October 2023
Message from our Executive Director | Niemann-Pick Awareness Month | Celebrating Family Strength During Niemann-Pick Awareness Month | Tribute to Rhonda Kehoe | Quinn Madeleine Foundation | Milestones | The Assistance Fund | Pfrieger’s Digest | ASMD Feedback Interview Opportunity | New NPC Trial and Study | ASMD Accelerate | Fundraising | Niemann-Pick Awareness Apparel | Comprehensive Care Centers | Family Assistance & Support Program | Community News Update | Fundraising | NNPDF Membership
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: jcrowe@nnpdf.org
INPDR: info@inpdr.org
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!
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 nnpdf@nnpdf.org.
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 julie@pinpointpatientrecruiting.com.
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 | pdickson@wustl.edu
Barbara Warner, MD
314-454-2683 | warnerbb@wustl.edu
Laura Linneman, RN
Research Nurse Coordinator
314-454-4950 | llinneman@wustl.edu
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 lturner@nnpdf.org.
Family Assistance & Support Program
The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or familyservices@nnpdf.org if you have any questions about this program.
Community News Update
The NNPDF shares important news and highlights relevant to our Niemann-Pick community as soon as it is received. Visit our Community News web page under the resources tab for up to date information.
Update from 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 familyservices@nnpdf.org or call 920-542-4038
