Remaining Hopeful About NPC Research

Jill Beirl

As members of the community may have heard, pharma company Orphazyme recently made the decision to withdraw its European Marketing Authorization Application (MAA) for arimoclomol for the treatment of Niemann-Pick disease Type C (NPC). According to a press release issued by the company, they will continue to pursue regulatory approval in the U.S. and plan to resubmit a New Drug Application to the U.S. Food and Drug Administration (FDA).

The NPC community has faced several significant setbacks in recent years when promising clinical trials were either cancelled or failed to win FDA approval. This most recent news is frustrating and is another example of how challenging it is to complete research and secure approval for treatments in rare diseases. It also once again highlights the need for us to advocate for safe and effective options in clinical research and regulatory review for NPC drugs and to continue to call for more flexibility and innovation and for more resources and collaboration. These are the strongest paths that will get us to the finish line. 

One of our key priorities at NNPDF is to make sure that data from clinical research including failed or cancelled trials can be available to other researchers and that it does not go to waste. We are committed to staying in communication with industry and regulatory leaders and encouraging them to share data on platforms that are accessible to patients and researchers. One avenue is through the International Niemann-Pick Disease Registry (INDPR), owned and managed by the patient community, and another is through the FDA’s Rare Disease Cures Accelerator (RDCA).

In addition to working with industry and regulators, it is important that our community remain hopeful about all the research efforts that are still underway. Pharma company Cyclo Therapeutics and IntraBio are currently recruiting patients for their phase 3 trials. A company called Azafaros recently announced it has been granted Orphan Drug Designation by the FDA for an investigational treatment for NPC. We should be encouraged by these efforts and remain confident that new treatment options are on the horizon. We also need to make sure that patients continue to have access to therapies that have been shown to deliver clinical benefit.

At NNPDF we are so thankful for the continued support and efforts of patients and families to raise awareness and advocate for more resources that can improve the lives of everyone impacted by NPC. We will continue to provide updates on advances in research and we are continuing to advocate for you in many other important ways. These bumps in the road are just that – bumps in the road. We will not give up on our fight for the community’s right to access to treatment.

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Qualitative Study Highlights Need for Increased ASMD Caregiver Support

Jill Beirl


JAMES MOORE
February 28, 2022
Acid Sphingomyelinase Deficiency, Niemann-Pick Disease

 

 

Written By Joslyn Crowe

Caring for someone with a rare disease, especially a child or a family member, can be a difficult and emotional experience. Many people become a caregiver due to circumstance rather than by choice and lack any formal training. Even for trained professionals, caring for someone living with a rare disease can come with many unique challenges. In many cases, people living with a rare disease require around the clock care and have limited options available for treatment or specialized medical attention. This can increase the emotional and physical toll that caring for someone can impose on a caregiver.

The National Niemann-Pick Disease Foundation (NNPDF) is the leading national organization focused on support for individuals and families affected by any type of Niemann-Pick disease. In recent years, we have worked to expand our focus on meeting the needs of caregivers who support people living with all types of Niemann-Pick disease, including acid sphingomyelinase deficiency (ASMD). In an effort to identify and work to develop more and more targeted support for caregivers in this community, NNPDF recently completed the first-ever study focused specifically on caregiver burden in the ASMD community. The results highlight a critical need for support that can address both the physical and emotional burden that caregivers can experience.

ASMD, also known as Niemann-Pick disease types A, A/B, and B, is a rare, progressive and often life-threatening lysosomal storage disease that currently has no approved treatment options. The progression of disease can vary widely, with some symptoms more easily managed, while people with more progressive forms of the disease require higher levels of support including help with many routine requirements of daily life. The most severe form is rapidly progressive and fatal.

In the study, we conducted a series of one-on-one interviews with caregivers of people living with ASMD to better understand how the disease affects different aspects of their health and life. Of the participants in the study, 100 percent reported that their efforts to provide care for someone living with ASMD have a negative impact to their emotional and financial well-being. The most frequently reported emotional impacts included depression, stress, frustration and concern that the disease symptoms will continue to progress. Participants also reported that their role as a caregiver has an impact on their finances and their concern about how they will address the often significant costs of care. In many cases respondents reported needing to refinance a mortgage and apply for financial assistance. In addition, 86 percent of caregivers in the study reported that they did not receive any formal training on how to provide support and 71 percent were the sole caretaker of a person living with ASMD.

