January 2024 Newsletter

Newsletters

Thank You to all that generously supported the NNPDF with your financial gifts in 2023, through donations, family fundraisers, and social media fundraisers. It is through the generosity of donors that we are able to provide vital unmet services to patients and families along their Niemann-Pick journey. Your support matters for our Niemann-Pick families and every dollar makes an impact. We can’t do it without you! Your ongoing commitment to our organization is greatly appreciated.

Rare Disease Day is February 29th!

Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.

Rare Disease Day promotes raising awareness and generating change for the 300 million people worldwide living with a rare disease such as Niemann-Pick, their families and caregivers. YOU can show your support on Rare Disease Day by raising awareness of Niemann-Pick Disease and what it means to be rare. Learn more and get involved!

Bringing Holiday Cheer Update

Thirty-seven NNPDF Community member families had help in making their holidays a little brighter. A heartfelt THANK YOU to our special anonymous donor. This special program aims to help ease the burden of holiday stress, while promoting family togetherness and enjoyment, by helping to bring some cheer to our Niemann-Pick families. NNPDF was able to assist with over 300 items for our families. Thank you again for providing much joy to our families.

Milestones

Congratulations to Alec Koujaian! Alec completed his 249th treatment and celebrated 10 years on Adrabetadex. Alec’s family feels blessed and remain hopeful for drug approval of Adrabetadex in 2024, along with the other NPC drugs looking for approval. Congratulations, Alec!

Abby Alvey is putting on her dancing shoes!! Abby is giving dance class another try after her lower leg botox and serial casting. She tried a little bit smaller of a class and she did amazing. Abby’s family is so proud that she never wants to give up. Thank you Central Virginia Dance Academy. Way to go Abby!

The Lazarus family celebrated 37 years with NPC warrior Daniel Lazarus on January 26th and wish for many more to come! Barb, Daniel’s Mom, expresses that every day is a gift, every year a blessing. Happy Birthday Daniel!!

Dee Reynolds recently celebrated the 36th anniversary of her 29th birthday… (do the math) by taking a cruise to the Caribbean! Happy Birthday Dee!

If you have a special Milestone you’d like to share with your Niemann-Pick community please send us a photo and the details to [email protected].

NNPDF Store

With Rare Disease Day right around the corner did you know our store has some great items to help raise awareness for Niemann-Pick Disease? Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options – available in T-Shirt or Hoodies. Personalization for your family is available.

Order today to get your gear by Rare Disease Day! Be sure to check out our NNPDF apparel and logo items and send us your photos with your new gear!

Allow 2 weeks for delivery. US only.

I Need A Cure for NPD - ASMD - Store Image

Someone I Love Needs a Cure - NPC - Store Image

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

THANK YOU to Ashley Reel and Elsa Angulo who recently held Facebook Fundraisers!

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

ASMD Accelerate Now Enrolling All Forms of ASMD

Comprehensive Care Centers

NNPDF recently added Phoenix Children’s Hospital to our listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from IntraBio: IntraBio Inc. is pleased to share that the New Drug Application (NDA) for N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease type C (NPC) was submitted to the US Food and Drug Administration (FDA) in January 2024. Read the complete update.

Update from Zevra Therapeutics: Zevra Therapeutics has announced the U.S. Food and Drug Administration’s (FDA) acceptance of the resubmission of the New Drug Application (NDA) for arimoclomol for treatment of Niemann-Pick disease type C. Read the complete announcement and Zevra’s message to the Niemann-Pick community below. Read the complete announcement and the message to the community.

The Assistance Fund

Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!

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

Supporting one another. Supporting our community.

December 2023 Newsletter

Newsletters

Message from our Executive Director

Dear NNPDF Community,

As we approach the end of another year, we welcome this opportunity to reflect on the many important advances we have made and to reaffirm our commitment to developing programs and advocating for the best support possible for all people impacted by Niemann-Pick disease.

Throughout 2023, NNPDF has steadfastly supported our community and ensured that all members have access to the resources they need. Through our Navigating Together and Community Connections series, we increased our focus on the importance of making connections and providing a safe space for different members of our community to share their experiences and seek support from others. On social media, we put a special emphasis on the many important members of our community including siblings and caregivers who make such a positive difference in the lives of people living with Niemann-Pick. We continued our work with leaders in government, industry, and advocacy to help raise broader awareness of the impact of Niemann-Pick disease and we expanded our research efforts to better understand issues related to insurance, disease burden, and challenges in access to care that can lead to new avenues of support for our community. And above all else, we continued to fight for access to new treatments and resources that can improve the lives of all people affected by Niemann-Pick disease. Heading into 2024, we will continue to expand our efforts and build on this great momentum.

