January – February 2022 Newsletter
Message from the Executive Director | Rare Disease Week | Rare Disease Day
Taking the Lead with ASMD – Sanofi Presentation | NNPDF In Action | Thank You Kara Ayik
Help for the Holidays Update | Duke-Margolis NPC Public Workshop Update
Joele Ruppert & Joseph Colton ASMD Scholarship | Volunteer Opportunities
NNPDF Research Fellowship Applications | Newborn Screening | AllStripes NPC Sibling Study Update
Rare Disease Advisory Councils | Share Your Voice! | Community Update Webinar with IntraBio Recording
Super Siblings Hangout with Serina! | 2022 Family Support & Medical Conference – Visit Orlando!
In the Spotlight | AllStripes NPC Research Program | Clinical Trial Updates
Community News Updates | Membership | Emergency Hardship Program | NNPDF Fundraising
Message from the Executive Director
Dear NNPDF Community,
It is hard to believe that the first months of the New Year is already over, but this is a great opportunity to provide an update on our plans and goals for the rest of 2022. Once again, our focus at NNPDF will be in the areas that are most important to the Niemann-Pick community, including support services, research, and access to treatment. Our goal is to find new ways to support the critical need to bring more treatment options to the community.
We are optimistic about the recent news shared by all of our pharmaceutical industry partners about progress in their ASMD and NPC programs and we maintain our primary focus of obtaining multiple treatments approved by regulatory and available for access by all families throughout the U.S.
More than ever, we must take every step possible to get patients access to treatments that can help. In many cases, these opportunities are driven by data – and so NNPDF will continue to expand the focus on both collecting and sharing patient and clinician-reported data. This is a critical need because Niemann-Pick can progress in different ways and at different speeds. Regulators and researchers need more insights about the impact of Niemann-Pick disease to make informed decisions. Access to data will play a central role in shaping current and future efforts to develop treatments and position them for approval. To help support this initiative, we will be working closely with the International Niemann-Pick Disease Registry (INDPR) – a patient owned registry designed to collect and share both patient and clinician data. We have also developed a patient reported outcomes survey that will help provide more data to better understand the impact of ASMD and will yield important information for use with regulatory agencies including the U.S. FDA.
As we work to emphasize the importance of patient data, we hope that you will join us in our efforts to collect individual experiences. Your input can provide new insights and help to confirm details about the impact of Niemann-Pick that can help to advance research in the months and years ahead. Throughout the year we will be conducting surveys and working with industry and regulatory leaders through webinars and other events to ensure that the patient experience is taken into consideration in all areas where it is essential to help guide decisions about research and treatments. If you are interested in sharing your experience or getting more involved in these efforts, please reach out to us at firstname.lastname@example.org.
While we expand our focus in this area, we will also continue to look for new ways to support Niemann-Pick families with services and information. We encourage you to take advantage of any NNPDF resources and also help us to reach more people who need them. We also welcome your ideas for any new issues we can address or any additional services that can help make your journey easier. I would like to thank you for your continued dedication to making a positive difference for people living with Niemann-Pick disease. I am confident that we will accomplish many great things this year as we all work together. As always, please do not hesitate to reach out if you have any questions about our work at NNPDF and the many ways that you can join in these efforts.
Joslyn Crowe, MSW, MA
NNPDF Executive Director
Rare Disease Week on Capitol Hill
Virtual Rare Disease Week on Capitol Hill events will be held February 22nd through March 2nd.
Registration is open for Virtual Rare Disease Week on Capitol Hill and will include the same opportunities as in-person Rare Disease Week, plus more! Rare Disease Week on Capitol Hill brings together rare disease community members from across the country to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators.
Visit everylifefoundation.org for complete details on:
#EveryVoiceMatters #NiemannPick #ASMD #NPC
Rare Disease Day - February 28th
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. It promotes raising awareness and generating change for the 300 million people worldwide living with a rare disease such as Niemann-Pick, their families and carers, and what it means to be rare.
Anyone can get involved in Rare Disease Day awareness. Participants can find helpful resources, activities and events to get involved at rarediseaseday.org. This global event was founded by EURORDIS and is sponsored by the National Organization for Rare Diseases (NORD).
Participation is easy!
- Download and use the I Support Rare Disease badge as your profile on your social pages. (Please Note: Customized profile frames are no longer offered by Facebook.)
