Newsletters
Message from the Executive Director
Dear Friends and Families,
The world has changed a great deal since our last Newsletter. The COVID19 pandemic is creating unprecedented challenges in our daily lives. This may be physical health, mental health, economic, or social. New terms like social distancing and self-isolation have entered our vocabulary. For the rare disease community, the health risks and potential complications can be high and additional challenges to medical supplies, medical appointments, and care services may have already been encountered by some. Stress levels are exacerbated for everyone, and this is especially noted in rare disease families who are already faced with higher stressors on a daily basis.
We are proud to have a Scientific Advisory Board working on the front lines is hospitals across the country. We are especially proud of our NNPDF Board Chair, Dr. Justin Hopkin, who is working tirelessly in his capacity as a physician at Rochester University Medical Center.
NNPDF is here for you. Now more than ever, it is vital that we support one another and support our community. We will continue to fight for access to treatments and to carry your voice to the FDA. We will continue to provide family services programs for you, such as our upcoming webinar on Self-Care: Taking Care of You in Challenging Times, which will include a guided meditation. Watch for other programs over the next few weeks designed to create virtual gathering to connect with one another and decompress.
We know that everyone is wondering whether our annual Family Support & Medical Conference will still take place in early July. We are monitoring the COVID19 situation closely and realize that plans are in flux right now. We believe that it is important for our Niemann-Pick community to have the opportunity to come together in-person each year for our Family Support & Medical Conference. We know that our clinical and family services sessions provided at our Conference are important to you, and moreso, the shared experience of simply being together with friends and those who “just get it” is invaluable.
The health and safety of our families is our primary concern. We are following the Centers for Disease Control (CDC) recommendations and consulting with our clinicians and how the virus impacts gatherings, travel, our families and the conference. We are currently monitoring our July date as well as looking at alternate dates that may be possible. We will continue to assess the situation and update you in a few weeks with any new information regarding the status of the conference.
On an exciting note, NNPDF has recently begun preparing to conduct a survey of the U.S., Niemann-Pick disease community to further understand the patient and healthcare provider experience in Niemann-Pick as it relates to health insurance knowledge, coverage, as well as the burdens experienced by patients and their families pertaining to access of medications, services and devices. This is one of several advocacy campaigns prioritized for the Niemann-Pick community over the next 2 years. It will be the most comprehensive survey of the Niemann-Pick health insurance landscape to be conducted in the U.S. and will allow us to better support you.
And speaking of Supporting One Another, I hope that you’ll take a moment to build a pyramid and be part of our #NNPDFPyramidChallenge2020! From now through May, post and share your creative pyramid on social pages. Go big or go small. Use #NNPDFPyramidChallenge2020 and @NNPDF in your caption to be entered in a drawing for one of three $50 Amazon Gift Cards! You can enter as many times as you like! Don’t forget to challenge your friends to “Do or Donate $20” to the NNPDF to help support Niemann-Pick families. Remember to tag #NNPDFPyramidChallenge2020 and @NNPDF.
Warm wishes,
Joslyn Crowe,
Executive Director
[email protected]
NNPDF Pyramid Challenge 2020
Looking for something fun to do to support your Niemann-Pick Community and raise awareness of Niemann-Pick disease? Join the NNPDF Pyramid Challenge 2020 and show us how YOU pyramid!
From now through May, post and share your creative pyramid on social pages. Go big or go small. Use #NNPDFPyramidChallenge2020 and @NNPDF in your caption to be entered in a drawing for one of three $50 Amazon Gift Cards! Enter as many times as you like!
Challenge your friends to “Do or Donate $20” to the NNPDF to help support Niemann-Pick families. Remember to tag #NNPDFPyramidChallenge2020 and @NNPDF.
NPD community… Show us how YOU pyramid!
NNPDF Family Support & Medical Conference
Friends,
We are monitoring the COVID19 situation closely and realize that plans are in flux right now. We believe that it is important for our Niemann-Pick community to have the opportunity to come together in-person each year for our Family Support & Medical Conference. We know that our clinical and family services sessions provided at our Conference are important to you, and moreso, the shared experience of simply being together with friends and those who “just get it” is invaluable.
The health and safety of our families is our primary concern. We are following the Centers for Disease Control (CDC) recommendations and consulting with our clinicians and how the virus impacts gatherings, travel, our families and the conference. We are currently monitoring our July date as well as looking at alternate dates that may be possible. We will continue to assess the situation and update you in a few weeks with any new information regarding the status of the conference.
Please stay safe and follow the recommended healthcare guidance on COVID19. As always, we are available for any questions.