The Niemann-Pick community is the epitome of the strength and determination of a small but mighty community. Diagnosed individuals, caregivers, families, healthcare leaders, researchers, donors, and industry partners all play an important role and we are grateful to all of you who have supported our efforts at NNPDF. As we look back, we feel confident that the positivity and perseverance of our community will help us reach even higher levels of change in the year to come. Despite the challenges we have faced, we continue to show the world that we are united, and that we will not stop until we reach a day where ALL people impacted by ALL types of Niemann-Pick disease have access to life-changing treatments and support.

Thank you again for your continued support. From all of us at NNPDF, have a safe and happy holiday.

Warm regards,

Joslyn Crowe
NNPDF Executive Director

We Remember Them

As a part of our Niemann-Pick community, please join the NNPDF in keeping all of our families in our thoughts now and throughout the year.

Celebrating Milestones in 2023

Navy Team Basketball is proud to welcome Caleb Woodard to the Navy Team Family! Caleb signed his Team IMPACT letter of intent and the N.T.F. is thrilled to have him join their team. Team IMPACT is a nonprofit that matches children facing serious illness and disability with college sports teams to create life-changing experiences. Congratulations, Caleb!

Linwood Lewis has celebrated many milestones so far this school year. Starting a new school, riding the bus, and attending his first Special Olympics! Even though Linwood wasn’t old enough to participate with most of the kids in the competition, the school that hosted the event prepared games and activities for the kids that were not old enough, including the grinch being arrested! Linwood’s PCP, Mrs. Davis, assists him all throughout the day and even rides the bus with him. Way to go Linwood!

Who’s that under the lights? It’s Allison Reiter! Allison has been keeping herself busy with not 1, but 2 on stage productions! She participated in Footloose at the Cultural Park Theatre and in Let’s Go to the Movies at the Belle theater in September. Way to go Allison!

Abby Alvey was honored with the Governor of Virginia declaring Feb 28th as rare disease day in the state of Virginia. His staff are in the photos giving us the Proclamation. She also helped host rare disease day in her school where all the classes K-5 had a morning lesson plan about rare disease. Way to go Abby!

Allison Reiter raised $2,000 and was the top fundraiser for Best Buddies Southwest Florida chapter. Allison also became the state ambassador of the program. Great job Allison!

If you have a special Milestone you’d like to share with your Niemann-Pick community please send us a photo and the details to [email protected].

Linwood is a kindergarten graduate and is off to the first grade! Linwood loved kindergarten and made so many friends this year! Linwood plans on spending his summer going to baseball games and hanging out with family and friends! Congratulations Linwood!!

Congratulations Tinley Apt who has been doing remarkable since starting enzyme replacement treatment for ASMD in August 2021. She was so excited to get to play soccer last summer and keeps busy and active with coloring, playing with friends and loves to swim in the summer. GO TINLEY!!

Congratulations to Evren Ayik! Evren was selected by Uplifting Athletes as a Broncos Country Hero of the Game at the Sunday, January 8th game between the Denver Broncos and the Los Angeles Chargers. Evren shares “One of the best experiences of my life! Thank you to the Uplifting Athletes and Denver Broncos for this very special and memorable experience!” Way to go Evren!! You can check out the video on Facebook.

Do you have a special milestone to share? Send us a photo along with the details to [email protected] and we’ll publish in an upcoming newsletter!

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

THANK YOU to Attley Martin who hosted a craft sale and chose to send a portion of her proceeds to the NNPDF in honor of her very special aunt, Kelly Schoenecker. Pictured are Julie Martin, Annika Schoenecker, Kelly Schoenecker, Meggie Martin, and Attley Martin. And we LOVE the awareness shirts!!

THANK YOU to Thermo Fisher in raising over $16,000 for the National Niemann-Pick Disease Foundation! Thermo Fisher’s St. Louis site hosted its 2nd Annual Made For Patient Program Trivia Night. The Made For Patient Program, supported by the Pharma Services Group, is designed to support Thermo Fisher Scientific’s mission and connect employees with the amazing work they do for patients every day. With over 200 people in attendance, great fun and fundraising was had by all as the site honored the NNPDF. This year, the St. Louis Made For Program Team raised over $16,000, with their Thermo Fisher company match program, for the NNPDF. During the evening, there were many moments and bonus questions built around Niemann-Pick Disease.

The company’s Made For Patient Program focuses on creating awareness around the patients that receive the products that are manufactured throughout their biologics sites so that all employees have a greater sense of quality, understanding, and pride.

