian, Travis Obermeyer, and Taylor Sabky. Learn more about them.

Gail Koujaian
Mother of Alec,
and Hayley (In Memory), NPC

Travis Obermeyer
Father of Austin, ASMD

Taylor Sabky
Mother of Purnell
(In Memory), ASMD

Duke-Margolis Center Webinar

On August 4th, the FDA and Duke Margolis Center for Health Policy held a webinar on Endpoint Considerations to Facilitate Drug Development for Niemann-Pick Type C which discussed key themes from the January 2022 public workshop. Discussion included a review of challenges, and opportunities for endpoint selections in NPC to support product development.

The recording for this webinar is available here.

This discussion was focused on a longer-term view of drug development including the importance of biomarkers and endpoints in NPC drug development. NNPDF recognizes the importance of these scientific areas and will continue to work in partnership with all NPC community organizations and foundations to assist with biomarker development. Our goal as a national patient organization is to ensure that we simultaneously continue to ensure attention and focus on our investigational therapies currently in development and continue to find paths to move to approved therapies expediently.

It’s not too late to join ASMD Accelerate!

Join ASMD Accelerate to support the ASMD research community and improve care! Thank you to the 15 families who have contributed their child’s de-identified medical data in support of ASMD research. We are 60% of the way to our goal and still enrolling for this incredibly important study. Your help can shape the future of ASMD care.

Signing up for ASMD Accelerate takes less than 10 minutes and PicnicHealth will do the hard work of collecting your child’s records on your behalf. Enroll today by visiting picnichealth.com/asmd-wylder-nation or email asmdstudy@picnichealth.com with any questions.

AllStripes Update

AllStripes recently informed NPC families that with deep regret they will no longer be supporting the NPC Sibling Study. In response to broader economic downturn, AllStripes is reprioritizing its resources so that they may continue to sustainably support rare disease research. Unfortunately, this means that they cannot continue resourcing several studies, including the NPC sibling study.

We (NNDPF, APRMF, Firefly Fund, and NP Canada) have chosen to partner with the International Niemann-Pick Disease Registry (INPDR) moving forward and to continue the NPC sibling study through the INPDR. The INPDR is the Niemann-Pick specific patient registry which is led and governed by the Niemann-Pick community. We are recommending that all NPC families who have shared their loved one’s data with AllStripes have their data transferred to INPDR. This is completely voluntary and each family’s decision is respected. We have worked with AllStripes and the INPDR to ensure that this is a user-friendly and fairly simple process for families.

For information on how to share you loved one’s records with the INPDR, or if you have any questions, please contact us at nnpdf@nnpdf.org.

Virtual Roundtable Discussion of the ACT for ALS Bill

In July 2022 NNPDF held a roundtable discussion on the Accelerating Access to Critical Treatments for ALS ACT, which is designed offer grants and other financial incentives to support expanded access programs in ALS and other rare neurodegenerative diseases. The forum included 15 U.S. organizations focused on rare neurodegenerative diseases.

A panel of experts provided an overview of the bill including the FDA Action Plan and the Grant Program.

Top findings include:

A need to bring representatives from CDER, CBER, and other divisions at the FDA to establish consistency between Centers and form a predictable path for drug development.
The option to consider alternatives to placebo trials in ALS.
Calls for higher levels of funding.
NIH Grant applications are open now for ALS with notification in Sept 2022.

NNPDF will continue to host these forums, our actions for next steps include:

A series of quarterly discussions to continue to invite community perspectives on program execution.
Updates on the logistics of the FDA Grants Program as they become available.
Review of the benefits of a new alliance of organizations in rare neurodegenerative diseases to represent community interests with a stronger voice.

NNPDF In Action

Evren Ayik, and Justin and Garrett Hopkin attend Sanofi’s 2022 TORCH Awards in Cambridge, Massachusetts.

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 Sanofi: We are pleased to share the U.S. Food and Drug Administration (FDA) has approved Xenpozyme™ (olipudase alfa-rpcp) for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients! Xenpozyme is the first therapy indicated specifically for the treatment of ASMD, and is currently the only approved treatment for this disease.

