Advocacy is central to our core values and our mission. We believe it is important to be a champion for the community and to be a driving force of positive change. NNPDF advocates on issues related to and impacting the Niemann-Pick community at the federal, state, and regional levels.
The NNPDF will keep you up-to-date on events related to Niemann-Nick Disease via email and social media as they develop.
- FDA Listening Session
- ICER – Institute for Clinical and Economic Review
- National Organization for Rare Disorders (NORD)
- Newborn Screening
- Wisconsin Rare Disease Advisory Council: Co-Sponsorship of LRB-5036/1
FDA Listening Session
FDA Listening Session on Niemann-Pick Disease – April 9, 2021
NNPDF hosted an FDA listening session on Niemann-Pick Disease on Friday, April 9th, 2021. The listening session was a platform for the NNPDF to present to the FDA/CDER and to share the concerns and priorities from the entire Niemann-Pick Disease community.
The Listening Session Summary Report was submitted to the FDA along with several patient voice statements and the arimoclomol support letter which was signed by 500+ Niemann-Pick community members! Thank you for supporting your Niemann-Pick community! Review the NNPDF FDA Listening Session Summary Report.
Institute for Clinical and Economic Review (ICER)
NNPDF recently supported a coalition letter, led by the Haystack Project, in response to the Institute for Clinical and Economic Review’s (ICER) national call for suggestions on how to improve its value assessment framework.
Haystack Project is a non-profit organization enabling rare and ultra-rare disease patient advocacy organizations to coordinate and focus efforts that highlight and address systemic reimbursement obstacles to patient access.
National Organization for Rare Disorders (NORD)
NNPDF recently supported a letter as representatives of the 30 million Americans living with rare diseases. Our organizations wrote to urge the U.S Senate committee on the Judiciary to take steps to protect the lives of individuals with rare diseases and their caregivers who come to the United States to participate in clinical trials or receive life-saving care. The Department of Homeland Security’s United States Citizenship and Immigration Services (USCIS) recently announced a policy shift that left these individuals facing deportation.
What is newborn screening?¹
Newborn screening is the practice of testing all babies in their first days of life for certain disorders and conditions that can hinder their normal development, affecting a child’s long-term health or survival. Each year, millions of babies in the U.S. are routinely screened for certain genetic, endocrine, and metabolic disorders. All newborn babies are required by the State to get tested typically before they leave the hospital. They are also tested for hearing loss and critical congenital heart defects (CCHDs) prior to discharge. To do the test, a nurse will take a few drops of blood from the newborn’s heel.
Why is newborn screening important?²
Each year, 4.1 million newborns are screened for congenital disorders in the United States. Of these, 4,000 infants are diagnosed as having a condition. It is estimated another 1,000 infants that have conditions go undetected. The conditions included in newborn screening can cause serious health problems starting in infancy or childhood. Early detection, diagnosis, and intervention can help prevent intellectual and physical disabilities, and life-threatening illnesses, enabling children to reach their full potential.
Why is newborn screening important to the rare disease community?³
Of the 7000 rare diseases, only 35 are included in the Recommended Universal Screening Panel (RUSP). Unfortunately, screening programs vary widely by state. While some states screen for fewer than 30 diseases, others screen for over 60. Although states ultimately determine what disorders their public health departments program will screen for, the RUSP establishes a recommended standardized list of disorders that every baby should be screened for. Serious problems can be prevented if disorders are detected right away. By knowing more about these very rare disorders and the advantages of early detection, the primary care physician can work with the child and family to develop a comprehensive plan of care.
How to locate a genetics professional?
To find a genetics professional in your community, check with your doctor for a referral. You can also contact your insurance company to find a medical geneticist or genetic counselor in your area who participates in your plan. For further information visit the NIH webpage on finding a genetics professional.
Newborn Screening Latest Updates
ScreenPlus Enrolls First Neonate into Newborn Screening Study
Today, for the very first time ever, a newborn will be screened for Niemann-Pick Type C. ScreenPlus, a newborn screening pilot study taking place in New York state, enrolled its first neonate today. The historic study includes NPC and ASMD, among about a dozen other rare disorders on its screening panel. NNPDF is a proud member of the Firefly Fund’s newborn screening working group. Click here to read complete announcement.