These results help to quantify many anecdotal examples indicating that ASMD caregivers need more and more targeted support and resources to help manage the emotional and financial burden of their role. At NNPDF, we currently offer a number of resources for ASMD families including a guidebook for caregivers of children with rare diseases, information on comprehensive care centers, grief counselling, an emergency hardship program and information on where to find financial and emotional support in local areas. We also host weekly virtual meetings with our family services team where parents and caretakers can share any challenges they might be having and learn about tools that can help. As we work to consider efforts to expand the support network for caregivers, NNPDF is also working to ensure that the experiences of caregivers is taken into account in industry and regulatory efforts to advance research that can lead to a treatment for ASMD.

Another factor that can affect caregivers is the lack of awareness of ASMD, which remains relatively unknown and not widely understood. The lack of information coupled with limited research and no approved treatments can further exacerbate the burden on caregivers. By continuing to raise awareness of the disease, we can help identify more resources and support services that can make a positive difference for caregivers. There is one bright spot on the horizon that could make a profound difference for caregivers. In July 2022, pharma company Sanofi expects to receive a response from the U.S. Food and Drug Administration (FDA) regarding the application for a potential treatment for ASMD. If approved, this will be the first therapy available for ASMD in the U.S. and a sign of hope for the whole Niemann-Pick disease community.

If you are an ASMD caregiver and you need support, please do not hesitate to reach out to the NNPDF family services team at [email protected]. Know that you are not alone in your struggles. We thank you for all the amazing work you do, and we will continue fighting for resources that can improve the lives of everyone impacted by this disease.

Learn more about the study.

About the author
Joslyn Crowe is the executive director the National Niemann-Pick Disease Foundation (NNPDF), the national patient organization for the Niemann-Pick community. Her work has bridged the nonprofit and pharmaceutical industry realms and includes over 15 years of experience in patient engagement with pharmaceutical companies including Pfizer, Abbott, Novartis, and other on advocacy initiatives and market access strategies.

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The Journey to Diagnosis in Rare Disease

Jill Beirl

For people living with a rare disease, the road to diagnosis can be very difficult. Many patients must live through years of tests and doctor visits before they get the answers they need. This is especially common for people living with acid sphingomyelinase deficiency (ASMD) and the other types of Niemann-Pick disease.  

Knowing the symptoms
The first steps in the path to diagnosis are knowing what to look for and understanding the symptoms.  In ASMD factors including heterogeneity (variability in symptoms and progression), small patient population and lack of awareness are major challenges. For this reason, efforts to build broader awareness of ASMD are critically important. 

Testing and treatment options
If a clinician suspects ASMD, diagnosis can be confirmed using a test to measure levels of the ASM enzyme in the blood or using genetic testing. 

Currently, there are no approved treatments for ASMD, but there may be hope on the horizon. Pharma company Sanofi recently announced results from a phase 3 clinical trial for a therapy that showed sustained improvement across multiple clinical manifestations of ASMD including lung function and reduction of spleen and liver volumes. If approved, this would become the first therapy available for the treatment of ASMD.

Get the information you need
In addition to information available from NNPDF, Sanofi also recently launched a new website called ASMDFacts.com with information for both patients and clinicians. We encourage all patients and families to use and share all the resources that are available to understand ASMD, especially as research continues to advance toward a possible treatment.   

The importance of building awareness
While the diagnostic journey for people living with rare diseases can be long, there are ways that we can help to improve this process. By spreading awareness about a disease like ASMD and sharing information with family and friends, we can help to educate patients and clinicians about what to look out for and how to better recognize the disease.

In addition, sharing resources with your local medical centers is another great way to help inform people of the disease and help other families obtain a faster diagnosis. This fact sheet is a great example of a resource to share that provides an outline of ASMD and information about where and how to get tested.

And as always, NNPDF is here to support families in any way we can. We are available to answer questions about a disease and provide resources for support if you suspect you or your family member might be living with any form of Niemann-Pick disease. Please reach out to family services at any time if you need guidance or support: [email protected]. Together, we can work to build broader awareness of this disease and help support an easier and faster diagnosis journey for all future patients.

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We are showing our colors for Rare Disease Day 2022

Jill Beirl

Each year for the past 15 years, the Niemann-Pick disease community has joined with patients, families, healthcare professionals and advocacy organizations around the world to recognize Rare Disease Day (RDD). On the last day of February, we take this special opportunity to show our support for our own community and for the over 300 million people affected by rare diseases. RDD is an opportunity to help more people learn about the impact of rare diseases and call for more research and programs that can make a positive difference. This year’s theme, “Share Your Colors”, reflects one of our core values at NNPDF – our commitment to elevating all of the voices in our community in an effort to build broader awareness of Niemann-Pick disease.

One of the most important ways to build awareness of Niemann-Pick disease is by sharing stories from our community. From the earliest symptoms to receiving a diagnosis and then living with Niemann-Pick, the experience can be extremely emotional and challenging. While it can be difficult and sometimes scary to talk about personal experiences, sharing our stories can have a profoundly positive impact. As we join together to build awareness:

  • More people will learn about Niemann-Pick disease.
  • More people who are at risk will get screened and diagnosed.
  • More reporters will report on the important issues that affect our community, including the need for research and access to treatment.
  • Legislators will understand the needs of the Niemann-Pick community.
    More attention will drive more resources to our community.
  • NNPDF will be an even more active and effective advocate supporting patients and families.

At NNPDF, we work closely with caregivers, family members and people living with Niemann-Pick disease in outreach efforts throughout the year. We are available to help you share your story and have the impact you want to have. Your actions can support education, highlight the need for more research and access to treatment, and help others to manage the physical, emotional, and financial challenges of Niemann-Pick disease.

Showing our colors also means demonstrating the amazing strength and resilience of so many members of the Niemann-Pick and broader rare disease communities. These efforts are reaching and influencing many stakeholders, including researchers and industry and government leaders. These efforts also help ensure that our community is represented in important decisions about treatment and standards of care. We are determined to ensure that you always have a seat at the table and that your story is being heard.

For those of you who have joined in the effort to raise awareness in the past, know that your efforts have made a tremendous difference. For those of you who want to join in these efforts, NNPDF will be here to guide you and support you on every step of your journey. If you are interested in learning more about the opportunities to share your story, please do not hesitate to reach out to us at [email protected]. Let’s show our true colors together.

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January – February 2022 Newsletter

Jill Beirl

Message from the Executive Director  |  Rare Disease Week  |  Rare Disease Day
Taking the Lead with ASMD – Sanofi Presentation  |  NNPDF In Action  |  Thank You Kara Ayik
Help for the Holidays Update  |  Duke-Margolis NPC Public Workshop Update
Joele Ruppert & Joseph Colton ASMD Scholarship  |  Volunteer Opportunities
NNPDF Research Fellowship Applications  |  Newborn Screening  |  AllStripes NPC Sibling Study Update
Rare Disease Advisory Councils  |  Share Your Voice!  |  Community Update Webinar with IntraBio Recording
Super Siblings Hangout with Serina!  |  2022 Family Support & Medical Conference – Visit Orlando!
In the Spotlight  |  AllStripes NPC Research Program  |  Clinical Trial Updates
Community News Updates  |  Membership  |  Emergency Hardship Program  |  NNPDF Fundraising

Message from the Executive Director

Dear NNPDF Community,

It is hard to believe that the first months of the New Year is already over, but this is a great opportunity to provide an update on our plans and goals for the rest of 2022. Once again, our focus at NNPDF will be in the areas that are most important to the Niemann-Pick community, including support services, research, and access to treatment. Our goal is to find new ways to support the critical need to bring more treatment options to the community.

We are optimistic about the recent news shared by all of our pharmaceutical industry partners about progress in their ASMD and NPC programs and we maintain our primary focus of obtaining multiple treatments approved by regulatory and available for access by all families throughout the U.S.

More than ever, we must take every step possible to get patients access to treatments that can help. In many cases, these opportunities are driven by data – and so NNPDF will continue to expand the focus on both collecting and sharing patient and clinician-reported data. This is a critical need because Niemann-Pick can progress in different ways and at different speeds. Regulators and researchers need more insights about the impact of Niemann-Pick disease to make informed decisions. Access to data will play a central role in shaping current and future efforts to develop treatments and position them for approval. To help support this initiative, we will be working closely with the International Niemann-Pick Disease Registry (INDPR) – a patient owned registry designed to collect and share both patient and clinician data. We have also developed a patient reported outcomes survey that will help provide more data to better understand the impact of ASMD and will yield important information for use with regulatory agencies including the U.S. FDA.  

As we work to emphasize the importance of patient data, we hope that you will join us in our efforts to collect individual experiences. Your input can provide new insights and help to confirm details about the impact of Niemann-Pick that can help to advance research in the months and years ahead. Throughout the year we will be conducting surveys and working with industry and regulatory leaders through webinars and other events to ensure that the patient experience is taken into consideration in all areas where it is essential to help guide decisions about research and treatments. If you are interested in sharing your experience or getting more involved in these efforts, please reach out to us at [email protected].

While we expand our focus in this area, we will also continue to look for new ways to support Niemann-Pick families with services and information. We encourage you to take advantage of any NNPDF resources and also help us to reach more people who need them. We also welcome your ideas for any new issues we can address or any additional services that can help make your journey easier. I would like to thank you for your continued dedication to making a positive difference for people living with Niemann-Pick disease. I am confident that we will accomplish many great things this year as we all work together. As always, please do not hesitate to reach out if you have any questions about our work at NNPDF and the many ways that you can join in these efforts.    

Best wishes,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

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Rare Disease Week on Capitol Hill

Virtual Rare Disease Week on Capitol Hill events will be held February 22nd through March 2nd.

Registration is open for Virtual Rare Disease Week on Capitol Hill and will include the same opportunities as in-person Rare Disease Week, plus more! Rare Disease Week on Capitol Hill brings together rare disease community members from across the country to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators.

Visit everylifefoundation.org for complete details on:

information and registration
Now more than ever, it’s important for Niemann-Pick families to communicate our priorities and concerns to decision-makers and leaders!

#EveryVoiceMatters #NiemannPick #ASMD #NPC
Supporting One Another. Supporting Our Community.

Rare Disease Day - February 28th

Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. It promotes raising awareness and generating change for the 300 million people worldwide living with a rare disease such as Niemann-Pick, their families and carers, and what it means to be rare.

Anyone can get involved in Rare Disease Day awareness. Participants can find helpful resources, activities and events to get involved at rarediseaseday.org. This global event was founded by EURORDIS and is sponsored by the National Organization for Rare Diseases (NORD).

Participation is easy!

  • Download and use the I Support Rare Disease badge as your profile on your social pages. (Please Note: Customized profile frames are no longer offered by Facebook.)
  • Share your NNPDF community members’ “rare” stories and videos from NNPDF’s (public) social pages. Find us on Facebook, Instagram and Twitter.
  • Share the global Rare Disease Day infographics from NNPDF’s social pages.
  • Register to attend virtual Rare Disease Week on Capitol Hill.
  • Participate in the Scavenger Hunt during virtual Rare Disease Week on Capitol Hill for a chance to win a grant for National Niemann-Pick Disease Foundation which will provide continued awareness and support for the Niemann-Pick community.
  • Share Your Story for a chance to win a donation to NNPDF. Your rare disease stories are pathways to treatments and cures! 

Taking the Lead with ASMD: Navigating the Healthcare System Presentation

Please join Sanofi Genzyme for their educational presentation Taking the Lead with ASMD: Navigating the Healthcare System taking place on Tuesday and Thursday February 22 and 24th. This virtual educational presentation will focus on tips for identifying your healthcare team, preparing for medical appointments, staying on top of your management plan, and more.

Tuesday, February 22nd registration: surl.sanofi.com/asmd222
Thursday, February 24th registration: surl.sanofi.com/asmd224

NNPDF In Action

Joslyn Crowe, Executive Director and Justin Hopkin, Board Chair attended WORLDSymposium 2022 last week where they heard the latest updates on research in lysosomal storage diseases. They presented a poster co-authored by NNPDF on “A qualitative study to understand caregivers’ burden of acid sphingomyelinase deficiency” and were able to connect with several colleagues in the rare disease space.

VIEW POSTER:  A qualitative study to understand caregivers’ burden of acid sphingomyelinase deficiency

Dr. Marc Patterson presenting a poster on NPC
Dr. Marc Patterson presenting a poster on NPC
NNPDF with Sanofi’s leadership team following announcement of positive results in olipudase alfa data
NNPDF with Sanofi’s leadership team following announcement of positive results in olipudase alfa data
Dr. Justin Hopkin and Dr. George Diaz, co-authors of an upcoming publication on NNPDF’s Challenges of Access in Niemann-Pick Disease study
Dr. Justin Hopkin and Dr. George Diaz, co-authors of an upcoming publication on NNPDF’s Challenges of Access in Niemann-Pick Disease study
Skylar Jackson, Engage Health, and Joslyn Crowe
Skylar Jackson, Engage Health, and Joslyn Crowe

NNPDF Board Member Update

A heartfelt THANK YOU to Kara Ayik for serving as an NNPDF Board Member. Your dedication, service, and commitment to the National Niemann-Pick Disease Foundation and the families it supports has been extraordinary.

Help for the Holidays

Sixteen NNPDF Community member families had help in making their holidays a little brighter thanks to an anonymous special donor. Our donor family wished to help ease the burden of Holiday stress, knowing that living with NPD can be difficult.  NNPDF was able to assist with over 150 items for families.

THANK YOU to our donor family – “… you all made us very happy with your act of love.”

  

Duke-Margolis NPC Public Workshop Update

A public workshop was recently held by Duke-Margolis Center for Health Policy, sponsored by the FDA. This virtual public workshop allowed participants the opportunity to discuss clinical endpoints relevant to NPC clinical trials and innovative strategies to support therapeutic development for patients with NPC.