Taking Care of You: Self Care in Challenging Times
Are you searching for manageable ways to take some time to care for yourself especially during moments of stress and uncertainty?
Please join NNPDF and NTSAD as we jointly present the upcoming forum Taking Care of You: Self-Care in Challenging Times led by Shoshanna Hecht, LCSW, on Wednesday, April 1, 2020 at 2:00 pm EST/11:00 am PST via Zoom Webinar.
This community forum will include practical tips on manageable, every day self-care, a guided meditation, and time for Q&A.
Shoshanna Hecht is an Executive and Personal Coach based in New York City, with previous experience of over 10 years as a clinical therapist on the west coast. Shoshanna also leads guided meditations to boost confidence while reducing stress, self-doubt, and overwhelm. They can be found both on her website and on the Meditation Studio App named one of Apple’s 10 Best Apps of the Year.
Volunteers Needed
Thank you to those of you that have shown interest in volunteering for the NNPDF! Your time is invaluable to our NPD community. We are currently collecting resumes and letter of interest from those interested in volunteering skills and time to assist with focus groups, committee teams and even as a Board member. If you are interested in becoming a NNPDF volunteer, please let us know at [email protected] and we will follow up with you with the process for applying.
Please send all letters of interest by April 15th.
In the Spotlight
Tell us a bit about yourself, such as where do you live and what do you enjoy doing
I go by “Dee”. I am one of six children, and the only one to be ‘gifted’ with NPC. As a teenager I used to re-build car engines and street race. I am the mother of one and the “Nonna” of one. I used to love crafting and scrapbooking.
When did receive your diagnosis? What led you to diagnosis?
In 2005 the neurologist I was seeing for migraines noted that I had some slurred speech and some minor gait issues. This disease is insidious for very late on-set. In 2011, I was struck with Bell’s Palsy, but it never totally resolved, sort of began my downfall. It wasn’t until a gap of about 18 months of not seeing that neurologist and him recognizing that something was really wrong that my diagnosis began. I was first diagnosed with Spino-cerebellar Ataxia – by MRI showing cerebellar atrophy and simultaneously by my speech therapist. What kind of SCA led to genetic testing. The first panel was inconclusive and suggested Sialadosis – but only one allele in an autosomal recessive disease. I was referred to NIH, had an exome sequencing, inconclusive. Finally, I was referred to the geneticist at Walter Reed (my husband is retired military). The geneticist also works at NIH with one of the doctors who works in the Undiagnosed Diseases Program. In May of 2018 I was evaluated by the UDP – 42 vials of blood, untold scans, pokes, testing in 4 days. Results were provided in Aug 2018, I have NPC1, only one allele, but the oxysterols are there to provide diagnosis. So, at age 59 I was diagnosed with a disease that hits infants, children, and if diagnosed late, teens.
What were the first steps you took after diagnosis?
After diagnosis I met with the doctor who leads the NPC program at NIH and was entered in a natural history study, more test, etc. Thank the Lord for the Interwebs. I was able to research the disease, and learn more about it.
How did you learn about NNPDF?
The Interwebs, what more to say.
What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
As an adult onset patient, I wanted to know more – for my own understanding. Now having seen other patients and families, I see we are all in this together. What helps one, helps all.
What changes have you seen in the Niemann-Pick environment over the past few years?
I haven’t been involved long enough to recognize the changes. However, if you look at the literature, you will see that five years ago, the general message was that NPC was a rare debilitating disease, and everyone had passed on by age 40. Today I’m aware of at least three clinical trials that are improving symptoms, quality of life, and reducing the impact of this disease.
What are your hopes for the future for yourself and for the Niemann-Pick community?
I just completed a phase one clinical trial. Before the trial, I would choke on food or drink at least once per day, often more. Particulate pneumonia is a leading cause of death in NPC patients. After seven doses, at two-week intervals, I am down to choking and coughing about once per week. My speech is also noticeably improved. I am now looking to extend access to the treatment drug. I just need to deal with symptom regression waiting on those infusions.
As for the community, I see the family and those afflicted are united and supportive. I’d like to see the same in the research and medical community.
NNPDF Research Fellowship Applications
We are excited to announce the NNPDF Research Fellowships are open for 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 18 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, 2020
Rare Disease Week on Capitol Hill Summaries
Rare Disease Week on Capitol Hill took place in Washington DC during the last week of February, where rare disease advocates were given the opportunity to meet with Members of Congress and to learn about policy updates and best practices for successful advocacy. A special Thank You to Margo Frey, Havi Martinez, Anne OConnor Smith, and Shannon Reedy for attending this event on behalf of you, the Niemann-Pick community.
