Message from NNPDF on arimoclomol

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Dear NPC Community Members,

This week, Orphazyme announced that they have reached an agreement with US-based pharma company KemPharm to acquire arimoclomol, the investigational drug candidate that Orphazyme had in development for the treatment of Niemann-Pick disease type C (NPC), which is schedule to officially to occur on June 1, 2022. Under the terms of the agreement, arimoclomol will continue to be available to patients through existing early access programs. KemPharm also intends to continue to pursue the approval of arimoclomol with both the U.S. Food and Drug Administration (FDA) and European Medicines Agency (EMA).

We are also pleased to learn that KemPharm intends to retain the majority of Orphazyme’s remaining employees, who have learned a lot about the community through our partnership over the past several years.

We look forward to this next phase in our partnership and learning more about KemPharm and their plans to continue the development program for arimoclomol. The company has previously focused on development of novel treatments for rare central nervous system (CNS) diseases and has experience bringing other treatments to market through regulatory approval. The company also has previous experience with FDA approvals following an initial CRL (complete response letter).

As many are aware, the NPC community has faced a long road in the effort to make an approved treatment available to patients in the U.S. The decision by KemPharm to advance the development program for arimoclomol highlights the continued urgent need for us to work with industry, regulators and other stakeholders to continue this essential work. Though we still have a long way to go, we are encouraged by this news and look forward to working with the KemPharm team in the months ahead.

NNPDF leadership is meeting with KemPharm in the next few days and they have been invited to share an update at our upcoming 30th Anniversary Family Support & Medical conference.

For further details about the acquisition, see the press releases below:
Orphazyme press release
KemPharm press release

Sincerely,


Joslyn Crowe, MSW, MA
NNPDF Executive Director

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Adult Onset Niemann-Pick type C (NPC)

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Symptoms of Niemann-Pick disease type C (NPC) can vary widely. In many cases symptoms first appear early in life. However, for a subset of patients who have adolescent/adult-onset NPC, symptoms might not appear until much later. In efforts to help patients and caregivers manage NPC and access the support they need; it is important to understand some key issues related to adult-onset NPC. 

Symptoms
In infancy and childhood, NPC most often presents through physical symptoms such as yellowing of the skin or enlarged liver or spleen. In adult-onset NPC, however, many patients first experience neurological symptoms. These symptoms can lead to difficulties with coordination such as walking, eating, and talking and difficulties looking in a vertical direction. In many cases, people living with adult-onset NPC are first considered to have a mental health condition such as schizophrenia or manic-depressive or bipolar disorders. The differences in symptoms between children and adults can make adult-onset NPC very difficult to diagnose; many patients seek medical care for years before receiving an accurate diagnosis. By raising greater awareness of the symptoms of adult-onset NPC, we can help more patients and families to access the appropriate care they need as quickly as possible.

Support
While living with a rare disease can be difficult for anyone, people and families of adults living with NPC can face severe challenges that affect their emotional and mental well-being. Before symptoms appear, many people living with adult-onset NPC appear relatively healthy and are able to take part in daily activities including exercise, socializing, working and caring for their families. The onset of symptoms, however, can mean that patients decline and lose the ability to work and care for themselves or their families. Symptoms can also lead to emotional challenges and feelings of confusion and frustration. In developing a care program, it is often essential to help patients take steps to manage both their physical and emotional symptoms.

In providing support, it can often be helpful for patients and caregivers to hear from other individuals and families affected by adult-onset NPC. NNPDF board member Cara Gilmore was diagnosed with adult-onset NPC in September of 2019 and is involved in many different efforts to help patients connect to share information. She has participated in media interviews and works with physicians and advocacy groups across the country to help raise awareness. To learn more about her story or to connect with Cara, please visit the resources below.  

NNPDF Resources
NNPDF is dedicated to supporting all people who are living with NPC. We are committed to building broader awareness of adult-onset NPC in both the medical community and among the public. By doing so, we can help more people obtain an accurate diagnosis sooner and then help them get the treatment and support they need. If you or someone you know has started experiencing symptoms, we have a range of resources that can help, including information to help you find a doctor as well as options for financial support. If you have been recently diagnosed with adult-onset NPC, there are also many wonderful individuals and families who work with NNPDF to share advice and support as you navigate this journey.

Our annual Family and Medical Conference is a perfect opportunity to meet with other patients and families who understand the challenges of living with adult-onset NPC and who can share helpful information or just be there to listen. For more information on our conference, please visit this link. At NNPDF we are also continuously working to support research that can lead to new treatment options for people impacted by NPC at any age and we are continually working to expand the resources and services we have to help. For information visit our website or contact us directly at [email protected]. We are here to help.

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In the Spotlight with JP De Douza

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MARCH 2022

João Paulo De Souza

Sr. Program Manager, AllStripes

Tell us a bit about yourself, such as where do you live and what do you enjoy doing?
My name is João Paulo – I know, it’s a bit of a tongue twister, but most people call me JP. I’m a Bay Area native who returned after living in San Luis Obispo, California. From an early age, I knew I wanted to help people. After graduating from the University of California, Berkeley, most of my work has been in a variety of clinical and biotech settings: from creating treatment plans for children with varying developmental disorders to using AI for blood diagnostics.