Several of our Niemann-Pick community members were able to share their stories during this event. As a community, we thank them for advocating on behalf of the entire NPC community to ensure that our families and expert clinicians voices are heard and incorporated into decision making and outcomes.

Read Family Statements

You may continue to submit comments for this workshop to Docket FDA-2021-N-1297 until April 25, 2022.

Joele Ruppert & Joseph Colton ASMD Scholarship

Joele Ruppert and Joseph Colton are a much-loved daughter and son, both diagnosed with ASMD. This scholarship has been created in honor of the lives of these two cherished children and their parents who embodied the highest values of the human spirit. Read complete story and learn more about this scholarship opportunity.

APPLICATION DEADLINE IS MAY 15, 2022.

Volunteer Opportunities

Sign up to volunteer and help make a difference in our community!

Volunteers are essential to our Niemann-Pick community to support awareness and keeping our family support organization moving forward. We are currently collecting resumes and letters of interest from those interested in volunteering their skills and time to assist in the following positions with the NNPDF organization: 

  • Board Members
  • Committee Teams 
  • Focus Groups

If you are interested in becoming a NNPDF volunteer, please send letter of interest by MARCH 15th to [email protected] and we will follow up with you with the process for applying. Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do. 

Supporting One Another. Supporting Our Community.

NNPDF Research Fellowship Applications

NNPDF is now accepting Research Fellowship Applications. The Peter G. Penchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick Disease.

Niemann-Pick Disease research is one of the pillars of our mission and we are proud that since 1993, NNPDF has funded 52 grants and 20 fellowships totaling over $4,000,000. Our fellowships and grants have contributed to the identification of disease-causing genes, insights into the pathogenesis of NPC1 & NPC2, support of the NPC cat model at a critical juncture, and development of an assay for newborn screening. Many former grantees and fellows have remained active contributors in the Niemann-Pick Disease space.

Contact [email protected] with questions.

Application Deadline is June 1, 2022

Peter G. Penchev NPC Research Fellowship Application
Edward H. Schuchman ASMD Research Fellowship Application

Newborn Screening

Firefly Convenes 3rd Annual Newborn Screening Clinical Roundtable

More than 30 clinicians and researchers participated in Firefly’s 3rd Annual Newborn Screening Roundtable chaired by Drs. Elizabeth Berry-Kravis and Marc Patterson. Held at the end of 2021, the work to get expert alignment on key issues such as timing for treatment initiation; measuring disease progression, and the role and value of natural history data took on additional significance.

A few key Take-Aways:

  • An in-meeting survey found unanimous agreement that developmental delay, specifically developmental slowing or stagnation which occurs before regression, is an important manifestation of disease onset, in early onset NPC
  • Experts agreed on the need to publish an update to NPC guidelines focused on disease modifying tools and the value of early intervention authored by physicians, scientists, and patient groups
  • NPC NBS research is underway: Pilot NBS study in New York and a study comparing outcomes for siblings diagnosed at different stages of disease progression and intervention

AllStripes NPC Sibling Study Update

We are excited to share AllStripes’ blogposts featuring Niemann-Pick family stories from Liz Heinze and Cindy Parseghian. 

AllStripes NPC Sibling Study is a research database that will power multiple NPC research studies. The first study will explore early diagnosis and intervention. We hope to use the data to advocate for adding NPC to newborn screening programs. 

Read Lifting up Legacy Families by Liz Heinze and I learned I Couldn’t Do This Alone by Cindy Parseghian. Thank you both for sharing your powerful and moving stories to reach our Niemann-Pick community and beyond.

Rare Disease Advisory Councils

NNPDF continues to support Rare Disease Advisory Councils (RDACs) across the country. RDACs give rare disease community members a unified voice in state government and provide a valuable resource to elected officials on rare disease education and challenges. Currently, only 21 states have RDACs. NNPDF has recently signed on to RDAC in the state of Mississippi. Read the letter and learn more about this issue.

Share Your Voice! A message from Cyclo Therapeutics…

Perspectives from the Niemann-Pick disease community play a central role in every area of our work. We are working to enroll NPC patients in our Phase 3 Program called TransportNPC™, which is currently the most advanced clinical research program in NPC in the world.

To help support and guide our work in the months and years ahead, Cyclo is establishing a new NPC Patient and Caregiver Advisory Board that will help to bring our team a broad range of perspectives and opinions that will support our work, while making sure that our work is aligned with the most urgent needs of the community. Patients and caregivers who join our board will have the opportunity to join in a two-way interaction that is designed to advance understanding of the burden of NPC, the needs of the community and the best ways to advance research.  Through these discussions, Cyclo will collect feedback and use this guidance to plan for our continuing efforts to develop a treatment for NPC.

