February 2024 Newsletter

Jill Beirl

Message from our Executive Director

Dear Friends,
I recently learned that a group of zebras is called a dazzle. This really stood out to me. First, because the zebra is the symbol of rare disease. The origin of this came from medical students being told “When you hear hoofbeats behind you, don’t expect to see a zebra.” Essentially, they were told that doctors should consider common and usual diagnoses rather than rare or surprising ones. But as we know, sometimes when you hear hoofbeats, there really is a zebra behind you. And while we have work to continue to reduce the time it takes to receive a diagnosis for a rare disease like Niemann-Pick disease, we take today to remember that our families are not alone, and together the rare disease community is strong and mighty. Actually, together rare disease families DAZZLE.

Three Niemann-Pick community members are currently in Washington DC advocating and educating lawmakers as part of Rare Disease Week on Capitol Hill. NNPDF is proud to have supported their efforts in part with our Rare Disease Week on Capitol Hill Advocacy Scholarship and we look forward to the summaries they will share following the week’s events.

We are fortunate to have two new drug applications recently submitted to the FDA. Zevra Therapeutics’ application for arimoclomol was submitted in late December 2023 and has been assigned a response date of June 21, 2024. IntraBio’s application for N-acetyl-L-leucine (IB1001) was submitted in January 2024. The FDA has a 60-day filing review period to determine whether the NDA is complete and accepted for review.

As a national patient organization, we are championing all of the experimental therapies in our pipeline for successful regulatory approval to ensure that all Niemann-Pick individuals have treatment options. On behalf of the NPC community, NNPDF, in conjunction with our partner Niemann-Pick type C organizations, submitted a community response and support statement  for the FDA’s review of arimoclomol earlier this month. Our intent was to ensure the FDA heard from families living with NPC and other care partners, clinicians, and community supporters. Thank you to all that signed this community response letter and shared your voice.

We are currently working on our letter of support for N-acetyl-L-leucine (IB1001) and will share an update with the NPC community in the coming weeks.

I’m also pleased to share that our collaborative research efforts with INPDR, INPDA, and Niemann-Pick UK have resulted in a new publication titled Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency. This study was shared with the US Food & Drug Administration (FDA) and will continue to be shared with other international regulatory agencies as we look towards the approval of olipudase alfa in countries around the world to fill the unmet need for treatment of ASMD.

Registration will open shortly for our Family Support & Medical Conference, taking place July 11-13th in Salt Lake City, UT. Our annual conference is the largest gathering of patients affected by Niemann-Pick disease in the US, plus their family members, and experts in health, research, and education. It’s a critical time of year for families to connect with one another, and to have fun! I hope to see everyone there. In the meantime… keep dazzling.

Kind regards,


Joslyn Crowe
NNPDF Executive Director

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!

Community Update Series: NPC & ASMD Newborn Screening

Join us Monday, March 4th at 8:00 pm EST for a webinar on the NPC and ASMD Newborn Screening efforts. This webinar will share information on the importance of newborn screening and a brief history and update on the NPC & ASMD newborn screening programs.

Speakers include:

  • Pam Andrews, Executive Director, Firefly Fund
  • Melissa Wasserstein, MD, Professor, Department of Pediatrics Professor, Department of Genetics Chief, Division of Pediatric Genetic Medicine, Department of Pediatrics Montefiore Medical Center
  • Justin Hopkin, MD, NNPDF Scientific Advisory Board

Register in advance.

Thanking our Niemann-Pick Health Care Heroes

Clinical care team members play an important role in the lives of our Niemann-Pick families and are valued throughout our community. In recognition of Rare Disease Day NNPDF will mail Thank You cards to your Niemann-Pick Health Care Heroes to let them know they are very important to us. Health Care Heroes can include your primary care provider, genetic counselor, speech pathologist, physical or occupational therapist, gastroenterologist, respiratory therapist, home health care nurse, etc.

To participate, provide us with your Health Care Hero’s information at t.ly/ThankYou2024 by March 15th.

Volunteer Opportunities

Volunteers are essential to our Niemann-Pick community to support awareness and keep 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 with the NNPDF. All types of support are welcome!