These days, I’m a Sr. Program Manager at AllStripes, where our mission is to unlock new treatments for people affected by rare disease. I’m fortunate to work alongside many dedicated and talented individuals working toward the same mission, and seeing amazing work being done for communities like NPC. During my free time, I take advantage of the many hikes and parks the Bay Area has to offer with my best friend Samson, my 4-year-old Goldendoodle. I love to experience different cultures through travel, and of course, using my taste buds.

What caused you to get involved in the Niemann-Pick community?
The NPC Sibling Study was one of the first projects I started helping with when I joined the team here at AllStripes. Since then, I’ve had the privilege of working closely with NNPDF, Firefly Fund, Niemann-Pick Canada, and the Ara Parseghian Medical Research Fund. Our work has allowed me to connect with members of the community and hear such unique and powerful stories, which continue to drive me each and every day.

How does the NPC Sibling Study support early NPC intervention?
The intent of the Sibling Study is to provide evidence to support the inclusion of NPC in newborn screening (NBS) programs. Achieving this will allow physicians to diagnose babies with NPC early, which will allow for early intervention. Early intervention may increase the effectiveness of treatments and improve quality of life. Getting NPC added to newborn screening panels would be a huge accomplishment and success for the community!

Why are sibling pairs needed for this research?
In short, the Sibling Study is attempting to show the effects of early intervention. How will this research project do this? When two siblings have the same diagnosis and one sibling had intervention earlier than the other, researchers can determine whether intervening early leads to slower symptom onset and/or decreased severity of symptoms.

Why is data from families whose loved ones have passed important to the study?
While there’s currently no cure for NPC, there have been advancements in treating it. Some of these advancements are recent enough that, in some cases, people who have died from NPC did not have the chance to be treated with disease-specific therapies. Comparing medical records from deceased patients to medical records from living patients can help provide evidence that early diagnosis and intervention makes a real difference. This means the records of loved ones who have passed away from NPC are especially helpful for researchers trying to build evidence for adding NPC to newborn screening.

What are your hopes for the future of the Niemann-Pick community?
My hope is that our work with the NPC community can support the addition of NPC to newborn screening panels. Beyond that, our goal is to unlock new treatments for the NPC community. There are many like me who are working toward this goal, and the Sibling Study is just the first study we hope to work on for the NPC community.

How can families get involved?
To join other patients and families on AllStripes go to allstripes.com/npc.

If anyone has any questions about the study of AllStripes, please feel free to email [email protected].

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Message from the Board Chair

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This has been a historical week for the ASMD community. On March 28, Sanofi announced that olipudase alfa was approved in Japan for the treatment of pediatric and adult patients with ASMD! This is the first and only approved therapy for ASMD patients in the world! It took a village to help us reach this amazing milestone!

Key contributors include Dr. Edward Schuchman who identified the gene encoding, the enzyme involved in ASMD. He also developed the mouse model for ASMD and the first genetic screening test for ASMD. In addition, he pioneered enzyme replacement therapy for ASMD and collaborated with Sanofi to help bring olipudase to clinical trials. Thank you, Dr. Schuchman!

Our deepest appreciation for all the clinicians, genetic counselors, nurses and professionals that carried out the olipudase alfa trials. The clinical leaders at trial sites around the world included Simon Jones, Maurizio Scarpa, Karl Mengal, Robert Giugliani, Nathalie Guffon, Antonio Barbato and Isabele Batsu. Here in the U.S., we are especially grateful for Drs. Renata Gallagher, George Diaz, and Melissa Wasserstein, along with their amazing clinical teams, for their tireless efforts in not only leading these clinical trials but for providing great care for all our patients. We are so appreciative for your time, your effort, your passion and your leadership.

We would also like to thank all the patients and families who participated in the olipudase clinical trials. In the beginning, it was the original 5 adults who have now all continued to be part of the clinical trial for almost a decade! They have donated hours, days, weeks and years to the community. Through their efforts, we understand the persistent benefit of olidpudase can be seen years after starting therapy. Our appreciation to the pediatric patients and families who have also been involved in the clinical trial for up to 7 years. Lastly, a heartfelt thanks to all the adults who enrolled in the ASCEND trial, a year long trial that required travel to an approved site every two weeks for a year with a 50/50 chance of receiving placebo during the study period. In an ultra rare disease with a limited number of patients, each trial participant’s data, including the placebo data, is critical in demonstrating the benefit of this therapy. Thanks to all!!!

We appreciate Sanofi’s work in the rare disease space and commitment to providing the first approved therapy for all Nieman-Pick patients. We understand that an approval in Japan does not translate to approvals elsewhere. However, it is a tremendous first step in our goal of allowing all patients with ASMD to have the opportunity to receive an approved therapy. NNPDF will continue to advocate for approval in the U.S. and around the world. Thank you all for supporting the advocacy work we do and supporting the NNPDF. Let’s work together to push this approval across the finish line in the coming months.

Read the complete press release.

With Warm Regards,


Justin Hopkin, MD
NNPDF Board Chair

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Remaining Hopeful About NPC Research

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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

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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

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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

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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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In the Spotlight with Ashley Lewis

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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

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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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