The Board will be comprised of 6-8 NPC disease advocates based in the United States. These members will be invited to work with many different members of the Cyclo team to build a better understanding of our mutual goals and the best ways to advance research moving forward. If you are interested, please reach out to [email protected].

Community Update Webinar with IntraBio - Recording

The recording for the Community Update Webinar Series with IntraBio is now available. Thank you to Taylor Fields, Chief Product Development Officer and Tatiana Bremova-Ertl, MD, PhD, Department of Neurology, University Hospital Bern for sharing this important update on N-acetyl-leucine (IB1000s) for the treatment of NPC. View the recording.

Super Siblings Hangout with Serina!

A special event was recently held for our younger SUPER SIBLINGS to come together and virtually chat with Serina Heinze. The virtual chat allowed our ASMD and NPC unaffected siblings to have some time together to ask questions to Serina and share with one another, in hope of encouraging important relationships amongst our younger siblings. Thank you Serina for your continued commitment to support our younger siblings.

If your family’s super sibling (ages 6 to 12) has any questions for Serina, or to contact her at any time, email [email protected].

Family Support & Medical Conference - Visit Orlando!

Join us in Orlando from July 28-31, 2022 at the Wyndham Grand as we come together for our 30th Annual NNPDF Family Support & Medical Conference! This year we will gather in conjunction with families and delegates from the International Niemann-Pick Disease Alliance (INPDA).

Start planning your stay by checking out some great conference attendee offers from Visit Orlando! Watch for conference registration, hotel reservation info, and health and safety guidelines coming soon!

Lindsay Horsman

Mom of Caleb – NPC

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
My name is Lindsay and I have two amazing kids, Aubrey and Caleb. We live in a small town in Calvert County, which is south of Annapolis, Maryland and Washington, D.C.  Caleb is a courageous 8 year old who is always ready for his next adventure. He is in the 3rd grade at the same school where I teach first grade. We have 2 mini-dachshund puppies, named Olive and Evie, who always keep us entertained. Caleb loves to be out on the water, tubing, crabbing, and swimming. He loves trying all different kinds of sports, his favorite at the moment is golf. Caleb loves being outside, playing with Aubrey, and is always willing to curl up to snuggle with someone.

 

When did you receive Caleb’s diagnosis and what to led to this?
Caleb was born March 4, 2013. He had jaundice at birth which was not alarming in itself at the time because many babies have jaundice when they are born. At Caleb’s two month wellness appointment, his pediatrician noticed he still had signs of jaundice and a distended belly. This led us to five long months of visits to different specialists and all kinds o

f testing and labs with no definitive answers. On October 15, 2013, Caleb was diagnosed with Niemann-Pick Type C disease. We were in shock and were told nothing to prepare us for this fatal diagnosis.

Within two weeks, we were in contact with NIH and had our first visit scheduled to be a part of their natural history study. We knew very little about treatment options but knew we had to do something to help Caleb fight this disease. In 2019, Caleb started Adrabetadex at RUSH University Medical Center. We traveled back and forth to Chicago from Maryland for a year. Thankfully Children’s National Hospital in Washington DC started allowing Caleb to receive treatments right before the pandemic. It was nice to be closer to home both for Caleb’s well-being and the family.

How did you learn about NNPDF?
Caleb’s diagnosis was an emotional roller coaster. I remember going to work the next day and getting upset because I felt like everything in my life was in question and people around me could never understand this feeling. I had a child with a fatal diagnosis and there was nothing I could do to help him. It was the most helpless feeling. It took me awhile to come to terms with his diagnosis. I was afraid to start researching because I was afraid of what I would find out. One of the first resources I came across was the NNPDF website. I realized that it wasn’t all just sad, scary stories. The NNPDF website brought relief to see that we weren’t alone in this frightening experience and there was help out there. It was encouraging to see all the support this community provided to each other and as frightening as it was to learn more and more about NPC I knew knowledge was crucial and I had to learn as much as could in order to help Caleb in this battle.

How has being an NNPDF member supported your family?
NNPDF has an amazing network of families, doctors, advocates, and patients. Being a member has helped connect our family to this amazing support system and helped us walk through this journey. Early on we knew we wanted to do our part to help raise funds for research and to spread awareness of NPC. Since our family lives by the bay and enjoys a good crab feast we reached out to a local restaurant to host Crabcakes for Caleb. We’ve had several years of successful years raising funds with the support of our friends and family. We appreciate all that NNPDF has done to contribute to our fundraising success. NNPDF helped guide me through the fundraising process and supported our family every step of the way.