  • Board Members
  • Committees
  • Focus Groups
  • Advocacy and Outreach
  • Other specialized skills you may have!

If you are interested in becoming a NNPDF volunteer, please send letter of interest by MARCH 30th to jcrowe@nnpdf.org 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.

July 11-13, 2024

Salt Lake City Marriott City Center  |  Salt Lake City, Utah

We look forward to seeing you at our 32nd Annual NNPDF Family Support & Medical Conference! NNPDF has many exciting opportunities to connect with expert clinicians, researchers, and other Niemann-Pick families who share your journey. Be sure to watch NNPDF communications for important updates. Registration opening soon!

Accommodations

Reserve by June 1st

NNPDF group rate will be available until June 1st, 2024. NNPDF Group Rate is $159 ($184.15 including taxes) per night. The NNPDF hotel group rate is available three days before and three days after the conference, dependent on hotel availability.

Joele Ruppert & Joseph Colton ASMD Scholarship

Application Deadline May 15th

NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship. This scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions.

NNPDF Cora Sterling Endurance Award

Application 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.

ADVOCACY: FDA Review of NPC New Drug Applications

We are fortunate to have two new drug applications recently submitted to the FDA. Zevra Therapeutics’ application for arimoclomol was submitted in late December 2023 and has been assigned a response date of June 21, 2024. IntraBio’s application for N-acetyl-L-leucine (IB1001) was submitted in January 2024. The FDA has a 60-day filing review period to determine whether the NDA is complete and accepted for review.

As a national patient organization, we are championing all of the experimental therapies in our pipeline for successful regulatory approval to ensure that all Niemann-Pick diagnosed individuals have treatment options best suited to their needs.

On behalf of the NPC community, NNPDF submitted the arimoclomol community response and support statement to the FDA earlier this month. Our intent was to ensure the FDA heard from families living with NPC and other care partners, clinicians, and community supporters, since any decision FDA makes regarding arimoclomol will impact you and your loved ones. Thank you to all that signed on and shared your voice in support of arimoclomol for the treatment of NPC.

We are currently working on our letter of support for N-acetyl-L-leucine (IB1001) and will share an update with the NPC community in the coming weeks.

RESEARCH: New publication on Real-life impacts of olipudase alfa

NNPDF is pleased to share the results of our collaborative research efforts with INPDR, INPDA, and Niemann-Pick UK have resulted in a new publication titled Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency. This study has been shared with the US Food & Drug Administration (FDA) and with other international regulatory agencies as we look towards the approval of olipudase alfa in countries around the world to fill the unmet need for treatment of ASMD.

Read the Orphanet Journal of Rare Diseases publication.

NNPDF Store

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. 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.

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.

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 Keith Mainhart and Kathy Swanson 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 lturner@nnpdf.org.

Clinical Trial Updates

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

Updates from IntraBio:
IntraBio is pleased to share that The New England Journal of Medicine (NEJM) has published a “Science Behind the Study” Expert Perspective Editorial on N-acetyl-L-leucine (IB1001) for the treatment of various neurodegenerative disorders, including all neurodegenerative lysosomal storage diseases. Read the complete announcement and the published article.

IntraBio is pleased to share that The New England Journal of Medicine (NEJM) has published the detailed results of the IB1001-301 Phase 3, Pivotal study with N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease Type C (NPC). Read the complete announcement and the published article.

 

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 familyservices@nnpdf.org or call 920-542-4038

            

Supporting one another. Supporting our community.

January 2024 Newsletter

Jill Beirl

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 nnpdf@nnpdf.org.

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.

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.

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 lturner@nnpdf.org.

Clinical Trial Updates

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

Update from IntraBio:  IntraBio 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 familyservices@nnpdf.org or call 920-542-4038

            

Supporting one another. Supporting our community.

December 2023 Newsletter

Jill Beirl

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 nnpdf@nnpdf.org.

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 nnpdf@nnpdf.org 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 familyservices@nnpdf.org 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 lturner@nnpdf.org.

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.

November 2023 Newsletter

Jill Beirl

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.