This has been a long road and the ASMD community played a vital and persistent role in bringing this medicine through the trials process and to an approval. We are incredibly pleased that we now have a first approved medicine in the Niemann-Pick community.
Read Sanofi press release.
Read FDA press release.
Read Xenpozyme press release.

Update from Sanofi: European Approval! News from Sanofi on Xenpozyme (olipudase alfa): “Xenpozyme® (olipudase alfa) approved by European Commission as first and only treatment for ASMD”. The European Commission (EC) has approved Xenpozyme® (olipudase alfa) as the first and only enzyme replacement therapy for the treatment of non-Central Nervous System (CNS) manifestations of Acid Sphingomyelinase Deficiency (ASMD) in pediatric and adult patients with ASMD type A/B or ASMD type B. Read the press release.

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.

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!

THANK YOU to Stacy Stemmerman, Lane Hemsley, Stacy Tillotta, Vera Stricklin, and Natalie Johnson who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! 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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Supporting one another. Supporting our community.

June 2022 Newsletter

Newsletters

Message from the Board Chair

Dear NNPDF Community,

Over the past several months, our NNPDF staff and volunteers have had our eyes on the end of July, hopeful that the world will be in a place where we can all come together safely to meet in person for the 30th Annual NNPDF Family Support & Medical Conference. Recognizing we all have different levels of comfort with travel and gathering right now, it appears that we are in as good of a place as we could hope for with the meeting only a month away. We are striving to not only make this conference enjoyable and impactful for our entire community but also keep everyone as safe and comfortable as possible. I am deeply appreciative of all those who are working tirelessly to organize this meeting where we can gather, learn, connect, and enjoy. I miss seeing all of you in three dimensions and look forward to catching up in Orlando.

While conference planning has been a key task for the organization over the last few months, the NNPDF remains laser focused on our primary missions of supporting families and advocating for the community. We appreciate your assistance with the feedback many of you have provided through the Community Survey. Your feedback will help us direct services and ensure we remain on course with accomplishing our primary missions 1) advocacy and 2) support for all patients and families throughout their experience with Niemann-Pick Disease.

Our community continues to persevere as we navigate the trials and tribulations of drug development in the rare disease space. While we have had our share of disappointment and frustration, there is hopeful dialogue and encouraging movement toward needed change in clinical trial design and accepted endpoints. We hope this evolution will provide the framework for collaborative engagement with industry and regulators to identify disease-modifying therapies through clinical trials that are designed with patients in mind to more clearly identify safe, effective therapies for Niemann Pick. I’m hopeful that the dialogue from our experts at the conference will continue to move the needle in the right direction.

The conference marks the time of year when we onboard our new board of directors for the NNPDF as other board members complete their terms of service. Our board is a collection of amazing volunteers, and it has been my pleasure to work with them over the last six years to ensure the NNPDF is accomplishing its mission of supporting you. For those of you who attend the conference in person, I invite you to reach out to your NNPDF board members who will be present. They want to hear from you. Please let them know how we are doing and what we can do to better serve you.

In compliance with our bylaws, it is time for me to step off the board. It has been my honor to help lead the Foundation, and I’m very proud of all that our staff, volunteers, and community have accomplished. Our community has come together to create a stronger national patient organization to meet our needs and amplify our voice to key opinion leaders. While there is always work left to be done, I am supremely confident that we are poised to meet those needs. I look forward to continuing my support of NNPDF as I transition off the board over the next several months and plan to remain involved with several key directives including newborn screening, patient registries, and clinical trial design. The transition in board leadership has literally been years in the making, and I’m thrilled that Becky McGuire will be accepting the role of board chair after serving as vice-chair. She has several years of experience on the board, and her strengths in leadership, communication, and fundraising will be great assets for the Foundation and the community. She has an incredibly talented and caring group of board members around her that will foster the continued growth of the foundation and ensure we meet our mission to serve all of you. I could not be more excited about the direction of the organization based on the leadership and staff we have in place.

