The Benefits of Having a Great Local Care Team

Jill Beirl

Most patients and families in the Niemann-Pick community are too familiar with the need to travel to access the specialized medical care they need. Among our many services at NNPDF, patients often turn to us to find hospitals and doctors that have specific experience in treating Niemann-Pick disorders. We maintain a list of Comprehensive Care Centers that can help patients and families have access to Niemann-Pick specialists.

Despite these efforts, in many cases patients do not live in areas where medical specialists with experience in Niemann-Pick disease are nearby. They must then depend on non-specialists for much of their routine and emergency medical care. In these cases, it is important for patients and caregivers to identify the best strategies and options to build a strong local care team. These efforts are essential to make sure that patients have access to the full range of care services they need. 

By taking the time to research and build a strong local care team, patients can access a range of benefits including convenience, faster access to care, less time off from work or school, reduced costs and the comfort of knowing that support is available close to home if there is an emergency.

The best local team can differ significantly for different patients based on their health status and needs.  At a minimum, every Niemann-Pick patient should have a dedicated local primary care physician (PCP) to provide support for routine health needs. If the PCP is not familiar with Niemann-Pick disease, the patient and caregiver together should work to provide information about the disease that can help inform and guide treatment. This can also help the PCP be better prepared to monitor patient progress and medications between visits with a specialist and provide referrals as needed.

In addition to the PCP, the local care team might include many other specialists who can play an important role in care, including:  

  • geneticists
  • neurologists
  • gastroenterologists
  • pulmonologists
  • physical therapists
  • speech therapists

Patients should talk to both their PCP and their Niemann-Pick specialist about the different other medical experts they might need as part of a care team. From there, a PCP might be best positioned to help identify specialists in the area who might be a good fit. Once again, it can be helpful to provide every member of a local care team with information about Niemann-Pick disease and the patient’s full medical history.  At NNPDF our Family Resources page offers information that can be easily shared with any member of a medical team.

In any community, you might start a search for a PCP or other specialists by asking friends and family members for a referral. If you need assistance finding a physician, there are also several helpful online websites including ZocDoc, MediFind, and Vitals that can help identify doctors in your area.

NNPDF also often works with patients and caregivers to help identify medical experts who are available to work with patients at every step of their Niemann-Pick journey. Our experts are available to provide guidance and access to resources that can help you find local physicians and materials and strategies that can help make sure that your team is able to provide you with the very best support possible. For more information or if you have any questions, please reach out to us at [email protected].

 

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November-December 2022 Newsletter

Jill Beirl

Message from the Executive Director  |  We Remember Them  |  The Benefits of Having a Great Local Care Team  |  Dangerous Blues by Stephen Policoff  |  Gift Ideas Supporting the NNPDF  |  AmazonSmile  |  NPC Survey Opportunity  |  ASMD Accelerate  |  NPC Sibling Study |  Clinical Trial Updates  |  Community News Updates  |  Fundraising  |  Surveys & Studies  | Membership  |  Emergency Hardship Program

Message from the Executive Director and Board Chair

Dear NNPDF Community,

It is hard to believe that we are just weeks away from the end of 2022. And once again this has been a monumental year with many important developments for our community. We are  very pleased to have this opportunity to wish you and your family all the best for the New Year and to reflect on some of the important events of 2022.

Heading into 2023, NNPDF will work to expand our efforts and build on the momentum in 2022 in many new ways. We will continue to support and participate in research initiatives and other programs that can help leaders in government, industry, and advocacy better understand the impact of Niemann-Pick disease. We will continue to work with regulators to encourage them to consider the essential new approaches in clinical research that can lead to more new treatments in the years ahead. We also remain committed to fighting for access to treatment for the entire community and will not stop until ALL people affected by ALL types of Niemann-Pick disease have access to life-changing therapies. As the Niemann-Pick landscape changes and treatments do become available, we will also expand support to help families manage issues related to insurance, working with their providers, and life planning.

End-of-year is also a great time to recognize the many examples of strength and determination from our community and thank all the people – healthcare leaders, patients, families, researchers, donors, and industry partners – who supported our work at NNPDF. As we look back on the year, we are so encouraged by the amazing commitment of so many members of our community. We might be small, but we are mighty. The last year has shown us what is possible when we stay strong and work together.

Thank you again for your continued support. We are confident that in 2023 we will break many more barriers and reach new levels of change for the community. The battle is not over, but there is more hope on the horizon than ever before.

From all of us at NNPDF, have a safe and happy holiday.

Sincerely,
Joslyn Crowe, NNPDF Executive Director
Becky McGuire, NNPDF Board Chair

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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.

The Benefits of Having a Great Local Care

Most patients and families in the Niemann-Pick community are too familiar with the need to travel to access the specialized medical care they need. Among our many services at NNPDF, patients often turn to us to find hospitals and doctors that have specific experience in treating Niemann-Pick disorders… Check out our latest blog post entitled The Benefits of Having a Great Local Care Team.

Dangerous Blues by Stephen Policoff

Congratulations to Stephen Policoff, Niemann-Pick community member, on his recently published book Dangerous Blues. Stephen has generously cited NNPDF as the organization to which he wishes to donate a percentage of the royalties. Steven’s daughter Anna lost her battle in 2015 of NPC-related causes. This novel is dedicated to Anna and to his wife Kate, who also passed away in 2012.

Gift Ideas Supporting the NNPDF

Looking for a gift idea? Check out our Books and Publications webpage. Here you’ll find books authored by Niemann-Pick community members who have expressed themselves in books or other publications. Also included are books by authors that help raise awareness of Niemann-Pick Disease.

Shop AmazonSmile for the Holidays​

When you shop AmazonSmile this holiday season, be sure to designate National Niemann-Pick Disease Foundation as your favorite charity! It’s an easy way to make an impact for Niemann-Pick families. Shop AmazonSmile and Amazon will donate to the NNPDF. It’s easy! Learn more and sign up. You shop. Amazon gives.

NPC Survey Opportunity

Quality of life experience in patients with Niemann-Pick disease Type C during the COVID-19 pandemic

Are you an adult who has been diagnosed with Niemann-Pick disease type C (NPC) or the parent/caregiver of someone who has been diagnosed with NPC? If so, we would like to invite you to take part in our research study looking at quality of life in those with NPC. Learn more about this study.