NNPDF Action Alert! Sign on letter for the FDA in support of Arimoclomol

NNPDF along with other advocacy organizations and leaders, including Ara Parseghian Medical Research Fund, Dana’s Angels Research Trust, Firefly Fund, Hide and Seek Foundation, Hope for Marian, and Support of Accelerated Research (SOAR), have engaged with both Zevra and FDA over the past years to ensure that they understood the significant unmet medical needs faced by those living with NPC, and to advocate for reasonable and appropriate flexible clinical trial and regulatory approaches for all drugs for this ultra-rare disease.

Arimoclomol, an experimental drug being developed by Zevra Therapeutics completed a Phase 2/3 clinical trial in 2019. The primary endpoint assessing benefit on the 5-domain NPC Clinical Severity Scale (NPCCSS) was met, forming the basis of a New Drug Application (NDA) submitted to FDA for review. FDA concerns with the NPCCSS scoring, statistical methods, and extent of confirmatory evidence led to a Complete Response Letter (CRL) being issued by FDA in 2021, denying approval of the drug.

Since the CRL, Zevra has been working diligently to develop the additional data, information, and analyses needed to address the issues raised in the CRL, including through meetings with FDA, to form the basis of a resubmission of the NDA. With Zevra’s plans to complete this resubmission in the coming weeks, it is important that our community’s voice is heard.

We are taking action and we need your support and input!

Learn more at

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

NNPDF Store

Our store is open and has some great items to help raise awareness for ASMD or NPC, and even personalize for your family. Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options and are available in T-Shirt or Hoodie options. Be sure to check out our NNPDF apparel and logo items! Send us your photos with your new gear!

Join ASMD Accelerate, Contribute to ASMD Research

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Azafaros: Azafaros is pleased to announce its Phase 2 clinical trial RAINBOW study, evaluating nizubaglustat in GM2 and NPC patients, is now fully enrolled. While unfortunately there are no actively recruiting studies with nizubaglustat in the US at the moment, Azafaros is working to initiate phase 3 studies globally, including the US.

Please see Azarafos’ complete message for the Niemann-Pick community below.

Read complete announcement.
Read the message.

Update from Cyclo Therapeutics: Cyclo Therapeutics announces positive outcome from type C meeting with the U.S. FDA discussing Trappsol® Cyclo™ Clinical Program for the treatment of Niemann-Pick Disease type C1. Read complete announcement.

The Assistance Fund

Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.

Comprehensive Care Centers

NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!

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

Supporting one another. Supporting our community.

November 2023 Newsletter

Newsletters

Message from our Executive Director

Dear Friends,

As we head into the holiday season, I am keenly aware that this can be a challenging time for some families. I hope our team at NNPDF can make the next few weeks a little easier for those in need of care and assistance by offering friendly voices of comfort, one-to-one support services, Community Connections informal group discussions, providing financial relief through our Family Assistance & Support Program, by helping with gifts for the holidays through our Bringing Holiday Cheer program, or through any of our programs, all of which are designed to support Niemann-Pick families.

After a challenging few years in our drug development space, it’s positive to see some of the experimental therapies in Niemann-Pick type C are looking towards submitting New Drug Applications to the FDA in coming weeks. We are working hand-in-hand with our pharmaceutical partners to ensure that we have the greatest chances of success and that we can soon change the course of this disease.

Now more than ever, NNPDF’s mission and focus on advocacy and family services is essential for the Niemann-Pick community. We will continue fighting hard and working to bring approved medicines to all Niemann-Pick families in the U.S. Our mission to support families at all stages of the Niemann-Pick journey is so greatly needed and delivers hope to so many.

We can’t do this without your support. Please consider a year-end donation to help our work and to show your care for Niemann-Pick families.

To learn more about NNPDF or to make a donation, visit nnpdf.org.

With best wishes,

Joslyn Crowe
NNPDF Executive Director

Celebrating National Family Caregivers Month

November is National Family Caregiver’s Month – an important opportunity to honor the incredible dedication and unwavering support of caregivers across the world. At the National Niemann-Pick Disease Foundation (NNPDF), we deeply value the crucial role that caregivers play in our community. We also recognize the importance of ensuring caregivers have access to resources that can help manage the emotional, physical, and financial challenges they experience.