Warm Regards,

Justin Hopkin, MD
NNPDF Board Chair

NNPDF Family Support & Medical Conference

in Conjunction with INPDA Biennial Meeting

JOINT CONFERENCE DATES: July 28 – July 31, 2022

NNPDF: July 28 – 30 | INPDA: July 29 – July 31

Wyndham Grand Orlando Resort Bonnet Creek | Orlando, FL

Conference Registration

Hotel
Information

Conference Information

Conference Deadlines

Register by June 24th to get your complimentary commemorative conference shirt.
Reserve your hotel by June 27th to receive your hotel accommodations at the discounted group rate. Our special group rate is applicable for the dates of July 23 – August 4, based on availability.

Thank You to our conference Sponsors

LAST CALL: NPC Family Advisory Working Groups

NNPDF will host Family Advisory Working Groups on Thursday, July 28, 2022 from 1:00 pm – 4:00 pm EST, prior to the start of our 30th Annual Family Support & Medical Conference.

Family Advisory Working Groups foster communication between Niemann-Pick families and pharmaceutical & research partners to provide guidance on the patient and family experience. Pre-registration is required.

Family Advisory Working Group participants are eligible for
a 1-night hotel room per family on July 27th (room and tax only)
and up to $350 stipend per participant.

Understanding patient and caregiver perspectives is extremely important to our pharmaceutical industry and research partners working to bring treatments to families. Patients and their families are often the most knowledgeable members of the care team and can offer unique perspectives.

NNPDF Community Survey

We invite you to take part in a brief survey to highlight some of the key issues that are important to members of the Niemann-Pick community. Your responses will help NNPDF develop a better understanding of the issues that are most important to you and your family. Responses will be used to help NNPDF identify the priorities and areas of unmet need in planning for development of new support programs and resources for families at every stage of the Niemann-Pick journey.

In addition to your response, we also invite you to share your thoughts regarding our programs and services and how we can best meet your needs in the months and year ahead. Survey closes on July 4th, 2022.

ASMD Community Survey

As olipudase alfa moves through the regulatory process, we are proactively preparing for the next steps, which include speaking with insurance companies and ensuring reimbursement and coverage for patients across the country. To help us better understand our ASMD population, can you please take a moment to complete the following brief survey? This survey will close on Monday, July 11, 2022.

For assistance or any questions, please contact nnpdf@nnpdf.org.

It’s not too late to join ASMD Accelerate!

Just over a year ago, Wylder Nation and NNPDF partnered together to launch ASMD Accelerate to support the ASMD research community. To date, we’ve had 15 contribute their child’s de-identified medical data in support of ASMD research!

If you are interested in joining ASMD Accelerate and making a difference in the future of ASMD research, we are still enrolling new members.

This research study is a way your child’s journey can contribute to ASMD research without the need for travel, lab testing, or physical record collection coordination. Additionally, if your child’s journey with ASMD has ended this study can help carry on their legacy and contribute to improving the future of ASMD care.

Signing up for ASMD Accelerate takes less than 10 minutes and PicnicHealth will do the hard work of collecting your child’s records on your behalf. Let us know if you have any questions!

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

Duke-Margolis Center Update

Endpoint Considerations to Facilitate Drug Development for NPC Workshop Summary

Duke-Margolis Center has shared an update related to the January workshop on Endpoint Considerations to Facilitate Drug Development for NPC. Your contributions prior to and during the workshop helped ensure that patients and families were at the center of the conversation and that the event was informative for all NPC drug development stakeholders. The workshop summary is now available.

A brief webinar along with the FDA will be held on Thursday, August 4, from 3:00-4:00 pm ET to provide an overview of the key themes and future directions shared during the January 2022 workshop and presented in this newly released workshop summary report.

The webinar is intended to be another touchpoint for NPC drug development stakeholders on this important topic. Stakeholders will be able to submit questions about the workshop summary in advance of the webinar using this form, and we will get to as many as we can in the webinar format. Please note that the webinar is not intended to cover any new content beyond the January workshop and the workshop summary.