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 familyservices@nnpdf.org 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 julie@pinpointpatientrecruiting.com.

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 lturner@nnpdf.org.

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 Niemann-Pick Caregivers during National Family Caregiver’s Month

Jill Beirl

Joslyn Crowe, NNPDF Executive Director

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.

Find your tribe. Be it that one person, group of people, within the NPC community, within your local community, in your personal friendship circle, or wherever. But find those people who can be there to listen, to vent to, to share stories with, to cry or laugh with, and to find encouragement from. They are the ones who will pull you through when you feel like there is no way forward. – Barb Lazarus, NPC caregiver

This month also represents an opportunity to highlight the importance of personal health. Amidst their dedication to their loved ones, caregivers often overlook their own well-being. However, it’s essential to prioritize self-care. Taking moments for yourself is not selfish—it’s a necessity. Whether it’s finding time for relaxation, engaging in hobbies, or seeking support from others, caregivers must recognize the importance of their own mental and physical health. When our caregivers prioritize self-care, they become better equipped to provide the best possible care for their loved ones.

My advice to other caregivers would be to reach out to others, just talk. Ask for help when you need it. If you aren’t healthy, you can’t take care of your loved one. – Dan Reynolds, NPC caregiver

During National Family Caregivers Month, we invite the community to join us in recognizing and expressing gratitude for the remarkable dedication of caregivers who support people impacted by Niemann-Pick disease every day. To all the caregivers, your unwavering dedication is awe-inspiring. Your resilience is commendable. Your love and care are invaluable. Taking care of yourself is just as crucial as caring for your loved ones. Remember, you are not alone—reach out, connect, and prioritize your well-being. Together, let us continue to support and uplift each other in this journey. Thank you for being the unsung heroes of the Niemann-Pick Disease community. Your selfless dedication inspires us all.

For more information and support, please visit nnpdf.org/family-support/ or reach out to us at familyservices@nnpdf.org.

Quinn Madeleine Foundation

Jill Beirl

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.

October 2023 Newsletter

Jill Beirl

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

            

Supporting one another. Supporting our community.

Celebrating Family Strength During Niemann-Pick Awareness Month

Jill Beirl

#niemannpickawareness #NPC #ASMD #raredisease

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, it is equally important to recognize the impact that a disease has on all members of a family. Niemann-Pick Awareness Month holds significant importance for all family members:  

1. Creating a Supportive Network: Niemann-Pick Awareness Month provides a platform for families to come together and connect. In the face of this rare disease, the sense of isolation can be overwhelming. Awareness events help bring together a supportive network of individuals who understand the unique challenges and can offer valuable emotional support.

2. Raising Public Awareness: Rare diseases often suffer from a lack of public awareness, which can hinder research efforts and access to resources. Niemann-Pick Awareness Month shines a much-needed spotlight on the disease, helping to better educate the public and government and industry leaders who have the power to make an impact in our community.

3. Advancing Research and Treatments: Over the past several years, our community has made remarkable strides. We now have a treatment available for ASMD and are witnessing exciting progress in research for Niemann-Pick type C (NPC). Awareness events generate interest and funding for research, bringing us closer to effective treatments and, ultimately, a cure.

4. Empowering Families: Awareness months empower families with knowledge and resources. Families learn about the latest developments in research and treatment options, as well as programs to support the emotional and financial challenges that come with this disease, empowering them to make informed decisions about their loved one’s care.

5. Celebrating Resilience: Despite the challenges we face each day, the Niemann-Pick community exemplifies resilience and strength. Awareness events provide a platform to celebrate the courage and determination of those living with the disease and their families. It is a special time to show the world our strength and the impact we can have when we come together and fight for access to resources and treatments.

This year, as we celebrate Niemann-Pick Awareness Month, let’s take a moment to acknowledge the incredible progress we have made as a community. From the tireless efforts of researchers to the unwavering support of families, we are on the path towards better treatments and more support for all people impacted by this disease.

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. Learn how to use our custom-designed template to tell the world about your connection to Niemann-Pick. Use our social media profile badges to show your support. Visit our awareness month website 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.