This year’s theme, #CaregiversConnect, highlights the power of making connections throughout the caregiving journey. The challenges faced by caregivers in the Niemann-Pick community can be immense. Managing treatment plans, navigating a maze of healthcare systems, and coping with the emotional toll are just a few of the hurdles our caregivers confront daily. Having a network of support and making connections with other caregivers can help ease the burden of these challenges. Sharing experiences, insights, and emotional support with others who share a similar journey can provide a profound sense of comfort and solidarity. At NNPDF, we work hard to provide opportunities for caregivers to connect including through our online Community Connections support groups and our Annual Family & Medical Conference where caregivers can meet, attend sessions catered to their needs and interests, and make lasting friendships. Read the complete blog post.

NNPDF - Barb and Her Boys Quote Card 11-16-23

Advocacy

Taylor Sabky, NNPDF Board of Directors had the opportunity to testify at the State House in Massachusetts in support of H.2236/S.1366, an act to improve newborn screening tests. Taylor shared her son Purnell’s journey with ASMD and the impact that early awareness of the disease through newborn screening would have had on their lives. Taylor was joined by some guests of honor — her students — who showed their support and were able to take the opportunity to witness the intersection of public health, law, and advocacy.

NNPDF In Action

Laurie Turner, NNPDF Family Services Manager, attended the C-Path Scientific Breakthrough Summit in Washington DC where she was a featured speaker on the panel discussion Conducting gene therapy clinical trials in neonatal and early pediatric age including newborn screening. The summit featured presentations and panel discussions with C-Path collaborators from industry, academia, regulatory agencies, nurses, parents, and patients.

Joslyn Crowe, NNPDF Executive Director, presented at the Orphan Drugs & Rare Diseases Congress in Boston where she gave a presentation on The Impact of Rare Disease on Siblings. Joslyn was also a featured speaker on the Keynote Panel Discussion: The Importance of Patient Networks and Advocacy Groups in Designing of Clinical Trials and Patient Recruitment. This congress provided a comprehensive overview of the critical issues shaping the future of Orphan Drugs and Rare Diseases.

Thank you to Thermo Fisher Scientific – St. Louis Biologics for hosting the “Made For” Patient Program Trivia Night fundraiser. Monies raised at the Disney themed event are to benefit the National Niemann-Pick Disease Foundation to help support our community. Jill Beirl, NNPDF Communications and Marketing Coordinator was a featured speaker on NNPDF’s role in supporting Niemann-Pick families.

International Niemann-Pick Disease Alliance colleagues joined together at the INPDA Biennial Face-to-Face Meeting in Tarragona, Spain. This meeting brings together representatives of the INPDA global associations to offer the opportunity to address advances in research and share experiences with the aim of enhancing knowledge and awareness regarding all aspects of Niemann-Pick disease.

Harry Koujaian, INPDR Ambassador, Pam Andrews, Firefly Fund, Joslyn Crowe, NNPDF Executive Director and INPDA Vice President, and Gail Koujaian, NNPDF Representative and Board of Directors

INPDA and Fundación Niemann-Pick de España leadership

INPDA 2024 Executive Committee: Sarah Janette, Executive Communications Officer, Joslyn Crowe, Vice President, Sandy Cowie, President, Toni Mathieson, Executive Secretary

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

ASMD Feedback Interview Opportunity

Share Your Experiences with ASMD/Niemann-Pick Disease

Pinpoint Patient Recruiting, a market research recruitment company, is searching for people who have been diagnosed with Acid Sphingomyelinase Deficiency (ASMD) (also known as Niemann-Pick) as well as their caregivers, to participate in a 60-minute online interview about their experiences. The information gathered in these interviews will be used to improve the diagnosis and treatment experiences for others living with ASMD/Niemann-Pick.

If you or someone you care for has been diagnosed with ASMD, you may be eligible to participate. Anyone who qualifies for and completes the virtual interview will receive $125 as a thank you. All participants must be ages 18 or older and live in the US. All responses will remain confidential.

Interested?
To see if you qualify for the study or to get more information, please visit pinpointpatientrecruiting.com/asmd or contact Julie Knell at [email protected].

The Assistance Fund

Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.

NNPDF Store

Our store is open and has some great items to help raise awareness for ASMD or NPC, and even personalize for your family. Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options and are available in T-Shirt or Hoodie options. Be sure to check out our NNPDF apparel and logo items! Send us your photos with your new gear!

Join ASMD Accelerate, Contribute to ASMD Research

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

THANK YOU to Mandy Baxter, Jennifer Lynn Johnson, Liz Heinze and Shericka Jackson who recently held Facebook Fundraisers!

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

Community News Update

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

Update from Zevra Therapeutics:
Zevra announces the completion of its acquisition of Acer Therapeutics. Zevra states they are committed to the arimoclomol expanded access program as a much-needed treatment of NPC, and their goal is to resubmit the arimoclomol New Drug Application (NDA) to the FDA by the end of 2023. Read the complete announcement.