Research reminder from Wylder Nation and NNPDF

Wylder Nation and NNPDF are still enrolling for ASMD Accelerate! Every child’s story can make a difference for the future of ASMD care.

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

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

NPC Sibling Study

NNDPF, APMRF, Firefly Fund, and NP Canada have chosen to partner with the International Niemann-Pick Disease Registry (INPDR) moving forward and to continue the NPC sibling study through the INPDR. The INPDR is the Niemann-Pick specific patient registry which is led and governed by the Niemann-Pick community. We are recommending that all NPC families who have shared their loved one’s data with AllStripes have their data transferred to INPDR. This is completely voluntary and each family’s decision is respected. We have worked with AllStripes and the INPDR to ensure that this is a user-friendly and fairly simple process for families.

For information on how to easily share you loved one’s records with the INPDR, or if you have any questions, please contact us at [email protected].

Clinical Trial Updates

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

Update from IntraBio:  IntraBio Ltd. is pleased to confirm that it has completed recruitment for its Pivotal Trial, Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study (IB1001-301). Read the complete announcement.

Update from IntraBio:  IntraBio Ltd. is pleased to share that IB1001-301 has enrolled over 70% of the target number of patients in the second month of recruitment. Recruitment is expected to be completed by December 2022. Read the complete announcement.

Community News Updates

Update from Mandos Health:  Mandos Health has shared the following November 2022 update with the NNPDF. Read the complete update.

Update from KemPharm:  KemPharm has shared the following news release with the NNPDF, reporting their third quarter 2022 results. Read news release.

Fundraising

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

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

THANK YOU to Julie Patenaude, Kit Neal Hensler, Charlotte Gibier, Jeff Padden, Donna Norberg, Joyce Gurtatowski, JoAnn Williamson, and Anne OConnor-Smith 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!

Surveys, Studies, & Market Research

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

NNPDF Membership

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

Click here to update or enroll today!

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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

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

            

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October 2022 Newsletter

Jill Beirl

Niemann-Pick Awareness Month  |  NNPDF In Action  |  Celebrating #NiemannPickChampions  |  Global Niemann-Pick Disease Awareness Day  |  Bringing Holiday Cheer  |  In the Spotlight  |  ASMD Accelerate  |  Pfrieger’s Digest  |  Clinical Trial Updates  |  Fundraising  |  Surveys & Studies  | Membership   |  Emergency Hardship Program

Niemann-Pick Awareness Month

Thank you to every #NiemannPickChampion for helping us continue to raise awareness of Niemann-Pick disease this October!  Together, your voices amplify our efforts to change the course of this rare disease.  Thank you for supporting NNPDF!

Niemann-Pick Awareness Month
#NiemannPickChampion

NNPDF In Action

Joslyn Crowe, NNPDF Executive Director and Kari Lato, NNPDF Board of Directors at the 2022 NORD Rare Summit. NNPDF is a member of the Rare & Ready Coalition.

Joslyn Crowe, NNPDF Executive Director with Sanofi’s Eric Racine, Vice President & US Country Head, Public Affairs & Patient Advocacy at Sanofi, and Stephen Meunier, Head of US Public Affairs & Patient Advocacy for Rare Disease, at Sanofi’s Patient Advocacy Council in Washington DC.

Joslyn Crowe with the Sanofi team at NORD Rare Summit viewing their poster on Survival of Patients with Acid Sphingomyelinase Deficiency in the United States: A Retrospective Real-World Study.

Celebrating #NiemannPickChampions during Niemann-Pick Awareness Month

As we celebrate Niemann-Pick Awareness Month this October, the National Niemann-Pick Disease Foundation will use this important observation to highlight and recognize many of the significant accomplishments achieved by members of our community over the last year. We can take this opportunity to recognize so many of our “Niemann-Pick Champions,” including heroic efforts by patients, caregivers, researchers, clinicians, and advocates who have contributed to making a positive difference in many ways. Champions from our community have helped us make historic progress in research and efforts to build awareness. So many have joined in efforts to help others. Our Champions are reaffirming our commitment to fighting for more treatments and services to support ALL people impacted by ALL types of Niemann-Pick disease and are continuing the fight to make access to care possible for everyone living with Niemann Pick disease. Read complete article.

Global Niemann-Pick Disease Awareness Day: The International Fight Continues

By Joslyn Crowe

Each year on the 19th of October the National Niemann-Pick Disease Foundation joins with the global community of patients, parents, caregivers, clinicians, and researchers in recognizing Global Niemann-Pick Disease Awareness Day. This day represents an international effort to build broader awareness of the impact this disease has on patients and families and is an important opportunity for all of us to join forces and raise our voices to highlight the issues affecting our community in countries around the world. It is also a time to reflect on the progress and challenges of the past year and to think critically about how we can all work together to have an even bigger impact in the coming years. As we celebrate the progress made in the past year, we can also reinforce our commitment to ensuring that ALL people impacted by ALL types of Niemann-Pick in ALL parts of the world have access to treatments, services and programs that can make a positive impact on their lives. Read complete article.

Bringing Holiday Cheer

NNPDF is fortunate to share that an anonymous donor has offered to help make the holidays a little brighter for Niemann-Pick Families! Our donor family wishes to help ease the burden of Holiday stress while promoting family togetherness and enjoyment by helping to bring some cheer to your family by providing wish list items. All NNPDF members residing in the US are eligible to submit an application to be considered for funding for the Bringing Holiday Cheer program. Application deadline is Friday, November 18th at 5pm ET. Click here for complete details.

 

Travis Obermeyer

Dad to Austin, ASMD
NNPDF Board of Directors

Tell us a bit about yourself.
Our family lives in the beautiful mountains of the Blue Ridge in North Carolina. We enjoy walking at the park, watching sports and spending time together on the Blue Ridge Parkway. Our vacation of choice is camping, as we love the solitude of being in God’s nature.

When did you receive Austin’s diagnosis and what led to this?
Austin’s pediatrician first noticed there was something off during his 15-month checkup when his liver was enlarged. Susan and I took Austin to the hospital that night for a series of tests with initial thought of Leukemia. All these tests were negative. After 6 months of further blood tests, ultrasounds, liver biopsy, enzyme tests etc., it was initially determined that he had Gaucher disease. However, upon further examination it was later confirmed to be ASMD (type B).