Newborn Screening Update
The Newborn Screening Working Group will hold its first virtual meeting in 2021 on Friday May 14th at 4pm ET. If you are interested in learning more about the efforts of the Newborn Screening working group and the progress that is being made towards realizing the goal of having NPC added to the RUSP (Recommended Uniform Screening Panel), or if you would like to join this important advocacy and research project, please contact Pam Andrews at Firefly Fund (email@example.com) to be added to the distribution list for future communications.
Newborn Screening Update
We are getting closer to the day when the first baby will be enrolled into the ScreenPlus newborn screening pilot program in New York. The entire Niemann-Pick disease community eagerly awaits what we will learn about the possibilities of better outcomes for NPC and ASMD when we can diagnose at birth. This novel pilot study is being led by Dr. Melissa Wasserstein of Montefiore Hospital and will begin in April, 2021.
Earlier this year, the Austin American-Statesman published a feature article about Firefly Fund’s work in newborn screening and highlighted the importance of Dr. Wasserstein’s study for our community.
Newborn Screening Update
We are getting closer to the day when the first baby will be enrolled into the ScreenPlus newborn screening pilot program in New York state. The entire Niemann-Pick disease community eagerly awaits what we will learn about the possibilities of better outcomes for NPC and ASMD when we can diagnose and intervene earlier – possibly even from birth. This novel pilot study is being led by Melissa Wasserstein, MD, of Montefiore Hospital. On December 31st, the Austin American-Statesman published a feature article about Firefly Fund’s work in newborn screening and highlighted the importance of Dr. Wasserstein’s study for our community. Please read and share! Austin family helping to get NPC1 disorder onto newborn screening test.
What a Year: 2020 Review for NPC Newborn Screening Initiative
By Pam Crowley Andrews, Executive Director, Firefly Fund and Allison Rosen, 3D Communications for Firefly Fund
In some ways it’s hard to believe we’re about to turn the page to 2021. In others, it’s surprising we’re not about to enter 2022. COVID-19 has laid a heavy burden across the world. Certainly, the NPC community was not immune. Despite all of the challenges brought about by the pandemic, Firefly Fund’s Newborn Screening Initiative completed a productive year – and we are excited about what is in store for the new one.
First, with the generous support of our many sponsors and funders, we were able to commit $500,000 to support the novel ScreenPlus newborn screening pilot study that expects to screen its first neonate in early 2021. Dr. Melissa Wasserstein and her team at Montefiore have worked tirelessly – amidst the spread of the coronavirus – to finalize details for the study which includes NPC among disorders that parents will have the option to screen for at birth. Eight high birth rate hospitals in New York are initially on board and it’s expected to screen about 175,000 newborns over 5 years.
We also were able to design and launch a truly innovative study with AllStripes that will – using patient health records – research the impact of earlier intervention in NPC. The study will compare health outcomes of siblings with NPC, looking at possible differential outcomes based on timing of intervention, where one child may be diagnosed following onset of symptoms that triggers the diagnosis of another child who is diagnosed before the onset of visible symptoms. If you are a parent with multiple children affected by NPC, or know someone who is, please look into participating in this critical research by visiting allstripes.com/npc.
Finally, while we of course would have much preferred to meet face-to-face, we held our second annual Clinical Roundtable – but our first virtual one! Twenty experts (along with more than 20 community and industry supporters) convened on a Zoom meeting to review new information and discuss questions to help align expert opinion on the timing for intervention for NPC when a child is diagnosed in a newborn screening context. Co-chairs Drs. Elizabeth Berry-Kravis and Marc Patterson asked the experts a series of questions including, whether treatment modality matter to timing of intervention; should patients experience a certain change in rate of developmental decline before initiating treatment; and How do we monitor developmental change and neurological function? We are compiling comprehensive notes from the meeting and will be sharing with the full team in early 2021.
The NPC Newborn Screening Initiative is a program of the Firefly Fund. NNPDF is proud to support this initiative as an active Working Group member.
Firefly Fund’s NPC Newborn Screening Clinical Roundtable
NNPDF is looking forward to Firefly Fund’s NPC Newborn Screening Clinical Roundtable set for Nov 13. The virtual meeting will be the second time that NPC and NBS expert clinicians and researchers will come together with a focus on when to intervene after a positive diagnosis of NPC through newborn screening. The meeting will include an update from Dr. Melissa Wasserstein of Montefiore on the launch of Screen Plus, an update from AllStripes LLC (formerly RDMD) on the NPC Sibling Study, as well as a first glance at a draft model for initiation of treatment. In addition to the 20+ roundtable experts, many NPC community and industry stakeholders will also be attending as observers of this important discussion.