Please contact Joslyn Crowe, NNPDF Executive Director, with any questions.

Comprehensive Care Centers

NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!

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

Supporting one another. Supporting our community.

October 2023 Newsletter

Newsletters

Message from our Executive Director

Dear Community Members,

I would like to personally invite you to join the International Niemann-Pick Disease Registry (INPDR). Improved understanding of Niemann-Pick diseases, and access to effective therapies is something we all want to see, and that is why your contribution to the INPDR is critical.

The role of the INPDR is also critical, as the data it collects is used to support research and therapy development, and to provide evidence that supports the approval of new drugs. To fulfil this important role, the INPDR needs your help.

As someone with lived experience of Niemann-Pick disease, you know the profound impact it can have on health and quality of life for patients and their families, plus the many challenges of diagnosis and access to health and social care services. By sharing your insight and experience with the INPDR, you can help to increase understanding of Niemann-Pick diseases, reduce time to diagnosis, improve clinical care and support much-needed research.

With several therapies in clinical trial, potential therapies on the horizon and a high level of scientific interest in both ASMD and NPC, now is the time to join the INPDR. I believe this is the most effective way we, as a community, can support and advance progress. You can learn more and sign up using the link below – and if you are already registered, log in to see the updates and new features available now at registry.inpdr.org/insight/prd/#/welcome

The INPDR is your registry – it was created “by the community, for the community” – and by working together to capture and document our experience, we can and will positively impact patient outcomes.

Alongside the INPDR Team, I am here to answer any questions you may have; please feel free to reach out at any time.

With best wishes,

Joslyn Crowe
NNPDF Executive Director

NNPDF: [email protected]
INPDR: [email protected]

To learn more, please visit the following:
NNPDF – nnpdf.org/family-support/inpdr
INPDR – inpdr.org
What is the INPDR?
What is the Patient Reported Database (PRD)?
What is a registry?

Niemann-Pick Awareness Month

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

Niemann-Pick Awareness - Print Page Sample V3

NNPDF - Super Siblings Quote Card - Serina 2

Niemann-Pick Awareness - Print Page Sample V1

Super Siblings Quote Card - Jenna NPAM 2023

Niemann-Pick Awareness - Print Page Sample V2

NNPDF - Super Siblings Quote Card - Serina 10-18-23

Celebrating Family Strength During Niemann-Pick Awareness Month

BLOG POST 10/11/2023 | October is a special month for the Niemann-Pick disease community, as it marks Niemann-Pick Awareness Month – a time to come together, raise awareness, and celebrate the strength and resilience of those affected by the disease. This year, the National Niemann-Pick Disease Foundation (NNPDF) is focusing on a theme close to our hearts: families and the profound impact that Niemann-Pick has on each member of the family unit. From the person living with Niemann-Pick, to their siblings, parents, and extended family members, everyone is touched by the journey and strength required to navigate this complex condition. NNPDF is proud to be the national patient advocacy organization that works to support every family member affected by Niemann-Pick disease. While rare disease awareness events often center around those living with the condition… READ MORE

Special Tribute to Rhonda Kehoe

NNPDF is sad to share the passing of Rhonda Kehoe. As the mother to Graham (10/23/1992 – 04/16/2003, NPC) and Connor, Rhonda served on the NNPDF Board of Directors for several years.

Rhonda is remembered by our community as kind, lively, and full of laughter, brightening up a room with her smile. She was always welcoming and compassionate to new families navigating the Niemann-Pick journey. The NNPDF community will forever be grateful for Rhonda’s never-ending compassion and support.

Join us in sharing our heartfelt condolences to her family.

Quinn Madeleine Foundation

Quinn Madeleine Foundation (QMF) recently announced that after a decade of work dedicated to awareness of hope, memories for life in honor of the founders’ daughter Quinn, the organization is dissolving. QMF’s incredible work Includes identifying 32 carriers of the pathogenic mutation that causes Niemann-Pick, type A (also known as Neurovisceral Acid-Sphingomyelinase Deficiency, or Neurovisceral ASMD).

NNPDF is honored to have been chosen to carry on the incredible work of the QMF as the recipient of funds that will go towards the following programs:

NNPDF’s ASMD Research Fellowship
Newborn Screening
Contribute Findings of their carrier research to the International Niemann-Pick Disease Registry (INPDR)

The generosity of this act, and the trust this shows from the QMF in the stewardship of NNPDF, is the highest compliment we could receive and a reflection of our dedication and commitment to fulfill the unmet needs in the community. We are humbled and honored by this remarkable gift.