What advice would you share with newly diagnosed families?
You are not alone. Reach out for support. There are so many amazing families that have experienced the despair and pain that you are going through with either a long, stressful diagnosis, understanding this complex disease, and/or deciding on treatment options and what’s best for your child. Everyone’s situation is different and unique, and you must do what is best for your family. You are your child’s best advocate.

      

AllStripes NPC Research Program

NNPDF is excited to partner with the Firefly Fund, Niemann-Pick Canada, the Ara Parseghian Medical Research Fund and AllStripes to create a research database that will power multiple NPC research studies. The first study will explore early diagnosis and intervention. We hope to use the data to advocate for adding NPC to newborn screening programs. To move this research forward, we are looking for families of 40 sibling pairs with NPC willing to contribute their de-identified medical records.
Learn how you can help.

Clinical Trial Updates

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

Update from Cyclo Therapeutics: 
Cyclo Therapeutics announces the formation of a Global Steering Committee comprised of leading experts to advise on the global Phase 3 clinical development program for Trappsol® Cyclo™ in Niemann-Pick Disease Type C. Read complete update.

Update from Orphazyme:
Orphazyme has provided an update for the planned NDA resubmission for arimoclomol for the treatment of Niemann-Pick disease type C in the United States. Read the complete update.

Updates from Sanofi:
Sanofi has shared an important update on olipudase alfa: Olipudase alfa shown to provide sustained improvement across multiple clinical manifestations of ASMD. Read the press release.

Sanofi shared their Q1 Earnings Report which includes an important update on the Olipudase Alfa program. Read complete report.

Community News Updates


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

Update from Orphazyme:
Orphazyme has shared the following update has been shared with the NNPDF. Read complete update.

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.

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 Niki Matchen, Pat Danielson, Carolyn Sowards, Donna Butts Price, Athan Eric Master,  Franchesca Polo, and Keith Travels who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!

Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!

       

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In the Spotlight with Ashley Lewis

Jill Beirl

DECEMBER 2021

Ashley Lewis

Mom of Linwood, ASMD

Tell us a bit about yourself and your family…
We are the Lewis’s!! We live in beautiful North Carolina, in the town where my husband, Lyn grew up. Tarboro is a small town like you see in the movies, where everyone knows everyone. We love spending time with our family and friends. Family is everything! Linwood is a busy five-year-old. He is in Pre-K and loves it. During the summer Linwood takes swim class, music class and has participated in therapeutic horseback riding. He loves being around his friends, and his cousin Hadley. When we are home Linwood enjoys watching movies with his dog, Major, and his kitten, Kitty Boop. Linwood also enjoys listening to music, especially Allan Jackson and Rudolph the Red Nose Reindeer. Linwood is our only child and is surrounded by so much love, he is the first boy on my side of the family in two generations!

What led to and when did you receive the Niemann-Pick disease diagnosis?
At thirteen months old, in 2017,  Linwood went in for routine surgery, and the anesthesiologist discovered that his liver was enlarged. From there, Linwood was admitted to our local hospital, where he had multiple tests and labs done. From Leukemia to Lymphoma, and then to metabolic diseases, we were faced with many scary possibilities. As the test results came back, and the test being performed became more specific, we began to realize that Linwood had something very rare. The last test he had done was a liver biopsy. We were sent home after this test and were told we would be called with the results. At this point, the diagnosis was a metabolic disease, but it was between a glycogen storage disease and a lipid storage disease. We were told by the doctors that we did not want it to be a lipid storage disease. Linwood received his official diagnosis at fifteen months old, and it was Niemann-Pick type B.

What were the first steps you took after diagnosis?
We received Linwood’s diagnosis by his Pediatric Ophthalmologist during an eye exam. We had previously met with his genetic specialist, Dr. Spence at UNC, and the results of the liver biopsy had not come back yet. When we met with the pediatric ophthalmologist, she noticed the “cherry-red spot” at the back of Linwood’s eyes, which is an indicator of ASMD. So we asked the doctor if that meant Linwood had Niemann-Pick. She checked Linwood’s medical chart, and the results of the Liver biopsy were there, and it confirmed that he did have Niemann-Pick. After his diagnosis, we were informed by Linwood’s genetic specialist, Dr. Spence, that there was a clinical trial in New York and we were instructed to call because Linwood might qualify. We did what he said, and two weeks later we were making travel plans to fly to New York, for the screening process for the trial. After the screening process in February of 2018, we began in the trial two months later, when Linwood was eighteen months old.