Firefly Fund’s September Firefly Chat
In recognition of Newborn Screening Awareness Month we are sharing the Firefly Fund’s September Firefly Chat, which is sharing a recent discussion from the recent World Orphan Drug Congress from August, 2020. You can click here to listen. The panel discussion features speakers Pam Andrews, Executive Director of Firefly Fund ; Pat Furlong, with Parent Project Muscular Dystrophy; Emily Fields of Bluebird Bio; Dean Suhr, of the MLD Foundation; and Dr. Melissa Wasserstein, from Montefiore Medical Center. The panelists were moderated by Allison May Rosen of 3D Communications. Happy Newborn Screening Awareness Month!
NPC Newborn Screening Initiative Presents at NNPDF Annual Family Conference
Firefly Fund’s NPC Newborn Screening Initiative had the opportunity to deliver a presentation at this year’s NNPDF Family conference, updating participants on the latest activities with this important community activity. We focused on two research initiatives: 1) the ScreenPlus pilot newborn screening study is making final preparations to launch in the state of New York, amidst the covid-19 pandemic; and 2) the NPC Sibling Study, being conducted in collaboration with a research entity called RDMD, to compare health outcomes of NPC-affected siblings based on timing of initiation of treatment. You can check out the presentation here. The Initiative also hosted its third quarter Working Group call in July. We welcomed researchers from RDMD to discuss the sibling study in greater detail. They outlined the development of recruitment materials that are in the final stages of preparation. As soon as these are ready to go, Firefly and other Working Group participants like NNPDF will be sharing these with the NPC community so we can encourage families to participate. The research – with a study protocol being developed by leading NPC clinicians Drs. Elizabeth Berry-Kravis, Marc Patterson, and Denny Porter – will go a long way to helping the NPC community to demonstrate the impact and importance of intervening earlier in disease progression to improve health outcomes for people affected with NPC.
Extra Extra: Read All About Parallels Between Testing for COVID-19 and Newborn Screening Testing for NPC
Test, Test, Test. It’s the mantra we’ve been hearing for months to help the United States get a handle on the spread of COVID-19. Leaders of the NPC community’s newborn screening initiative heard the messages, too and wondered, “how are the calls for testing for the coronavirus different from testing for NPC?” Turns out, there are a lot of parallels. 1. Like the power testing affords us as we confront COVID-19, knowledge can also empower families in the newborn screening environment; 2. As with COVID-19 testing, we need nationwide and consistent newborn screening; 3. Just like with COVID-19, rare diseases often go undetected at first. Early testing is the only way to know sooner and take action; 4. Just as we’re learning with COVID-19, we need to build the testing capacity of our nation’s laboratories so we can better manage diseases earlier; and 5. Like COVID-19 where knowing sooner means a person can take immediate steps to “stop the spread,” knowing sooner with rare diseases means parents can make informed decisions regarding interventions.
The insights, authored by Firefly Fund’s NPC Newborn Screening Initiative leaders, Pam Andrews and Allison May Rosen were published by Rare Daily. Please read the article and help spread the word. Thank you!
Improve Medical Testing Beyond COVID-19
Pam Andrews and Allison Rosen’s well written article draws parallels in testing for rare diseases such as NPC and testing for COVID19. Read it here.
Research Opportunity for NPC Families: A Call for Participation
The NPC Community is engaged with a multi-disciplinary stakeholder group focused on adding NPC to newborn screening lists across the country (See Firefly Fund’s newborn screening initiative.) Since adding NPC to these lists would mean that all newborns would routinely be screened for this rare disease, it’s essential to demonstrate that intervening earlier in a patient’s disease progression is better and critical to improved health outcomes.
Within our small patient community, one way that leading NPC experts believe will help us tell this story is to look at families with multiple affected children.
Why is that? Often these families will have a child who, following significant symptom onset, is ultimately diagnosed with NPC. This diagnosis will trigger specific NPC testing of another child of the same family who may be diagnosed before the onset of visible signs and symptoms. NPC expert clinicians believe that if we are able to describe the different diagnostic and clinical journeys of these children – based on timing of intervention – we could have powerful evidence demonstrating the benefit of screening for NPC at birth, and the criticalness of earlier intervention.
What will we need for this research? 1) We will need to identify families with multiple children affected with NPC, both those who are currently living as well as those who may have passed. 2) An independent third party, RDMD, is providing a secure virtual filing cabinet for de-identified medical records from NPC families so that NPC experts can analyze the data in a effort to determine: a) how closely the course of disease is similar and b) what affect the timing of an intervention has on progression of disease.