How did you learn about NNPDF?
We first learned about NNPDF through our geneticist at the time. Our family was lucky that she had trained under Dr. Wasserstein in NY and was familiar with ASMD in many facets.

What led you to get involved with NNPDF as a family and recently, as a Board Member?
I believe that as a parent you are the best advocate for your family and children’s well-being. Naturally that progresses to getting involved as much as possible and help any way to find new treatments/cures for the disease. I am a parent first and I want to fight and have a voice for Austin and other boys/girls and men/women that cannot fight for themselves.

How has being an NNPDF member supported your family?
NNPDF has helped our family most by creating connections. Connections with pertinent and accurate information. Connections with providers of treatment. Connections with other families going through similar circumstances.

What advice would you share with newly diagnosed families?
Dive in and learn about the disease as much as possible. Ask questions, no question is a bad question, we have all been in the same situation you are in. Again, as I said before, as a family member, friend or diagnosed individual you are your own best advocate. At first you may be overwhelmed with the plethora of information. Focus on what is important to you and reach out to NNPDF and connect with other families.

What are your hopes for the future for your family and for the Niemann-Pick community?
Ultimately, I am hopeful that NNPDF will continue to be instrumental in fostering the discovery of new treatments/cures for ASMD and NPC.

Research reminder from Wylder Nation and NNPDF

Wylder Nation and NNPDF are still enrolling for ASMD Accelerate! Every child’s story can make a difference for the future of ASMD care.

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

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

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 the latest issue.

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 publication of Phase 1 data for Trappsol® Cyclo™ for the treatment of Niemann-Pick Disease type C1. Read complete update.

Update from IntraBio:  IntraBio Ltd. is pleased to confirm the Phase III pivotal trial with N-acetyl-L-leucine (IB1001-301) is active and recruiting in the United States at the Mayo Clinic, MN. Read the complete announcement.

Fundraising

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

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 Krissy Florkiewicz, KayLa Miller, Sherri Sykes Lewis, and Kevin Xie 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!

Surveys, Studies, & Market Research

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

NNPDF Membership

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

Click here to update or enroll today!

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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

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

            

Supporting one another. Supporting our community.

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Global Niemann-Pick Disease Awareness Day: The International Fight Continues

Jill Beirl

By Joslyn Crowe

Each year on the 19th of October the National Niemann-Pick Disease Foundation joins with the global community of patients, parents, caregivers, clinicians, and researchers in recognizing Global Niemann-Pick Disease Awareness Day. This day represents an international effort to build broader awareness of the impact this disease has on patients and families and is an important opportunity for all of us to join forces and raise our voices to highlight the issues affecting our community in countries around the world. It is also a time to reflect on the progress and challenges of the past year and to think critically about how we can all work together to have an even bigger impact in the coming years. As we celebrate the progress made in the past year, we can also reinforce our commitment to ensuring that ALL people impacted by ALL types of Niemann-Pick in ALL parts of the world have access to treatments, services and programs that can make a positive impact on their lives.

At NNPDF, we are dedicated to working to expand access to the care and support services that can help diagnosed individuals and caregivers manage a wide range of emotional, financial, and medical challenges. We are also dedicated to raising broader awareness on a global scale so that more people will understand the experience of living with NPD and more diagnosed individuals will get the help they need. We regularly meet with leaders in government and industry to ensure that they understand the challenges that patients and caregivers face every day. We collaborate with partners to conduct research that sheds new light on the issues affecting patients and caregivers in our community. We also worked tirelessly to develop and support initiatives that can help expand access to treatment. This is also a year where we experienced some historic moments with the approvals of a first treatment for ASMD in the U.S., Europe, Japan, and Brazil. This landmark event is an example of what we can achieve for the global community when we work together.

Reflecting on our achievements this past year, including the approval of a drug to treat ASMD, it’s clear how critical collaboration is in our field. Our community’s successes often come from collective efforts and shared knowledge. In much the same way, we continually seek new partnerships that offer mutual benefits, just as B2Cs lista över casinon utan spelpaus provides a resourceful database for players, listing gaming platforms without certain restrictions. This approach to shared information exemplifies our commitment to working with partner advocacy organizations, pooling resources, and supporting initiatives like the International Niemann-Pick Disease Registry. Through these collaborations, we gather vital data that strengthens our advocacy and empowers patients worldwide.

The challenges and accomplishments of the past year demonstrate that our global community is stronger than ever. We have come a long way, but the fight is not over. Let us continue working together, reaching across borders, staying hopeful, and fighting for our community’s right for access to life-changing treatments. The battle continues.

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Celebrating #NiemannPickChampions during Niemann-Pick Awareness Month

Jill Beirl

As we celebrate Niemann-Pick Awareness Month this October, the National Niemann-Pick Disease Foundation will use this important observation to highlight and recognize many of the significant accomplishments achieved by members of our community over the last year. We can take this opportunity to recognize so many of our “Niemann-Pick Champions,” including heroic efforts by patients, caregivers, researchers, clinicians, and advocates who have contributed to making a positive difference in many ways. Champions from our community have helped us make historic progress in research and efforts to build awareness. So many have joined in efforts to help others. Our Champions are reaffirming our commitment to fighting for more treatments and services to support ALL people impacted by ALL types of Niemann-Pick disease and are continuing the fight to make access to care possible for everyone living with Niemann Pick disease.

Over the past year, we have been so grateful to the patients and caregivers who have participated in meetings, shared their voices in webinars, posted information on social media, and interacted with local media and community leaders to make sure the needs of our community are being heard. Our Champions also include many dedicated clinicians and researchers who have continued to move research forward to help our community find more paths that can lead to new treatments. Every person who has advocated for our community in even the smallest way is Niemann-Pick Champion and we thank you for your continued support.

One of the greatest moments our community experienced this past year was the historic approval of a first ever treatment for ASMD in the U.S., Europe, and Japan. This landmark event is the result of years of dedication by so many stakeholders in industry as well patients, families, and other members of advocacy communities, and it shows what is possible when we join together in a common goal. We should all see this milestone not as an end, but as a beginning and a chance for renewed hope. All of our Champions know that there are many other members of our community who are still waiting on research to bring them a treatment. Working with Champions at every level, NNPDF remains dedicated to advocating for patients and caregivers and we will not stop until all people affected by all types of Niemann-Pick disease have access to the care they need.

Throughout October, we invite all of the members of this amazing community to join with NNPDF in recognizing and celebrating the #NiemannPickChampions in your life. Learn how to use our custom-designed template to tell the world about your Niemann-Pick Champion. Create your own social media profile frame to show your support. Visit our awareness month website page to learn more about how you can be an advocate and get involved.  We call our community leaders and dedicated individuals “Champions” because together we can win this battle and achieve our mission of bringing a future of better health and hope to every member of the Niemann-Pick disease community.

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Message from the Executive Director

Jill Beirl

Who’s your #NiemannPickChampion?

October is Niemann-Pick Awareness Month! These next few weeks are an especially important time to tell your family stories on your experiences with Niemann-Pick Disease. Show everyone who’s your #NiemannPickChampion! There is no better time to increase awareness of Niemann-Pick Disease and to educate friends, policy makers, clinicians, and others about this rare disease.

The Niemann-Pick community is filled with champions – champions impacted by this disease everyday, fighting for approved treatments, working towards a cure, and champions keeping the memories of those who have passed.

Over the course of the month, we will offer a range of activities to highlight the community’s #NiemannPickChampion(s) and to promote Niemann-Pick awareness through educational information and social media posts you can share, virtual forums to connect with NNDPF staff and Board members for community conversations, awareness events with our pharmaceutical partners, and of course, we will join with our INPDA partners on October 19th for Global Niemann-Pick Awareness day.

Receiving a rare disease diagnosis can be a devastating and emotional experience. NNPDF is dedicated to an enduring patient support community that embodies strength, hope and empathy for those affected by all Niemann-Pick disease types. We work tirelessly to support and advocate for access to treatments and supports that can make a positive difference in helping affected individuals and caregivers manage a wide range of emotional, financial, and medical challenges. Through our work, families know they are not alone and that an entire community of caring people is  standing alongside them in their journey.

For over 30 years, NNPDF has been a leader in advocating for the needs of all members of the Niemann-Pick community, in support of every #NiemannPickChampion, by connecting our voice with leaders in research, industry, and government at every level who can  help make a significant difference in the lives of those impacted by Niemann-Pick disease.  The battle continues, but we will never give up the fight.

Warm Regards,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

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September 2022 Newsletter

Jill Beirl

Message from the Executive Director  |  Niemann-Pick Awareness Month  |  Community Connections Opportunities  |  Family Support & Medical Conference Recordings  |  Cyclo Therapeutics Patient Newsletter  |  Orphanet Publication Alert  |  ASMD Accelerate  |  LinkedIn Pulse: US Approval of Xenpozyme  |  CheckRare: FDA Approves Olipudase Alfa  |  Fundraising  |  Social Services Resource  |  Surveys & Studies  | Membership   |  Emergency Hardship Program

Message from the Executive Director

Who’s your #NiemannPickChampion?

October is Niemann-Pick Awareness Month! These next few weeks are an especially important time to tell your family stories on your experiences with Niemann-Pick Disease. Show everyone who’s your #NiemannPickChampion! There is no better time to increase awareness of Niemann-Pick Disease and to educate friends, policy makers, clinicians, and others about this rare disease.

The Niemann-Pick community is filled with champions – champions impacted by this disease everyday, fighting for approved treatments, working towards a cure, and champions keeping the memories of those who have passed.

Over the course of the month, we will offer a range of activities to highlight the community’s #NiemannPickChampion(s) and to promote Niemann-Pick awareness through educational information and social media posts you can share, virtual forums to connect with NNDPF staff and Board members for community conversations, awareness events with our pharmaceutical partners, and of course, we will join with our INPDA partners on October 19th for Global Niemann-Pick Awareness day.

Receiving a rare disease diagnosis can be a devastating and emotional experience. NNPDF is dedicated to an enduring patient support community that embodies strength, hope and empathy for those affected by all Niemann-Pick disease types. We work tirelessly to support and advocate for access to treatments and supports that can make a positive difference in helping affected individuals and caregivers manage a wide range of emotional, financial, and medical challenges. Through our work, families know they are not alone and that an entire community of caring people is  standing alongside them in their journey.

For over 30 years, NNPDF has been a leader in advocating for the needs of all members of the Niemann-Pick community, in support of every #NiemannPickChampion, by connecting our voice with leaders in research, industry, and government at every level who can  help make a significant difference in the lives of those impacted by Niemann-Pick disease.  The battle continues, but we will never give up the fight.

Warm Regards,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

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Niemann-Pick Awareness Month

October is Niemann-Pick Awareness Month! Support One Another and Support Your Community by raising awareness and educating others about Niemann-Pick Disease in your community. With your help in spreading awareness, we will make a difference for families at all stages of the Niemann-Pick journey and help us deliver hope!

This month we want you to share your #NiemannPickChampion! Learn how to use our template to make and share your Niemann-Pick Champion and make your own social profile frame to show your support of your Niemann-Pick community.

Visit Niemann-Pick Awareness Month webpage to learn more about how you can be an advocate for those affected by Niemann-Pick disease by spreading awareness in your own community.

   

Community Connection Opportunities

Connect with NNPDF Families, Board of Directors, and Family Services Manager, Laurie Turner during Niemann-Pick Awareness Month. NNPDF will be hosting several options for gathering and connecting virtually starting on October 5th!

Please join us for Coffee and Catching Up and Community Connections: Catching Up virtual gatherings. We look forward to sharing time together – to take a break and reconnect with other Niemann-Pick community members. Be sure to register in advance.

Family Support & Medical Conference Recordings & Photos

THANK YOU to all that joined us in-person and virtually for our 30th Annual Family Support & Medical Conference! We were so happy to see all your smiling faces. It was a wonderful time of sharing, supporting and learning.

For those that were unable to join the conference or if you’d like a review, the 2022 family conference recordings and photos are now available. 

Our Family Support & Medical Conference was a success due to many supporters: from our sponsors and speakers, to our board, staff and volunteers. We THANK YOU for all that you have done to support our family conference.

Cyclo Therapeutics Patient Newsletter

Featuring the Powerful Story of Dee Reynolds

Cyclo Therapeutics’ recently published their patient newsletter featuring Dee and Dan Reynolds. Dee was diagnosed with NPC when she was in her 40s after many years of unexplained symptoms. She and her husband Dan are very well-known advocates – and friends – in the Niemann-Pick community. Here they answer some questions about receiving a diagnosis of NPC later in life and give some advice to families who may have similar journeys. Thank you for sharing your story.

Orphanet Publication Alert!

Our peer-reviewed journal article titled “Health insurance literacy and health access barriers in Niemann-Pick disease: the patient and caregiver voice” was recently published in Orphanet. NNPDF were co-authors on this publication along with Dr. George Diaz based on the large research study we completed previously. Perfect timing in the same week as Xenpozyme’s FDA approval for the treatment of ASMD!

This publication will be a useful resource for payers and decision makers as we look to ensure availability, access, and reimbursement for Xenpozyme now, as well as in the future for our NPC therapies.

ASMD Accelerate is Still Enrolling!

Wylder Nation and NNPDF are still enrolling for ASMD Accelerate! Every child’s story can make a difference for the future of ASMD care.

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

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

LinkedIn Pulse: US Approval of Xenpozyme

NNPDF Celebrates Monumental Milestone with the First U.S. Approval for ASMD:  The National Niemann-Pick Disease Foundation joins with patients and families in the U.S. and the entire global Niemann-Pick community in celebrating this historic advance in research: the first-ever U.S. approval of a treatment for ASMD! For more than 20 years, NNPDF has worked to support patients and families impacted by ASMD (acid sphingomyelinase deficiency) by raising awareness and advocating for research that can lead to life-changing therapies. Read complete article.

 

CheckRare: FDA Approves Olipudase Alfa

FDA Approves Olipudase Alfa To Treat Acid Sphingomyelinase Deficiency in Both Children and Adults:  The U.S. Food and Drug Administration (FDA) has approved olipudase alfa for intravenous infusion in pediatric and adult patients with Acid Sphingomyelinase Deficiency (ASMD).

ASMD is an autosomal recessive genetic disorder caused by mutations in the SMPD1 gene. That gene encodes for acid sphingomyelinase (ASM), an enzyme that metabolizes sphingomyelin. ASMD is also knows as Niemann-Pick disease types A, A/B, and B. Olipudasae alfa is an enzyme replacement therapy designed to replace the deficient or defective ASM. Read complete article.

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!

Bowie Baysox Benefit

THANK YOU to the friends and family of Mark and Darrile Papier who recently hosted their 16th Annual Bowie Baysox Benefit in memory of their son Dillon. The Baysox Benefit was a success with lots of raffle baskets, jewelry, gift certificates, food, and very exciting game finale with the Baysox losing until the last batter blasted a walk off homerun scoring 2 to win the game! A special guest in attendance – Liam Ferguson – was surprised with throwing the first pitch before Mark Papier.

     

THANK YOU to Stacy Stemmerman, Lane Hemsley, Stacy Tillotta, Vera Stricklin, Natalie Johnson, Kevin Nettesheim and Larissa Ross 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!

Social Services Resource

The journey with those affected by Niemann-Pick disease can be long and complex with caregivers wearing multiple hats. Little Hercules has provided a tool to search for national, state, regional, private, and public programs that can help you with whatever you need. Search for free or reduced cost services like medical care, co-pay assistance, food, utility assistance, transportation, disability programs, and more. Start your search by entering your zip code. Visit littlehercules.auntbertha.com for more information.

Contact Laurie Turner at [email protected] for any questions.

Surveys, Studies, & Market Research

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

NNPDF Membership

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

Click here to update or enroll today!

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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

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

            

Supporting one another. Supporting our community.

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NNPDF Celebrates Monumental Milestone with the First U.S. Approval for ASMD

Jill Beirl

The National Niemann-Pick Disease Foundation joins with patients and families in the U.S. and the entire global Niemann-Pick community in celebrating this historic advance in research: the first-ever U.S. approval of a treatment for ASMD!

For more than 20 years, NNPDF has worked to support patients and families impacted by ASMD (acid sphingomyelinase deficiency) by raising awareness and advocating for research that can lead to life-changing therapies. While we have faced many challenges in the effort to bring new treatment options to patients who desperately need them, today we can see a sign of hope for the ASMD community and for all patients living with Niemann-Pick disease.  

The U.S. Food and Drug Administration (FDA) has announced the approval of Xenpozyme (olipudase alfa) for intravenous infusion in pediatric and adult patients with ASMD. Xenpozyme is an enzyme replacement therapy that has been shown to help reduce sphingomyelin accumulation in the liver, spleen, and lung. The efficacy of Xenpozyme for the treatment of ASMD was demonstrated in a controlled study of 31 patients. Based on results from the study, the FDA was able to conclude that Xenpozyme is effective and that treatment helped to improved lung function and reduced liver and spleen size in patients.

NNPDF would like to take this opportunity to recognize the hard work of many people including regulatory and industry leaders who have made this milestone possible. We applaud Sanofi for their commitment to moving this program forward. We also want to emphasize that this approval would not have been possible without the patients and families who participate in clinical research and who use their voices and stories to raise awareness of the need for treatments and support.

More than anything, this life-changing moment is an example of what we can accomplish when we work together. Hopefully, this will bring new levels of momentum and dedication to promising research moving forward. The Niemann-Pick community is resilient and thanks to the bravery and persistence of patients and families, people living with ASMD in the U.S., Europe and Japan can now have access to an approved treatment.

We are so happy to see this amazing progress and will use this to fuel us on our journey to finding approved treatment options for all people impacted by all types of Niemann-Pick.

Supporting one another. Supporting our community.

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Summer 2022 Newsletter

Jill Beirl

APPROVAL! Xenpozyme for Treatment of ASMD ​  |  Community Update Series: Xenpozyme
Message from the Board Chair  |  2022 Family Support & Medical Conference Recap
NNPDF 2022 Awards  |  NNPDF 2022 Board of Directors |  NNPDF Welcomes New Board Members
Duke-Margolis Center Webinar  |  ASMD Accelerate  |  AllStripes Update
ACT for ALS Workshop  |  NNPDF In Action  |  Clinical Trial Update
Fundraising  |  Membership   |  Emergency Hardship Program

APPROVAL!!

Xenpozyme (olipudase alfa) for Treatment of ASMD

We are pleased to share the U.S. Food and Drug Administration (FDA) has approved Xenpozyme™ (olipudase alfa-rpcp) for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients! Xenpozyme is the first therapy indicated specifically for the treatment of ASMD, and is currently the only approved treatment for this disease.

This has been a long road and the ASMD community played a vital and persistent role in bringing this medicine through the trials process and to an approval.  We are incredibly pleased that we now have a first approved medicine in the Niemann-Pick community.

Read Sanofi press release.
Read FDA press release.

Community Update Series presents: Xenpozyme (olipudase alfa) update with Sanofi’s Patient Supports Services

Join us for a community meeting with Sanofi’s Patient Supports Services as they share more information regarding the approval of Xenpozyme treatment of ASMD.

Wednesday, September 7th, 2022
8:00 pm ET
Join Zoom Meeting

Message from the Board Chair

Dear, NNPDF Community,

As the conference came to a close this year, I was reminded of the strength of our community yet again. Our community gathered in-person and virtually during this year’s conference and I could not be prouder of our PERSEVERENCE through all that our community has faced in the past year. Our conference not only symbolized but brought to life the endurance and insurmountable strength of who we are when we are all together. We support each other and support our community. Thank you to all who participated, from our families, our clinicians, researchers, scientists, and sponsors.

Thank you for the incredible moments at our conference, from pointed questions, extraordinary feedback, love shared, siblings uniting, and dance moves like no one was watching. It was an honor hosting the INDPA. Partnership and strategy are at the forefront of everyone’s intentions and execution of initiatives. Thank you to all for the conference, it was not only informative for so many, but collaborative and just downright refreshing to see old friends and new.

The momentum from the conference has continued on in the work that we do. We have collaborated with industry and families to elevate our voices and we will keep our eyes on all that our families face and how we can help. My wish, as I start my tenure as Board Chair, is to continue the trajectory of the foundation with an incredible board and staff. Our voices and our community have come so far and we still have a long way to go, but I have faith that our efforts combined are going to impact the lives of our loved ones now and in the future.

The recordings will be available in the upcoming weeks. We hope that you were able to joyfully connect, meet new families, reconnect with friends, and truly live in this journey knowing that you are supported and loved by us all. We say it often, but it never loses its power, we may not be the family you ever wanted to have, but we are the family that will never leave your side. No matter where you are on this journey, your voice will be heard, you have us to lean on, and we remain founded in our roots. We believe deeply in the future of research that promotes clinical treatments with potential to improve patient quality of life and with intent to ultimately treat and cure all Niemann-Pick disease types.

Warm Regards,


Becky McGuire
NNPDF Board Chair

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NNPDF Family Support & Medical Conference

THANK YOU to all that joined us in Orlando and virtually for the 30th Annual Family Support & Medical Conference. We were so happy to meet with you in person! New friendships and connections were made, we learned more about each other, and how we can help one another to grow as a community in the US and abroad.

In the upcoming days we will be sharing links to the LiveStream sessions and photos of the event.

Thank You to our Family Support & Medical Conference Sponsors

NNPDF Award Recipients

We are honored to present our 2022 award recipients! Thank you for the impact you have in the Niemann-Pick community and your chosen career paths. Congratulations!

Endurance Award 2022 - Sousa
Persevere Award
Dr. Ed Schuchman
NNPDF Cora Sterling
Endurance Award
Christopher Sousa
ASMD Scholarship Award 2022 - Visoky
Joele Ruppert & Joseph Colton
ASMD Scholarship
Yasmin Markman
Joele Ruppert & Joseph Colton
ASMD Scholarship
Jack Visoky

NNPDF 2022 Board of Directors

We are honored to present your 2022 NNPDF Board of Directors. NNPDF Board members generously volunteer their time and energy to keep your family support organization moving forward and are essential in the progress of Niemann-Pick Disease awareness. Thank you to each of you for serving in these vitally important roles.

FRONT ROW:  Becky McGuire (Board Chair), Paul Merrigan, Travis Obermeyer, Cara Gilmore, Anthony Leoni, and Kari Lato.  BACK ROW:  Joslyn Crowe (Executive Director), Gail Koujaian, Taylor Sabky, Mary Francis Harmon, Liz Heinze (Vice Chair), Meghann Ferguson (Secretary), and Mike Smith (Treasurer).

NNPDF Welcomes New Board Members

We are proud to welcome the following incoming Board Members to the NNPDF team: Gail Koujaian, Travis Obermeyer, and Taylor Sabky. Learn more about them.

Sabky Taylor SQR 2022

Gail Koujaian
Mother of Alec,
and Hayley (In Memory), NPC

Travis Obermeyer
Father of Austin, ASMD

Taylor Sabky
Mother of Purnell
(In Memory), ASMD

Duke-Margolis Center Webinar

On August 4th, the FDA and Duke Margolis Center for Health Policy held a webinar on Endpoint Considerations to Facilitate Drug Development for Niemann-Pick Type C which discussed key themes from the January 2022 public workshop.   Discussion included a review of challenges, and opportunities for endpoint selections in NPC to support product development.

The recording for this webinar is available here.

This discussion was focused on a longer-term view of drug development including the importance of biomarkers and endpoints in NPC drug development. NNPDF recognizes the importance of these scientific areas and will continue to work in partnership with all NPC community organizations and foundations to assist with biomarker development. Our goal as a national patient organization is to ensure that we simultaneously continue to ensure attention and focus on our investigational therapies currently in development and continue to find paths to move to approved therapies expediently.

It’s not too late to join ASMD Accelerate!

Join ASMD Accelerate to support the ASMD research community and improve care! Thank you to the 15 families who have contributed their child’s de-identified medical data in support of ASMD research. We are 60% of the way to our goal and still enrolling for this incredibly important study. Your help can shape the future of ASMD care.

Signing up for ASMD Accelerate takes less than 10 minutes and PicnicHealth will do the hard work of collecting your child’s records on your behalf. Enroll today by visiting picnichealth.com/asmd-wylder-nation or email [email protected] with any questions.

AllStripes Update

AllStripes recently informed NPC families that with deep regret they will no longer be supporting the NPC Sibling Study. In response to broader economic downturn, AllStripes is reprioritizing its resources so that they may continue to sustainably support rare disease research. Unfortunately, this means that they cannot continue resourcing several studies, including the NPC sibling study.