- Share your NNPDF community members’ “rare” stories and videos from NNPDF’s (public) social pages. Find us on Facebook, Instagram and Twitter.
- Share the global Rare Disease Day infographics from NNPDF’s social pages.
- Register to attend virtual Rare Disease Week on Capitol Hill.
- Participate in the Scavenger Hunt during virtual Rare Disease Week on Capitol Hill for a chance to win a grant for National Niemann-Pick Disease Foundation which will provide continued awareness and support for the Niemann-Pick community.
- Share Your Story for a chance to win a donation to NNPDF. Your rare disease stories are pathways to treatments and cures!
Taking the Lead with ASMD: Navigating the Healthcare System Presentation
Please join Sanofi Genzyme for their educational presentation Taking the Lead with ASMD: Navigating the Healthcare System taking place on Tuesday and Thursday February 22 and 24th. This virtual educational presentation will focus on tips for identifying your healthcare team, preparing for medical appointments, staying on top of your management plan, and more.
NNPDF In Action
Joslyn Crowe, Executive Director and Justin Hopkin, Board Chair attended WORLDSymposium 2022 last week where they heard the latest updates on research in lysosomal storage diseases. They presented a poster co-authored by NNPDF on “A qualitative study to understand caregivers’ burden of acid sphingomyelinase deficiency” and were able to connect with several colleagues in the rare disease space.
VIEW POSTER: A qualitative study to understand caregivers’ burden of acid sphingomyelinase deficiency
NNPDF Board Member Update
A heartfelt THANK YOU to Kara Ayik for serving as an NNPDF Board Member. Your dedication, service, and commitment to the National Niemann-Pick Disease Foundation and the families it supports has been extraordinary.
Help for the Holidays
Sixteen NNPDF Community member families had help in making their holidays a little brighter thanks to an anonymous special donor. Our donor family wished to help ease the burden of Holiday stress, knowing that living with NPD can be difficult. NNPDF was able to assist with over 150 items for families.
THANK YOU to our donor family – “… you all made us very happy with your act of love.”
Duke-Margolis NPC Public Workshop Update
A public workshop was recently held by Duke-Margolis Center for Health Policy, sponsored by the FDA. This virtual public workshop allowed participants the opportunity to discuss clinical endpoints relevant to NPC clinical trials and innovative strategies to support therapeutic development for patients with NPC.
Several of our Niemann-Pick community members were able to share their stories during this event. As a community, we thank them for advocating on behalf of the entire NPC community to ensure that our families and expert clinicians voices are heard and incorporated into decision making and outcomes.
You may continue to submit comments for this workshop to Docket FDA-2021-N-1297 until April 25, 2022.
Joele Ruppert & Joseph Colton ASMD Scholarship
Joele Ruppert and Joseph Colton are a much-loved daughter and son, both diagnosed with ASMD. This scholarship has been created in honor of the lives of these two cherished children and their parents who embodied the highest values of the human spirit. Read complete story and learn more about this scholarship opportunity.
APPLICATION DEADLINE IS MAY 15, 2022.
Sign up to volunteer and help make a difference in our community!
Volunteers are essential to our Niemann-Pick community to support awareness and keeping our family support organization moving forward. We are currently collecting resumes and letters of interest from those interested in volunteering their skills and time to assist in the following positions with the NNPDF organization:
- Board Members
- Committee Teams
- Focus Groups
If you are interested in becoming a NNPDF volunteer, please send letter of interest by MARCH 15th to email@example.com and we will follow up with you with the process for applying. Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do.
Supporting One Another. Supporting Our Community.
NNPDF Research Fellowship Applications
NNPDF is now accepting Research Fellowship Applications. The Peter G. Penchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick Disease.
Niemann-Pick Disease research is one of the pillars of our mission and we are proud that since 1993, NNPDF has funded 52 grants and 20 fellowships totaling over $4,000,000. Our fellowships and grants have contributed to the identification of disease-causing genes, insights into the pathogenesis of NPC1 & NPC2, support of the NPC cat model at a critical juncture, and development of an assay for newborn screening. Many former grantees and fellows have remained active contributors in the Niemann-Pick Disease space.
Contact firstname.lastname@example.org with questions.