Workshop Summary
Webinar Registration
Questions Submission Form

Milestones: Willow Hemsley

Oh Willow… the places you will go. For as long as I can remember I have dreaded the thought of this day. Willow started school today, at an actual school, and rode a bus to and from… Mom may have been a crazy person who followed the bus and was there to make sure her first bus ride went ok and that she got settled into her classroom with her new teacher. With Willow getting ready to go to Kindergarten in the Fall we figured it was best to give summer school a test run to see how she does. As you can tell from the picture, she was very excited!
– Krystal Samuelson

If you have a special milestone to share, send it to us at nnpdf@nnpdf.org and we’ll include it in our newsletter or other communications.

INPDR Poster Presentation on NPC

INPDR recently presented a poster titled “Quality of life in patients with Niemann-Pick disease type C and their carers”. This research study was funded by NNPDF, NPUK, and INPDA. View the poster.

Community News Update

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

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.

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. Current surveys and studies are listed below. Contact Laurie Turner at familyservices@nnpdf.org for any questions.

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!

THANK YOU to the Genesee Regional Bank (GRB) in Rochester, NY and the Vandetta family who recently hosted the “Rock the Bank” fundraiser for NNPDF in a tribute honoring the memory of GRB team member Michael Vandetta and his son, Vinny (ASMD in Memory). GRB’s own house band, Refer with Caution, brought down the house with a show for the ages. Check out a clip from the event on Facebook at t.ly/Vandetta/FB

THANK YOU to Patricia Steiger, Paul Fonseca and April Thompson who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! 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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Supporting one another. Supporting our community.

May 2022 Newsletter

Newsletters

NNPDF Family Support & Medical Conference

in Conjunction with INPDA Biennial Meeting

JOINT CONFERENCE DATES: July 28 – August 1, 2022

NNPDF: July 28 – 30 | INPDA: July 29 – August 1

Wyndham Grand Orlando Resort Bonnet Creek | Orlando, Florida

Conference Registration

Hotel
Information

Conference Information

Conference Deadlines

Conference Registration by June 24th to receive your complimentary 2022 Family Conference shirt
Hotel Reservations by June 27th to receive the NNPDF hotel group rate
Online Registration by July 22nd on site registration will be available

DEADLINES APPROACHING!

NNPDF Cora Sterling Endurance Award

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. Nomination deadline is May 31st.

NNPDF Research Fellowship Applications

NNPDF is accepting Research Fellowship Applications. The Peter G. Pentchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick Disease.

Niemann-Pick Disease research is one of the pillars of our mission and we are proud that since 1993, NNPDF has funded 52 grants and 20 fellowships totaling over $4,000,000. Many former grantees and fellows have remained active contributors in the Niemann-Pick Disease space. Contact nnpdf@nnpdf.org with questions. Application deadline is June 1st.

INPDA - ASMD Webinar Recording Available

We are pleased to share the collaborative webinar recording entitled The impacts of olipudase alfa on pediatric patients with ASMD and their families: Results of an international survey. The webinar was hosted by the INPDA, INPDR, NNPDF, and NPUK.

Thank you to those that joined us, and to our featured speakers; Sandy Cowie, President, International Niemann-Pick Disease Alliance (INPDA), Conan Donnelly, CEO, International Niemann-Pick Disease Registry (INPDR), and Justin Hopkin, Chair, National Niemann-Pick Disease Foundation (NNPDF).

Watch the recording.
View the slideshow presentation.

Join ASMD Accelerate, Help Change the Future of ASMD Care

Just over a year ago, Wylder Nation, NNPDF, and PicnicHealth launched ASMD Accelerate to help support the ASMD research community. Thank you so much to the 15 families who have contributed their child’s de-identified medical data in support of ASMD research! Every child’s story can make a difference for the future of ASMD care.

If you are interested in joining ASMD Accelerate and making a difference in the future of ASMD research, we are still enrolling new members! This research study is a way your child’s journey can contribute to ASMD research without the need for travel, lab testing, or physical record collection coordination. Additionally, if your child’s journey with ASMD has ended this study can help carry on their legacy and contribute to improving the future of ASMD care.

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

Join ASMD Accelerate.