Milestones

Congratulations to Tucker Bolsinger, Student of the Week! Tucker, a freshman, was chosen as Student of the Week because he helps in class by passing out papers without being asked, is always nice to the teacher in and out of class, is hard working, is willing to answer questions, and isn’t afraid to ask questions if he has any. Mrs. Amundson notes that “Tucker is kind, hardworking, and always has a smile.” Congratulations, Tucker!

Who’s that under the lights? It’s Allison Reiter! Allison has been keeping herself busy with not 1, but 2 on stage productions! She participated in Footloose at the Cultural Park Theatre and in Let’s Go to the Movies at the Belle theater in September. Way to go Allison!

If you have a special Milestone you’d like to share with your Niemann-Pick community please send us a photo and the details to [email protected].

The Assistance Fund Program Reenrollment

If you are you currently receiving financial assistance through The Assistance Fund’s ASMD financial assistance program, please be aware of key dates and TAF’s reenrollment process so you are prepared to submit a reenrollment application for 2024 TAF assistance. The Assistance Fund has recently sent patients currently enrolled in TAF’s ASMD Financial Assistance Program important reenrollment information. Find 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 9.

ASMD Feedback Interview Opportunity

Share Your Experiences with ASMD/Niemann-Pick Disease

Pinpoint Patient Recruiting, a market research recruitment company, is searching for people who have been diagnosed with Acid Sphingomyelinase Deficiency (ASMD) (also known as Niemann-Pick) as well as their caregivers, to participate in a 60-minute online interview about their experiences. The information gathered in these interviews will be used to improve the diagnosis and treatment experiences for others living with ASMD/Niemann-Pick.

If you or someone you care for has been diagnosed with ASMD, you may be eligible to participate. Anyone who qualifies for and completes the virtual interview will receive $125 as a thank you. All participants must be ages 18 or older and live in the US. All responses will remain confidential.

Interested?
To see if you qualify for the study or to get more information, please visit pinpointpatientrecruiting.com/asmd or contact Julie Knell at [email protected].

New NPC Trial and Study

Phase 1/2a Study of 2-Hydroxypropyl-β-Cyclodextrin Therapy for Infantile Liver Disease Associated with NPC

Purpose of the Study:
The purpose of the study is to learn how well Adrabetadex can reduce liver damage in infants diagnosed with NPC disease.

Who will be enrolled?
Infants 6 months old or less with diagnosed NPC disease and evidence of liver disease are eligible to be screened for the trial.

What is involved if I participate?
The study has an initial 6-week phase during which the study participant will receive twice-weekly intravenous administration of the Adrabetadex drug. If there is evidence of clinical response, the participant is eligible to continue treatment for an additional 6 months.

Who is funding the study?
The National Institute of Child Health and Human Development of the National Institutes of Health

Who is the sponsor?
Patricia Dickson, MD

Who is the principal investigator (pi)?
Barbara Warner, MD

Where will the study take place?
St. Louis Children’s Hospital at Washington University Medical Center

Who do I contact for more information?
Patricia Dickson, MD
314-273-2943 | [email protected]

Barbara Warner, MD
314-454-2683 | [email protected]

Laura Linneman, RN
Research Nurse Coordinator
314-454-4950 | [email protected]

More information can be found on clinicaltrials.gov

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

THANK YOU to Dawn Stites, Paula Fowler, Mollie Honsinger, Karen Russell, Natalie Ellison, Jeannine Hill, and Lenette Ferguson who recently held Facebook Fundraisers!

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

Niemann-Pick Awareness Apparel

NIEMANN-PICK AWARENESS APPAREL is now available! Raise awareness for ASMD or NPC, and even personalize for your family with these NEW design options. Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options available. Send us your photos with your new gear!

Comprehensive Care Centers

NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

Community News Update

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

Update from Zevra Therapeutics:
Zevra Therapeutics, Inc. proudly supports the Niemann-Pick community on Global Niemann-Pick Disease Awareness Day and throughout Niemann-Pick Disease Awareness Month. Patient organizations like the International Niemann-Pick Disease Alliance (INPDA) and the National Niemann-Pick Disease Foundation (NNPDF) provide essential support for people living with Niemann-Pick disease type C (NPC) and their families and advocate for needed treatments. Read the complete announcement.

Update from Bloomsbury Genetic Therapies:
Bloomsbury Genetic Therapies Limited announced that the Company has received Orphan Drug Designations (ODD) from the US Food and Drug Administration (FDA) and the European Commission (EC) for BGT-NPC, an investigational gene therapy for the treatment of Niemann-Pick Disease Type C (NPC).