Application Deadline is June 1, 2022
Firefly Convenes 3rd Annual Newborn Screening Clinical Roundtable
More than 30 clinicians and researchers participated in Firefly’s 3rd Annual Newborn Screening Roundtable chaired by Drs. Elizabeth Berry-Kravis and Marc Patterson. Held at the end of 2021, the work to get expert alignment on key issues such as timing for treatment initiation; measuring disease progression, and the role and value of natural history data took on additional significance.
A few key Take-Aways:
- An in-meeting survey found unanimous agreement that developmental delay, specifically developmental slowing or stagnation which occurs before regression, is an important manifestation of disease onset, in early onset NPC
- Experts agreed on the need to publish an update to NPC guidelines focused on disease modifying tools and the value of early intervention authored by physicians, scientists, and patient groups
- NPC NBS research is underway: Pilot NBS study in New York and a study comparing outcomes for siblings diagnosed at different stages of disease progression and intervention
AllStripes NPC Sibling Study Update
We are excited to share AllStripes’ blogposts featuring Niemann-Pick family stories from Liz Heinze and Cindy Parseghian.
AllStripes NPC Sibling Study is a research database that will power multiple NPC research studies. The first study will explore early diagnosis and intervention. We hope to use the data to advocate for adding NPC to newborn screening programs.
Read Lifting up Legacy Families by Liz Heinze and I learned I Couldn’t Do This Alone by Cindy Parseghian. Thank you both for sharing your powerful and moving stories to reach our Niemann-Pick community and beyond.
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, only 21 states have RDACs. NNPDF has recently signed on to RDAC in the state of Mississippi. Read the letter and learn more about this issue.
Share Your Voice! A message from Cyclo Therapeutics…
Perspectives from the Niemann-Pick disease community play a central role in every area of our work. We are working to enroll NPC patients in our Phase 3 Program called TransportNPC™, which is currently the most advanced clinical research program in NPC in the world.
To help support and guide our work in the months and years ahead, Cyclo is establishing a new NPC Patient and Caregiver Advisory Board that will help to bring our team a broad range of perspectives and opinions that will support our work, while making sure that our work is aligned with the most urgent needs of the community. Patients and caregivers who join our board will have the opportunity to join in a two-way interaction that is designed to advance understanding of the burden of NPC, the needs of the community and the best ways to advance research. Through these discussions, Cyclo will collect feedback and use this guidance to plan for our continuing efforts to develop a treatment for NPC.
The Board will be comprised of 6-8 NPC disease advocates based in the United States. These members will be invited to work with many different members of the Cyclo team to build a better understanding of our mutual goals and the best ways to advance research moving forward. If you are interested, please reach out to email@example.com.
Community Update Webinar with IntraBio - Recording
The recording for the Community Update Webinar Series with IntraBio is now available. Thank you to Taylor Fields, Chief Product Development Officer and Tatiana Bremova-Ertl, MD, PhD, Department of Neurology, University Hospital Bern for sharing this important update on N-acetyl-leucine (IB1000s) for the treatment of NPC. View the recording.
Super Siblings Hangout with Serina!
A special event was recently held for our younger SUPER SIBLINGS to come together and virtually chat with Serina Heinze. The virtual chat allowed our ASMD and NPC unaffected siblings to have some time together to ask questions to Serina and share with one another, in hope of encouraging important relationships amongst our younger siblings. Thank you Serina for your continued commitment to support our younger siblings.
If your family’s super sibling (ages 6 to 12) has any questions for Serina, or to contact her at any time, email firstname.lastname@example.org.
Family Support & Medical Conference - Visit Orlando!
Join us in Orlando from July 28-31, 2022 at the Wyndham Grand as we come together for our 30th Annual NNPDF Family Support & Medical Conference! This year we will gather in conjunction with families and delegates from the International Niemann-Pick Disease Alliance (INPDA).
Start planning your stay by checking out some great conference attendee offers from Visit Orlando! Watch for conference registration, hotel reservation info, and health and safety guidelines coming soon!
Mom of Caleb – NPC
Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
My name is Lindsay and I have two amazing kids, Aubrey and Caleb. We live in a small town in Calvert County, which is south of Annapolis, Maryland and Washington, D.C. Caleb is a courageous 8 year old who is always ready for his next adventure. He is in the 3rd grade at the same school where I teach first grade. We have 2 mini-dachshund puppies, named Olive and Evie, who always keep us entertained. Caleb loves to be out on the water, tubing, crabbing, and swimming. He loves trying all different kinds of sports, his favorite at the moment is golf. Caleb loves being outside, playing with Aubrey, and is always willing to curl up to snuggle with someone.