Would you like to participate or like additional information? Please contact firstname.lastname@example.org and we can provide some more detail and discuss how you might partner with us on this important project. Thank you!
New Research Project Coming from the NPC Newborn Screening Working Group
The NPC community is engaged in a multi-stakeholder effort to add NPC to newborn screening lists across the country (See Firefly Fund’s newborn screening initiative.) Since adding NPC to these lists would mean that all newborns would routinely be screened for this rare disease, it’s essential to demonstrate that intervening earlier in a patient’s disease progression is better and critical to improved health outcomes.
Within our small patient community, one way that leading NPC experts believe will help us tell this story is to look at families with multiple affected children.
Why is that? Often these families will have a child who, following significant symptom onset, is ultimately diagnosed with NPC. This diagnosis will trigger specific NPC testing of another child of the same family who – if affected – may be diagnosed before the onset of visible signs and symptoms. If we are able to describe the different diagnostic and clinical journeys of these children – based on timing of intervention – we could have powerful evidence demonstrating the benefit of screening for NPC at birth, and the criticalness of earlier intervention.
Please stay tuned to the NNPDF Newsletter and other NPC community information channels for an opportunity to participate in this important research project. Thank you!
Meeting the Newborn Screening Requirements
The NPC community is engaged in a multi-stakeholder effort to add NPC to newborn screening lists across the country. Since adding any new condition to these lists would mean that any newborn would routinely be screened for a certain disease, it’s essential to demonstrate that the benefit to public health is greater than any burden to a family or to the larger public health system.
The federal government maintains a list of diseases and conditions that they have determined meet the standards for being included. That list, known as the Recommended Uniform Screening Panel or the RUSP, serves as the “Gold Standard” for states across the country that look to the federal government for advice when considering what to add to their own screening lists. In order to be included on the RUSP, a sponsoring organization must complete a nomination form that answers very specific questions regarding a condition’s “readiness” to be added. One of the questions asks for evidence that demonstrates the urgency of treatment. The application reviewers need to know how essential it is to identify a particular condition at birth so that an intervention can take place. Specifically, the RUSP nomination form asks, “How soon after birth must treatment be initiated to be effective?”
For NPC, this is an important and challenging question to answer. While there are several clinical trials ongoing to investigate the efficacy and safety of possible medications to treat NPC, we are still awaiting a first approval in the United States. Related to the gap that exists in an FDA-approved therapy, is the answer to the question of “when to treat.” To help gather the necessary evidence and expert opinion on this matter, the Firefly Newborn Screening Working Group has initiated the help of a Clinical Roundtable. This Roundtable is comprised of experts who are working to gain consensus regarding the timing for initiating treatment for patients positively identified with NPC following newborn screening. It’s important work that the Working Group not only believes will be essential for the quest for newborn screening, but also in the quest to improve clinical care for patients.
Firefly’s Newborn Screening Working Group Excited about Seeing 2020
The calendar has turned to 2020 and Firefly’s NPC Newborn Screening Working Group is full of anticipation and excitement about the year ahead.
As we begin the year, Firefly notes the Working Group is set for a full year of activities designed to advance the research supporting adding NPC to newborn screening lists. This includes the launch of the first-ever newborn screening pilot study that will include NPC. This will be the first time anywhere newborns will be screened for NPC. Additionally, the group is poised to raise awareness among even more stakeholders about the importance of including NPC on newborn screening lists. This includes our first presentation at the World Orphan Drug Congress taking place in April. Of course none of this would be possible without the incredible and growing support from our partners in industry, academia, and the nonprofit world. Three years ago it was hard to imagine where our nascent efforts would be today. But, with continued commitments from all, we look forward to making even more progress on our common vision where all newborns are screened for NPC, enabling a diagnosis at birth.
Wrapping Up Year of Progress: Advancing Newborn Screening for NPC
Firefly Fund’s Newborn Screening Working Group completed its final meeting of the year in December – the Annual Stakeholder Meeting. While in Washington, DC, the Working Group reviewed the year’s activities and set sights on key research and advocacy activities for 2020. Key activities for the past year included a series of Working Group calls, the first annual NPC Clinical Roundtable, the first NPC community webinar delivered in partnership with the NNPDF, and major community presentations.
Significantly, we were also proud to announce the inclusion of NPC in the ScreenPlus pilot newborn screening study in New York, the largest consented multi-disorder newborn screening pilot study ever conducted in the United States.
Key external speakers at the stakeholder meeting included representatives from the Association of Public Health Laboratories and the American College of Medical Genetics and Genomics. Leaders from both groups discussed key barriers and opportunities we can expect to face on the path to adding NPC to newborn screening lists nationwide. Experts outlined what the NPC community will need to demonstrate in terms of “readiness” for routine newborn screening – such as having an accurate screen and effective treatment options. They also described challenges in the public health system that could delay adoption – such as having a provider group that can manage patients and enough capacity in state labs to add an additional test.
Looking ahead, Firefly is excited to welcome additional supporters to the NPC NBS Initiative, broadening stakeholder support for the effort from industry, the NPC Community and NPC/NBS experts. Learn more here.
Historic News: First-Ever NPC Newborn Screening Pilot Study
It’s official! The ScreenPlus program in New York state that will include NPC received a major award from the National Institutes of Health that will allow the program to move forward. ScreenPlus is the most expansive consented pilot newborn screening study in the country, where families of newborns born at 8 New York hospitals will be offered the option to have their babies screened for an additional 13 disorders – including Niemann-Pick C. This is the first time any newborn, anywhere in the world, will be given the option of being screened for NPC at birth.
The Firefly Fund’s NPC Newborn Screening Working Group member Dr. Melissa Wasserstein of Montefiore Hospital in NY is leading the study. And Firefly is one of the funders supporting the program through a unique cost-sharing collaboration that also includes academic centers and several pharmaceutical companies.
NNPDF joins Firefly, all its Working Group members and supporting NPC stakeholders in congratulating Dr. Wasserstein on this major accomplishment. This study is history-in-the-making as the NPC community will begin to gather evidence regarding the importance of early diagnosis and intervention in the treatment of NPC. Learn more by clicking on this official announcement – and share the news with your networks!
September is Newborn Screening Awareness Month
September is Newborn Screening Awareness month – a great time to raise awareness about the efforts the Niemann Pick community is undertaking to add NPC to newborn screening lists nationwide. Led by the Firefly Fund’s Newborn Screening Working Group, all month long, you can follow updates on Twitter and LinkedIn about the importance of newborn screening, what it entails and what it would mean for the NPC community. For example, one Tweet noted, “Newborn screening can help families of children with rare diseases avoid a long diagnostic odyssey. Knowing sooner is better!” And another informed people that “Newborn screening is not just a test.” The NPC Working Group is working with a wide range of stakeholders to demonstrate how screening for NPC will fit into the US public health care system. That means demonstrating we can effectively screen, diagnose, refer and care for any family who receives an NPC diagnosis through newborn screening. Follow #Fireflyfund this month and beyond for newborn screening updates. Thank you!
NNPDF to Join National Effort to Add NPC to Newborn Screening Lists
Have you ever heard of baby’s first test? In every state across the nation, hours after birth, infants are tested for a limited number of harmful or potentially fatal disorders that aren’t otherwise apparent at birth. A simple blood test can inform families whether their newborn has a certain condition or not. And when a screening comes back positive, clinicians inform families about the possibility of their newborn having a rare disease. While certainly unexpected, knowledge can bring power. Early diagnosis and treatment can sometimes make the difference between lifelong impairment and healthy development.
Today, however, even though technology exists to detect the disease at birth, NPC is absent from our nation’s newborn screening programs. NNPDF is proud to be joining the Firefly Fund’s NPC Newborn Screening Working Group, focused on advancing the cause of newborn screening for NPC. This multi-disciplinary stakeholder Working Group includes NPC researchers and clinicians from academic centers of excellence and the NIH, representatives from several NPC family foundations, key industry partners, and NPC advocates. While diverse in expertise, the Working Group has a common goal: to advance the cause of newborn screening for NPC and solidify its inclusion on the federal government’s Recommended Uniform Screening Panel (RUSP). The RUSP is the gold standard states look to when selecting conditions to include in their public health screening program.
NNPDF looks forward to working on this critical endeavor, helping to accumulate scientific evidence that demonstrates the positive public health benefit of routinely screening all newborns for NPC. While there is still much unknown about this ultra-rare disease, there is general consensus regarding the value and importance of early diagnosis. Such a change in the disease paradigm would enable clinicians and families to determine much earlier how and when to intervene. And, hopefully, to improve patient outcomes.