We (NNDPF, APRMF, Firefly Fund, and NP Canada) have chosen to partner with the International Niemann-Pick Disease Registry (INPDR) moving forward and to continue the NPC sibling study through the INPDR. The INPDR is the Niemann-Pick specific patient registry which is led and governed by the Niemann-Pick community. We are recommending that all NPC families who have shared their loved one’s data with AllStripes have their data transferred to INPDR. This is completely voluntary and each family’s decision is respected. We have worked with AllStripes and the INPDR to ensure that this is a user-friendly and fairly simple process for families.

For information on how to share you loved one’s records with the INPDR, or if you have any questions, please contact us at [email protected].

Virtual Roundtable Discussion of the ACT for ALS Bill

In July 2022 NNPDF held a roundtable discussion on the Accelerating Access to Critical Treatments for ALS ACT, which is designed offer grants and other financial incentives to support expanded access programs in ALS and other rare neurodegenerative diseases. The forum included 15 U.S. organizations focused on rare neurodegenerative diseases.

A panel of experts provided an overview of the bill including the FDA Action Plan and the Grant Program.

Top findings include:

  • A need to bring representatives from CDER, CBER, and other divisions at the FDA to establish consistency between Centers and form a predictable path for drug development.
  • The option to consider alternatives to placebo trials in ALS.
  • Calls for higher levels of funding.
  • NIH Grant applications are open now for ALS with notification in Sept 2022.

NNPDF will continue to host these forums, our actions for next steps include:

  • A series of quarterly discussions to continue to invite community perspectives on program execution.
  • Updates on the logistics of the FDA Grants Program as they become available.
  • Review of  the benefits of a new alliance  of organizations in rare neurodegenerative diseases to represent community interests with a stronger voice.

NNPDF In Action

Evren Ayik, and Justin and Garrett Hopkin attend Sanofi’s 2022 TORCH Awards in Cambridge, Massachusetts.

Justin Garret 2022 TORCH Awards

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 Sanofi:  We are pleased to share the U.S. Food and Drug Administration (FDA) has approved Xenpozyme™ (olipudase alfa-rpcp) for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients! Xenpozyme is the first therapy indicated specifically for the treatment of ASMD, and is currently the only approved treatment for this disease.

This has been a long road and the ASMD community played a vital and persistent role in bringing this medicine through the trials process and to an approval.  We are incredibly pleased that we now have a first approved medicine in the Niemann-Pick community.
Read Sanofi press release.
Read FDA press release.
Read Xenpozyme press release.

Update from Sanofi:  European Approval! News from Sanofi on Xenpozyme (olipudase alfa): “Xenpozyme® (olipudase alfa) approved by European Commission as first and only treatment for ASMD”. The European Commission (EC) has approved Xenpozyme® (olipudase alfa) as the first and only enzyme replacement therapy for the treatment of non-Central Nervous System (CNS) manifestations of Acid Sphingomyelinase Deficiency (ASMD) in pediatric and adult patients with ASMD type A/B or ASMD type B. Read the press release.

Surveys, Studies, & Market Research

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

Fundraising

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

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

THANK YOU to Stacy Stemmerman, Lane Hemsley, Stacy Tillotta, Vera Stricklin, and Natalie Johnson 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!

NNPDF Membership

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

Click here to update or enroll today!


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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

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

            

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June 2022 Newsletter

Jill Beirl

Message from the Board Chair  |  2022 Family Support & Medical Conference
NPC Family Advisory Working Groups  |  NNPDF Community Survey  |  ASMD Community Survey
ASMD Accelerate  |  Duke-Margolis Center Update  |  Milestones: Willow Hemsley
INPDR Poster Presentation on NPC  |  Community News Updates |  Clinical Trial Updates
Surveys & Studies  |  Fundraising  |  Membership   |  Emergency Hardship Program

Message from the Board Chair

Dear NNPDF Community,

Over the past several months, our NNPDF staff and volunteers have had our eyes on the end of July, hopeful that the world will be in a place where we can all come together safely to meet in person for the 30th Annual NNPDF Family Support & Medical Conference.  Recognizing we all have different levels of comfort with travel and gathering right now, it appears that we are in as good of a place as we could hope for with the meeting only a month away. We are striving to not only make this conference enjoyable and impactful for our entire community but also keep everyone as safe and comfortable as possible. I am deeply appreciative of all those who are working tirelessly to organize this meeting where we can gather, learn, connect, and enjoy. I miss seeing all of you in three dimensions and look forward to catching up in Orlando.

While conference planning has been a key task for the organization over the last few months, the NNPDF remains laser focused on our primary missions of supporting families and advocating for the community. We appreciate your assistance with the feedback many of you have provided through the Community Survey. Your feedback will help us direct services and ensure we remain on course with accomplishing our primary missions 1) advocacy and 2) support for all patients and families throughout their experience with Niemann-Pick Disease. 

Our community continues to persevere as we navigate the trials and tribulations of drug development in the rare disease space. While we have had our share of disappointment and frustration, there is hopeful dialogue and encouraging movement toward needed change in clinical trial design and accepted endpoints.  We hope this evolution will provide the framework for collaborative engagement with industry and regulators to identify disease-modifying therapies through clinical trials that are designed with patients in mind to more clearly identify safe, effective therapies for Niemann Pick.  I’m hopeful that the dialogue from our experts at the conference will continue to move the needle in the right direction.

The conference marks the time of year when we onboard our new board of directors for the NNPDF as other board members complete their terms of service. Our board is a collection of amazing volunteers, and it has been my pleasure to work with them over the last six years to ensure the NNPDF is accomplishing its mission of supporting you. For those of you who attend the conference in person, I invite you to reach out to your NNPDF board members who will be present. They want to hear from you.  Please let them know how we are doing and what we can do to better serve you.