Pfrieger's Digest

NNPDF is pleased to share the latest edition of Pfrieger’s Digest, written by Frank Pfrieger, PhD of Niemann-Pick Selbsthiifegruppe (Germany). This publication provides a summary of research advances based on selected peer-reviewed publications in scientific journals. Read the latest issue.

Transport NPC

Cyclo Therapeutics’ May newsletter is live and shares a new column with you called “Powerful Patient Advocates.” This month features an interview with Barbara Lazarus. Read the newsletter.

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 Orphazyme: Orphazyme announces update on in-court restructuring proceedings. NNPDF has received the following press release which speaks to the progress the team has made in finding a potential path forward for arimoclomol. Read the press release.

Community News Update

Update from Orphazyme:
Orphazyme to sell to KemPharm, Inc.: NNPDF has received the following news from Orphazyme: Orphazyme A/S under In-Court-Restructuring to sell substantially all of its assets and business activities to KemPharm, Inc.
Read Orphazyme press release.
Read KemPharm press release.

We will continue to keep you informed as more information is available. If you have any questions, please contact Joslyn Crowe, NNPDF Executive Director, at jcrowe@nnpdf.org.

Update from Cyclo Therapeutics:
Cyclo Therapeutics has shared the following letter to the NPC community. Read the letter.

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. Current surveys and studies are listed below. Contact Laurie Turner at familyservices@nnpdf.org for any questions.

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!

THANK YOU to Claudia Rae and Allison Reiter who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! 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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.

Category: Newsletters

Newsletters

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

Early Bird Registration Discounts

Register by May 15th

NNPDF Cora Sterling Endurance Award

Nomination Deadline May 15th

Joele Ruppert & Joseph Colton ASMD Scholarship

Application Deadline May 15th

NNPDF Family Advisory Working Groups

Application Deadline May 31st

Conference Accommodations

Reserve by June 15th

Conference Scholarships

Supporting the Niemann-Pick Community in an era where treatments are possible

Navigating Together: Moms of Adults Diagnosed with NPC

Invisible Interviews "Alec's Story"

NNPDF In Action

Family Assistance & Support Program

The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolism

Help Us Better Understand ASMD Survey

Pfrieger's Digest

Rare Disease Advisory Councils

The Assistance Fund

Comprehensive Care Centers

Fundraising

Clinical Trial Updates

Surveys, Studies, & Market Research

NNPDF Membership

Supporting one another. Supporting our community.

Newsletters

Message from the Board Chair

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

Conference Scholarships

Application Deadline April 1st

Early Bird Registration Discounts

Register by May 15th

NNPDF Family Advisory Working Groups

Application Deadline May 31st

Conference Accommodations

Reserve by June 15th

NNPDF Cora Sterling Endurance Award

Joele Ruppert & Joseph Colton ASMD Scholarship

ASMD Patient Experience with Olipudase Alfa Survey

NNPDF and NTSAD Community Meeting Update

The Impact of Dysarthria

NNPDF Advocacy Update: Interstate Medical Licensure Compact

Courageous Parents Network Virtual Workshop

The Assistance Fund

Fundraising

Clinical Trial Updates

Surveys, Studies, & Market Research

NNPDF Membership

Emergency Hardship Program

Supporting one another. Supporting our community.

Newsletters

NNPDF is Showing our Stripes for Rare Disease Day 2023

Thanking our Niemann-Pick Health Care Heroes

ASMD Patient Experience with Olipudase Alfa Survey

NNPDF Family Support & Medical Conference

July 20 – 22, 2023

Conference Registration | Hotel Reservations | Conference Information

NNPDF Family Advisory Working Groups

Family Conference Scholarships

NNPDF In Action

NNPDF Pop-Up Store NOW OPEN!

Courageous Parents Network Virtual Workshop

Rare Disease Advisory Councils

The Assistance Fund

Fundraising

Clinical Trial Updates

Surveys, Studies, & Market Research

NNPDF Membership

Emergency Hardship Program

Supporting one another. Supporting our community.

Newsletters

Message from the Executive Director

Rare Disease Week on Capitol Hill Advocacy Stipend

Community Meeting with Azafaros

Rare & Ready Advocacy Bootcamp

Shop AmazonSmile for the Holidays