How did you learn about NNPDF?
It was not until almost a year after Linwood’s diagnosis that my Stepmom actually invited me to join the NNPDF Facebook page. Up until this point, I honestly was afraid to join any support group or Facebook page, only because I was so afraid I would see something sad or scary. Our world had been turned upside down and we were still adjusting to our new normal. Our emotions were all over the place, and I knew if I saw something sad, that I wouldn’t be able to be strong for my child. Little did I know, NNPDF was exactly what we needed. It has been a blessing.

What caused you to get involved with NNPDF initially and how has being an NNPDF member benefitted your family?
After being a member for a while, Laurie Turner reached out to me. She asked if I would be interested in participating in a few projects with the NNPDF. After seeing so many brave families share their stories, and being able to lean on their comforting words, I was so honored to share Linwood’s story.

What impact has Neimann-Pick disease had on your life?
Niemann-Pick Type B/ASMD, has changed our lives. It has honestly opened our eyes to a world that we never knew existed. Prior to Linwood’s diagnosis, we had never heard of it. Even though there have been moments of uncertainty, fear, sadness, and a lot of worries, it has made us appreciate every single day, every single milestone, and every single thing that Linwood brings to our lives. I can honestly say it has made our lives more beautiful because we truly now understand how beautiful life is. I always knew that life was precious, but it wasn’t until we were faced with the unknown that we really understood.

What are your hopes for the future for yourself and for the Niemann-Pick community?
I pray that more research continues for those with Niemann-Pick, and I pray that with that comes more treatment options. I hope that those who are new to the NNPDF community, know that they are not alone, and even though they have their very own journey, they are not alone. I hope that awareness continues and that people get inspired to become involved. This is a wonderful community! Hopes for myself and my family, are that we continue to share our story, and hopefully are able to help others with doing so.

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Message from the Executive Director

Jill Beirl

DECEMBER 2021

 

Dear NNPDF Community,

As we approach the end of 2021, this is a perfect time to reflect on the progress we have made this year in the Niemann-Pick community and to outline some important goals for 2022. Over the past several months, the National Niemann-Pick Disease Foundation has been working in many ways to advocate on behalf of families and to raise broader awareness of the critical need for access to treatment for Niemann-Pick patients. We have partnered with industry leaders and other advocacy groups to highlight many important issues related to Niemann-Pick, including the importance of sharing data and understanding the patient journey. We have also helped community members to advocate on behalf of their loved ones in the media and on social media, helping thousands of people to better understand the impact of Niemann-Pick disease.

Recently, NNPDF Board Chair Dr. Justin Hopkin and I authored an article that was published in Nature Magazine’s Scientific Reports on the impact and burden of acid sphingomyelinase deficiency (ASMD) from a patient and caregiver perspective. This article provides many important insights that we gathered in meetings with patients and families who talked about their experience living with ASMD. We hope that the efforts by these patients will help others better understand ASMD and join in the effort to support patients and families. The data collected can also play an important role in helping researchers advance their work and supporting faster diagnosis and better treatment.

NNPDF has also been working with AllStripes, a leading patient advocacy organization, to complete the NPC Sibling Study, a landmark effort to better understand the impact of early diagnosis on families affected by NPC. New insights from this study can play an important role in supporting the need for newborn screening for NPC. We also completed another important study that focuses on insurance literacy in the Niemann-Pick community in an effort to better understand the financial burden that families face and how we can address them.

Heading into 2022, we will be looking at many new ways to expand our efforts to address critical needs for our community. We will continue to fight for broader access to data from clinical research that can be used to support future research efforts. We will also look to develop new and more effective opportunities to partner with industry leaders to find paths forward for research that can lead to new treatments. And we will work aggressively to help regulators better understand the impact of Niemann-Pick disease and how they can consider innovative and essential new approaches in their review and approval procedures for new drugs to get them to the approval finish line.

As I look forward to the New Year, I am so encouraged by bravery and resilience of the many families that work with us. I believe our community is stronger than ever. Throughout 2021, we had some signs of progress, and we faced some setbacks when promising clinical development programs and trials were either cancelled or failed to win FDA approval. In response, we saw our community join together to fight even harder to address the issues that are important to us. I am inspired by so many examples of bravery and determination. Dale Carnegie once said, “Most of the important things in the world have been accomplished by people who have kept trying when there seemed to be no hope at all.”  Our community is continuing to fight for our families despite our challenges. We are closer than ever to having approved treatments in Niemann-Pick disease. And together we will make a positive difference.

I would like to thank all the members of the Niemann-Pick community and the many partners who work with us for your amazing strength, dedication, and support over this past year. All of us at NNPDF are honored to continue advocating for this community. Supporting patients and families is our mission – we are proud to deliver these services and more to the Niemann-Pick community in 2022 and beyond.

Sending you warm wishes for the holiday season.

With gratitude,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

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