June 2023 Newsletter

June 2023

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!

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.


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


Family Assistance & Support Program

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

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

Clinical Trial Updates

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

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

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

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

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

Community News Updates

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

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

The Assistance Fund

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

Comprehensive Care Centers

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

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at lturner@nnpdf.org.


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

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

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

Surveys, Studies, & Market Research

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

NNPDF Membership

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

Click here to update or enroll today!

For assistance contact Laurie at familyservices@nnpdf.org or call 920-542-4038


Supporting one another. Supporting our community.

Honoring and Supporting Men Who Serve as Caregivers

June 2023

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

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

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

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

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

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