The Company also received a detailed Type B Pre-Investigational New Drug Application (IND) Written Response from the FDA, providing constructive feedback on the Company’s plans for chemistry, manufacturing, and controls (CMC), non-clinical and clinical development for BGT-NPC. Read the complete announcement.

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!

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

Supporting one another. Supporting our community.

September 2023 Newsletter

Newsletters

Message from our Executive Director

Dear NNPDF Community,

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

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

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

Highlights include:

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

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

Sincerely,

Joslyn Crowe
NNPDF Executive Director

October is Niemann-Pick Awareness Month

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

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

Learn more on how to get involved!

Community Connection Opportunities

Connect with other NNPDF Families during Niemann-Pick Awareness Month! NNPDF will be hosting several opportunities for gathering and connecting virtually starting on October 3rd! We look forward to sharing time together, to take a break and reconnect with other Niemann-Pick community members. Be sure to check out our calendar of events and register in advance.

NEW!!! Niemann-Pick Awareness Apparel

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

The Importance of Newborn Screening for Niemann-Pick Disease

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

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

Read complete blog post.

Unlocking the Potential of Digital Health Solutions for Rare Disease Communities

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

Read complete blog post.

Friends...

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

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

Milestones

Abby Alvey was honored with the Governor of Virginia declaring Feb 28th as rare disease day in the state of Virginia. His staff are in the photos giving us the Proclamation. She also helped host rare disease day in her school where all the classes K-5 had a morning lesson plan about rare disease. Way to go Abby!

Allison Reiter raised $2,000 and was the top fundraiser for Best Buddies Southwest Florida chapter. Allison also became the state ambassador of the program. Great job Allison!

If you have a special Milestone you’d like to share with your Niemann-Pick community please send us a photo and the details to [email protected].

The Assistance Fund

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

The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.

Comprehensive Care Centers

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

NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

ASMD Accelerate

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

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

Visit picnichealth.com/asmd-wylder-nation or email [email protected] with any questions.

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

Community News Update

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

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

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

THANK YOU to Garland Alvey, Patricia Steiger, Andrew Johnson, Jasmine Cady, Paul Fonseca, and Kim Whitaker Skinner who recently held Facebook Fundraisers!

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!

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

Supporting one another. Supporting our community.

Summer 2023 Newsletter

Newsletters

Message from our Executive Director

Dear NNPDF Community,

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

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

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

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

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

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

Sincerely,

Joslyn Crowe
NNPDF Executive Director

Family Support & Medical Conference Recap

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

Check out the conference recordings, photos, and more!

2023 NNPDF Breakthrough Award

Congratulations to Sanofi, our 2023 NNPDF Breakthrough Award Recipient!

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

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

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

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

Congratulations Sanofi!

2023 NNPDF Persevere Award

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

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

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

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

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

2023 NNPDF Cora Sterling Endurance Award

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

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

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

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

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

Lysosomal Storage Disease Advocacy Coalition

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

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

ASMD Represented at Sanofi Rare Disease Registries Patient Council

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

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

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

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

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

Community News Update

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

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

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

The Assistance Fund

Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.

Comprehensive Care Centers

NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

THANK YOU to Gail Schrivener, Gina Clark, Thomas Barry, and Shane Hemsley who recently held Facebook Fundraisers!

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

ASMD Accelerate

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

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

Visit picnichealth.com/asmd-wylder-nation or email [email protected] with any questions.

NNPDF Membership

Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.

Click here to update or enroll today!

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

Supporting one another. Supporting our community.

June 2023 Newsletter

Newsletters

Message from our Executive Director

Dear NNPDF Community,

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

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

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

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

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

I look forward to seeing you all very soon!

Sincerely,
Joslyn Crowe
NNPDF Executive Director

Warm Regards,

Joslyn Crowe
NNPDF Executive Director

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

Conference Registration

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

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

Family Support & Medical Conference

Keynote Address Speaker Announcement

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

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

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

NNPDF In Action

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

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

Men's Health Month

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

Watch the video.

Milestones

Linwood is a kindergarten graduate and is off to the first grade! Linwood loved kindergarten and made so many friends this year! Linwood plans on spending his summer going to baseball games and hanging out with family and friends! Congratulations Linwood!!

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

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

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

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

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

Community News Updates

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

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

The Assistance Fund

Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.

Comprehensive Care Centers

NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

THANK YOU to Paul Fonseca, Patricia Steiger, Kim Whitaker Skinner, and Garland Alvey who recently held Facebook Fundraisers!

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at [email protected] 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 [email protected] or call 920-542-4038

Supporting one another. Supporting our community.

May 2023 Newsletter

Newsletters

Message from our Family Services Manager

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

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

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

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

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

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

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

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

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

Warm Regards,

Laurie Turner
NNPDF Family Services Manager

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

NNPDF Family Advisory Working Groups

Application Deadline May 31st

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

If you have any questions about or are interested in participating in our Family Advisory Working Groups, please reach out to Laurie Turner at [email protected] or call 877-287-3672.

Conference Accommodations

Reserve by June 15th

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

Conference Registration

Register by June 28th

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

Family Support & Medical Conference

Keynote Address Speaker Announcement

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

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

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

NNPDF In Action

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

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

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

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

Congratulations Christopher Sousa

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

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

RARE Act

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

Read the RARE Act letter of support.

Family Assistance & Support Program

The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

NPC Clinical Severity Scale (NPCCSS)

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

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

To learn more, simply click this link: t.ly/NPCCSS-2023 or reach out to Jackson Pountney via email at [email protected]

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

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

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

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

Community News Updates

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

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

The Assistance Fund

Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.

Comprehensive Care Centers

NNPDF provides a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at [email protected] 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 [email protected] or call 920-542-4038

Supporting one another. Supporting our community.

April 2023 Newsletter

Newsletters

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

nnpdfconf.org

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 [email protected] 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 [email protected] 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 [email protected].

Fundraising

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick Disease.

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 [email protected] 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 [email protected] 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 [email protected].

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 [email protected].

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 [email protected] 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 [email protected] 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 [email protected] if you have any questions about this program.

Category: Newsletters

Newsletters

Rare Disease Day is February 29th!

Bringing Holiday Cheer Update

Milestones

NNPDF Store

Family Assistance & Support Program

Fundraising

ASMD Accelerate Now Enrolling All Forms of ASMD

Comprehensive Care Centers

Clinical Trial Updates

The Assistance Fund

NNPDF Membership

Supporting one another. Supporting our community.

Newsletters

Message from our Executive Director

We Remember Them

Celebrating Milestones in 2023

Fundraising

NNPDF Action Alert! Sign on letter for the FDA in support of Arimoclomol

We are taking action and we need your support and input!

Learn more at

Family Assistance & Support Program

NNPDF Store

Join ASMD Accelerate, Contribute to ASMD Research

Clinical Trial Updates

The Assistance Fund

Comprehensive Care Centers

NNPDF Membership

Supporting one another. Supporting our community.

Newsletters

Message from our Executive Director

Celebrating National Family Caregivers Month

Advocacy

NNPDF In Action

Harry Koujaian, INPDR Ambassador, Pam Andrews, Firefly Fund, Joslyn Crowe, NNPDF Executive Director and INPDA Vice President, and Gail Koujaian, NNPDF Representative and Board of Directors

INPDA and Fundación Niemann-Pick de España leadership

INPDA 2024 Executive Committee: Sarah Janette, Executive Communications Officer, Joslyn Crowe, Vice President, Sandy Cowie, President, Toni Mathieson, Executive Secretary

Family Assistance & Support Program

ASMD Feedback Interview Opportunity

Share Your Experiences with ASMD/Niemann-Pick Disease

The Assistance Fund

NNPDF Store

Join ASMD Accelerate, Contribute to ASMD Research

Fundraising

Community News Update

Comprehensive Care Centers

NNPDF Membership

Supporting one another. Supporting our community.

Newsletters

Message from our Executive Director

Niemann-Pick Awareness Month

Celebrating Family Strength During Niemann-Pick Awareness Month

Special Tribute to Rhonda Kehoe

Quinn Madeleine Foundation

Milestones

The Assistance Fund Program Reenrollment

Pfrieger's Digest

ASMD Feedback Interview Opportunity

Share Your Experiences with ASMD/Niemann-Pick Disease

New NPC Trial and Study

Phase 1/2a Study of 2-Hydroxypropyl-β-Cyclodextrin Therapy for Infantile Liver Disease Associated with NPC

Fundraising

Niemann-Pick Awareness Apparel

Comprehensive Care Centers

Family Assistance & Support Program

Community News Update

NNPDF Membership

Supporting one another. Supporting our community.

Newsletters

Message from our Executive Director

October is Niemann-Pick Awareness Month

Community Connection Opportunities

NEW!!! Niemann-Pick Awareness Apparel

The Importance of Newborn Screening for Niemann-Pick Disease

Unlocking the Potential of Digital Health Solutions for Rare Disease Communities

Friends...

Milestones

The Assistance Fund

Comprehensive Care Centers