In compliance with our bylaws, it is time for me to step off the board. It has been my honor to help lead the Foundation, and I’m very proud of all that our staff, volunteers, and community have accomplished. Our community has come together to create a stronger national patient organization to meet our needs and amplify our voice to key opinion leaders. While there is always work left to be done, I am supremely confident that we are poised to meet those needs. I look forward to continuing my support of NNPDF as I transition off the board over the next several months and plan to remain involved with several key directives including newborn screening, patient registries, and clinical trial design. The transition in board leadership has literally been years in the making, and I’m thrilled that Becky McGuire will be accepting the role of board chair after serving as vice-chair. She has several years of experience on the board, and her strengths in leadership, communication, and fundraising will be great assets for the Foundation and the community. She has an incredibly talented and caring group of board members around her that will foster the continued growth of the foundation and ensure we meet our mission to serve all of you. I could not be more excited about the direction of the organization based on the leadership and staff we have in place.

Warm Regards,


Justin Hopkin, MD
NNPDF Board Chair

Make A Gift

NNPDF Family Support & Medical Conference

in Conjunction with INPDA Biennial Meeting

 

JOINT CONFERENCE DATES:  July 28 – July 31, 2022
NNPDF:  July 28 – 30  |  INPDA:  July 29 – July 31

Wyndham Grand Orlando Resort Bonnet Creek | Orlando, FL

Conference Registration

Hotel
Information

Conference Information

Conference Deadlines

  • Register by June 24th to get your complimentary commemorative conference shirt.
  • Reserve your hotel by June 27th to receive your hotel accommodations at the discounted group rate. Our special group rate is applicable for the dates of July 23 – August 4, based on availability.

Thank You to our conference Sponsors


LAST CALL: NPC Family Advisory Working Groups

NNPDF will host Family Advisory Working Groups on Thursday, July 28, 2022 from 1:00 pm – 4:00 pm EST, prior to the start of our 30th Annual Family Support & Medical Conference.

Family Advisory Working Groups foster communication between Niemann-Pick families and pharmaceutical & research partners to provide guidance on the patient and family experience. Pre-registration is required.

Family Advisory Working Group participants are eligible for
a 1-night hotel room per family on July 27th (room and tax only)
and up to $350 stipend per participant.

Understanding patient and caregiver perspectives is extremely important to our pharmaceutical industry and research partners working to bring treatments to families. Patients and their families are often the most knowledgeable members of the care team and can offer unique perspectives.

NPC Family Advisory Working Groups Information & Registration

NNPDF Community Survey

We invite you to take part in a brief survey to highlight some of the key issues that are important to members of the Niemann-Pick community. Your responses will help NNPDF develop a better understanding of the issues that are most important to you and your family. Responses will be used to help NNPDF identify the priorities and areas of unmet need in planning for development of new support programs and resources for families at every stage of the Niemann-Pick journey.

In addition to your response, we also invite you to share your thoughts regarding our programs and services and how we can best meet your needs in the months and year ahead. Survey closes on July 4th, 2022.

NNPDF Community Survey

ASMD Community Survey

As olipudase alfa moves through the regulatory process, we are proactively preparing for the next steps, which include speaking with insurance companies and ensuring reimbursement and coverage for patients across the country.  To help us better understand our ASMD population, can you please take a moment to complete the following brief survey? This survey will close on Monday, July 11, 2022.

For assistance or any questions, please contact [email protected].

ASMD Community Survey

It’s not too late to join ASMD Accelerate!

Just over a year ago, Wylder Nation and NNPDF partnered together to launch ASMD Accelerate to support the ASMD research community. To date, we’ve had 15 contribute their child’s de-identified medical data in support of ASMD research!

If you are interested in joining ASMD Accelerate and making a difference in the future of ASMD research, we are still enrolling new members.

This research study is a way your child’s journey can contribute to ASMD research without the need for travel, lab testing, or physical record collection coordination. Additionally, if your child’s journey with ASMD has ended this study can help carry on their legacy and contribute to improving the future of ASMD care.

Signing up for ASMD Accelerate takes less than 10 minutes and PicnicHealth will do the hard work of collecting your child’s records on your behalf. Let us know if you have any questions!

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

Duke-Margolis Center Update

Endpoint Considerations to Facilitate Drug Development for NPC Workshop Summary

Duke-Margolis Center has shared an update related to the January workshop on Endpoint Considerations to Facilitate Drug Development for NPC. Your contributions prior to and during the workshop helped ensure that patients and families were at the center of the conversation and that the event was informative for all NPC drug development stakeholders. The workshop summary is now available.

A brief webinar along with the FDA will be held on Thursday, August 4, from 3:00-4:00 pm ET to provide an overview of the key themes and future directions shared during the January 2022 workshop and presented in this newly released workshop summary report.

The webinar is intended to be another touchpoint for NPC drug development stakeholders on this important topic. Stakeholders will be able to submit questions about the workshop summary in advance of the webinar using this form, and we will get to as many as we can in the webinar format. Please note that the webinar is not intended to cover any new content beyond the January workshop and the workshop summary.

Workshop Summary
Webinar Registration
Questions Submission Form

Milestones: Willow Hemsley

Oh Willow… the places you will go. For as long as I can remember I have dreaded the thought of this day. Willow started school today, at an actual school, and rode a bus to and from… Mom may have been a crazy person who followed the bus and was there to make sure her first bus ride went ok and that she got settled into her classroom with her new teacher. With Willow getting ready to go to Kindergarten in the Fall we figured it was best to give summer school a test run to see how she does. As you can tell from the picture, she was very excited!
– Krystal Samuelson

If you have a special milestone to share, send it to us at [email protected] and we’ll include it in our newsletter or other communications.

INPDR Poster Presentation on NPC

INPDR recently presented a poster titled “Quality of life in patients with Niemann-Pick disease type C and their carers”. This research study was funded by NNPDF, NPUK, and INPDA. View the poster.

Community News Update

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

Clinical Trial Updates

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

Surveys, Studies, & Market Research

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

Fundraising

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

If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!

THANK YOU to the Genesee Regional Bank (GRB) in Rochester, NY and the Vandetta family who recently hosted the “Rock the Bank” fundraiser for NNPDF in a tribute honoring the memory of GRB team member Michael Vandetta and his son, Vinny (ASMD in Memory).  GRB’s own house band, Refer with Caution, brought down the house with a show for the ages. Check out a clip from the event on Facebook at t.ly/Vandetta/FB

THANK YOU to Patricia Steiger, Paul Fonseca and April Thompson 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!

NNPDF Membership

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

Click here to update or enroll today!


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

Emergency Hardship Program

The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.

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

            

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