Click below to read the
Rare Disease Week on Capitol Hill took place in Washington DC during the last week of February, where rare disease advocates were given the opportunity to meet with Members of Congress and to learn about policy updates and best practices for successful advocacy. A special Thank You to Margo Frey, Havi Martinez, Anne OConnor Smith, and Shannon Reedy for attending this event on behalf of you, the Niemann-Pick community.
Click below to read the summaries of their learnings and experiences.
NNPDF Launches Important Community Survey
Survey will be the most comprehensive of the Niemann-Pick insurance landscape conducted in the US
The NNPDF has recently begun preparing to conduct a survey of the U.S, Niemann-Pick disease community to further understand the patient and healthcare provider experience in Niemann-Pick as it relates to health insurance knowledge, coverage, as well as the burdens experienced by patients and their families pertaining to access of medications, services and devices.
This is one of several advocacy campaigns prioritized for the Niemann-Pick community over the next 2 years. The survey will identify health insurance usage, access, and barriers across the country. The survey will also allow us to better understand where the community may need more tools or assistance in understanding the complexities of health insurance. The data gathered from this national survey will provide a credible quantitative platform for NNPDF when speaking with legislators, key opinion leaders, and media about access to medications, pricing, economic impact, or legislative reform. This is the most comprehensive survey of the Niemann-Pick health insurance landscape to be conducted in the U.S.
We are excited to work with Engage Health, Inc., a health research firm on this project. The firm is led by Patti Engel who brings over 25 years of experience in orphan and specialty products to her work and has developed similar tools for other rare disease communities. Engage Health, Inc. has a long history of conducting market research and PRO research in the rare disease space. Ms. Engel was the keynote speaker at the NNPDF Family Support & Medical Conference in 2019 and spoke to challenges & realities for the Niemann-Pick community during the regulatory process and post-approvals.
The survey will open to the Niemann-Pick community for participation in late spring/early summer and will consist of an online survey followed by a phone interview. The data gathered in the survey will be published and shared publicly once complete.
NNPDF Community Update Webinar Series
Join us for our Community Update webinar series upcoming events! We have a fantastic line up for you. Visit our Upcoming Webinars webpage for all webinar information.
Community Update Webinar Series featuring Newborn Screening
Monday, April 20, 2020 | Click here to register!
Community Update Webinar Series featuring Mallinckrodt
Monday, April 27, 2020 | Click here to register!
Community Update Webinar Series featuring Sanofi Genzyme
Wednesday, May 6, 2020 | Click here to register!
Community Update Webinar Series featuring IntraBio
Sunday, May 17, 2020 | Click here to register!
INPDR Update
The INPDR would like to take this opportunity to wish all our friends and families in the NNPDF community well. We hope you are all keeping safe and healthy and making use of any support available. If the INPDR shows us anything, it’s that we’re stronger together so please keep in touch. The work of the INPDR continues despite the challenges we now face because of the COVID-19 pandemic.
If you haven’t been following the progress of the INPDR recently, now is the time to take notice.
We have made some very exciting changes to the Registry over the last year, which will improve the quality and quantity of data held in the registry, as well as opportunities to collaborate with the Niemann-Pick disease community and key stakeholders, including clinicians, researchers, regulators and industry.
The electronic data capture (EDC) system has been migrated to a new host, OpenApp Ltd, based in Dublin, Ireland, which has included redeveloping the Clinician Reported Database and Patient Reported Database to be more user friendly, secure and insightful.
The work we are doing will make sure the INPDR supports the development of treatments, improved understanding and diagnosis and better quality of care – all through harnessing the power of patient data and experience.
We also have a new Registry Manager in place, Dr Conan Donnelly, who brings with him a wealth of skills, including a research background and direct experience of managing patient disease registries. We welcome Conan to the Registry Management Team as he will enhance the knowledge and specialisms of our strong team. Please expect to see a lot more of him over the coming months.
The INPDR website has also been updated and you can now connect with us on Facebook @INPDR Twitter @inpdr_tweets and LinkedIn . We had been planning on attending several events this year. As is the case for many, this is no longer possible, but we are still making our presence known and taking part online where the option is available. The INPDR have always recognised how technology can support the work we do and enable the Niemann-Pick disease network – this has never been so well demonstrated as it is now.
You may already know that the Patient Reported Database has been out of action while we made these important changes. It is now back up and running so we will be directly contacting patients and their families who have already signed up to the Patient Reported Database to reactivate their accounts. If you already have an account, please look out for our emails and keep an eye on our social media channels for updates.