When did you receive Caleb’s diagnosis and what to led to this?
Caleb was born March 4, 2013. He had jaundice at birth which was not alarming in itself at the time because many babies have jaundice when they are born. At Caleb’s two month wellness appointment, his pediatrician noticed he still had signs of jaundice and a distended belly. This led us to five long months of visits to different specialists and all kinds o
f testing and labs with no definitive answers. On October 15, 2013, Caleb was diagnosed with Niemann-Pick Type C disease. We were in shock and were told nothing to prepare us for this fatal diagnosis.
Within two weeks, we were in contact with NIH and had our first visit scheduled to be a part of their natural history study. We knew very little about treatment options but knew we had to do something to help Caleb fight this disease. In 2019, Caleb started Adrabetadex at RUSH University Medical Center. We traveled back and forth to Chicago from Maryland for a year. Thankfully Children’s National Hospital in Washington DC started allowing Caleb to receive treatments right before the pandemic. It was nice to be closer to home both for Caleb’s well-being and the family.
How did you learn about NNPDF?
Caleb’s diagnosis was an emotional roller coaster. I remember going to work the next day and getting upset because I felt like everything in my life was in question and people around me could never understand this feeling. I had a child with a fatal diagnosis and there was nothing I could do to help him. It was the most helpless feeling. It took me awhile to come to terms with his diagnosis. I was afraid to start researching because I was afraid of what I would find out. One of the first resources I came across was the NNPDF website. I realized that it wasn’t all just sad, scary stories. The NNPDF website brought relief to see that we weren’t alone in this frightening experience and there was help out there. It was encouraging to see all the support this community provided to each other and as frightening as it was to learn more and more about NPC I knew knowledge was crucial and I had to learn as much as could in order to help Caleb in this battle.
How has being an NNPDF member supported your family?
NNPDF has an amazing network of families, doctors, advocates, and patients. Being a member has helped connect our family to this amazing support system and helped us walk through this journey. Early on we knew we wanted to do our part to help raise funds for research and to spread awareness of NPC. Since our family lives by the bay and enjoys a good crab feast we reached out to a local restaurant to host Crabcakes for Caleb. We’ve had several years of successful years raising funds with the support of our friends and family. We appreciate all that NNPDF has done to contribute to our fundraising success. NNPDF helped guide me through the fundraising process and supported our family every step of the way.
What advice would you share with newly diagnosed families?
You are not alone. Reach out for support. There are so many amazing families that have experienced the despair and pain that you are going through with either a long, stressful diagnosis, understanding this complex disease, and/or deciding on treatment options and what’s best for your child. Everyone’s situation is different and unique, and you must do what is best for your family. You are your child’s best advocate.
AllStripes NPC Research Program
NNPDF is excited to partner with the Firefly Fund, Niemann-Pick Canada, the Ara Parseghian Medical Research Fund and AllStripes to create a research database that will power multiple NPC research studies. The first study will explore early diagnosis and intervention. We hope to use the data to advocate for adding NPC to newborn screening programs. To move this research forward, we are looking for families of 40 sibling pairs with NPC willing to contribute their de-identified medical records.
Learn how you can help.
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Update from Cyclo Therapeutics:
Cyclo Therapeutics announces the formation of a Global Steering Committee comprised of leading experts to advise on the global Phase 3 clinical development program for Trappsol® Cyclo™ in Niemann-Pick Disease Type C. Read complete update.
Update from Orphazyme:
Orphazyme has provided an update for the planned NDA resubmission for arimoclomol for the treatment of Niemann-Pick disease type C in the United States. Read the complete update.
Updates from Sanofi:
Sanofi has shared an important update on olipudase alfa: Olipudase alfa shown to provide sustained improvement across multiple clinical manifestations of ASMD. Read the press release.
Sanofi shared their Q1 Earnings Report which includes an important update on the Olipudase Alfa program. Read complete report.
Community News Updates
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.
For assistance contact Laurie at email@example.com 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 firstname.lastname@example.org if you have any questions about this program.
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 Niki Matchen, Pat Danielson, Carolyn Sowards, Donna Butts Price, Athan Eric Master, Franchesca Polo, and Keith Travels 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!