As part of launching the new website and EDC system, we will also be running a campaign to improve understanding of the INPDR, the short- and long-term benefits for the community and encourage more patients and their families to sign up and share their data either through the clinician reported database and/or the patient reported database.
The NNPDF continue to be highly valued supporters of the Registry and the INPDR will be working with them on a few projects, including regular updates in the NNPDF newsletter and a webinar, so please look out for them. We will also be updating the information on the NNPDF website so if you have any thoughts about what you would find useful, please get in touch with Ange Wilson ([email protected]).
The INPDR is a global gateway to a lasting legacy so your participation is as valued now as it’s always been.
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Updates from Cyclo Therapeutics:
Cyclo Therapeutics announces Positive Safety Profile of its drug Trappsol® Cyclo™ in the treatment of Niemann-Pick disease Type C. Click here for complete announcement.
Cyclo Therapeutics announces positive feedback from FDA on its Pivotal Trial Design for Trappsol® Cyclo™ for Niemann-Pick disease Type C1s. Click here for complete announcement.
Updates from IntraBio:
IntraBio receives Fast Track Designation from FDA for IB1001 treatment of NPC. Click here for complete announcement.
IntraBio announces extension phase for NPC accepted in the United States. Click here for complete announcement.
Update from Orphazyme:
A message from Orphazyme has been shared to the global community of patients, family members and healthcare providers impacted by the corona virus pandemic (COVID-19). Click here for complete announcement.
Therapeutic Updates
Gene therapy is an experimental technique that uses genes to treat or prevent diseases that have no cure. This promising technique may allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or surgery. Visit our Gene Therapy web page for up to date information on all gene therapy updates.
Update from Evox Therapeutics:
Evox Therapeutics and Takeda Sign Multi-target Rare Disease Collaboration. Click here for complete announcement.
Fundraising & Awareness Opportunities
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. Click here to view current and past fundraising and awareness events.
Facebook Fundraisers
THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at [email protected] to let us know.
Kate Wills, Miss Urbana’s Outstanding Teen 2020
Dreams for Dillon – Inspiring young people to use their gifts and talents for good
Kate is an Urbana resident and a sophomore at Urbana High School. She was crowned Miss Urbana’s Outstanding Teen 2020 this past November and is now on a journey to become Miss Maryland’s Outstanding Teen 2020 and Miss America’s Outstanding Teen 2020. Kate has a passion for dance and loves performing with the Urbana Dance Studio. She is planning to study medicine and to ultimately obtain a profession as a pediatrician.
Kate’s platform is Dreams for Dillon, where she hopes to raise awareness of Niemann-Pick disease, raise funds for the people working toward a cure, all while sharing the message that not everyone has the same abilities and gifts, so they should take advantage of their own gifts and talents and use them to be their best self and to give back to others. Kate’s friend Dillon Papier didn’t have that opportunity because the Niemann-Pick disease took his abilities from him. An excerpt from her platform reads, “As Miss Maryland’s Outstanding Teen, I will have the opportunity to reach a wider audience, build greater awareness, and increase the likelihood of finding a cure for kids like Dillon all while spreading the very important message that all young people should use their gifts and talents to make the world a better place and be their best self.” Kate is excited for the year ahead as she educates others about how they can make a difference and inspire those in her community to believe that their voice matters.
Kate will be competing in Miss Maryland’s Outstanding Teen 2020 (June) and Miss America’s Outstanding Teen 2020 (August). The NNPDF wishes all the best to Kate in her upcoming endeavors!
Jamberry Niemann-Pick disease Nail Wraps
Show your support in the fight against Niemann-Pick disease with these custom Jamberry nail wraps. 30% of all sales will be donated to the National Niemann-Pick disease Foundation for family support services. Click here for ordering details. Available year round.
Have you hosted a fundraiser for NNPDF recently?
Send us your photos and we’ll share them and details from your event in upcoming newsletters!
Upcoming Events
Check out our Upcoming Events page.
Stay Connected With Us
A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.
NNPDF Community,
What is Rare Disease Week on Capitol Hill?
To raise awareness for Niemann-Pick disease and Rare Disease Day the NNPDF has created a custom frame for your Facebook profile pictures. Also, please feel free to display and share the NNPDF Rare Disease Day Facebook banner to promote awareness.
Registration details will be coming soon for the 2020 Family Support and Medical Conference! Conference program dates are July 9 – 11, 2020 in San Antonio, Texas, with a SPECIAL EVENT you don’t want to miss on Sunday, July 12th.
Dr. Ed Schuchman
The NPC community is engaged in a 
2020 StrideBio NPC Awareness Event: