October 2018 Newsletter
Message from the Executive Director
Dear Friends and Families,
October Awareness Month has been filled with activity! We have robust Niemann-Pick disease awareness programming through daily social media posts, and webinars, and family services initiatives. We’ve participated in conferences and made our voice heard on your behalf.
This is an important time of year for our community. It is our time to share information on Niemann-Pick disease with those who may be unfamiliar, to be inspired by our own community members, to remember those who have past, and to learn more about research and clinical trials in progress. We are fortunate that several of our industry partners had exciting news to share this month and also used this month to highlight Niemann-Pick disease.
With your continued support, and the hard work of our staff and board, we are committed to delivering on some very important initiatives that will help our community. They include:
- Piloting a family services program to support all families and patients along the Niemann-Pick journey and to understand what are your highest priority needs. From newly diagnosed to grieving, caregiver or extended family member, your experiences are valuable to the structure we are building. Please read our Family Services update and continue to reach out to Laurie Turner, our Family Services Manager at email@example.com.
- Partnering with the pharmaceutical companies to make sure your voice is heard.
- Working with the FDA to educate them on Niemann-Pick and the role of the national patient organization.
- Enhancing our communications through social media, our website, and our blog… If you want information, it’s available!
Last year you showed your support as a community and together help us exceed our $150,000 goal for the Vision of Hope Campaign. We are so grateful for all of you who have done what you are able to do to support the NNPDF.
We are ready to provide MORE of the resources our families need and deserve and we need your support to do this. We envision a future where families can be completely supported through every phase of this disease. If you share this vision with us, please consider as a family member, friend or professional service provider making a donation so that we can continue to deliver these resources and the goals we set last year to meet families, no matter where they are along their journey.
We are at such an important time with potential clinical treatments on the horizon and a new beginning for our community. With your help, the NNPDF will continue to be the unbiased patient organization, to advocate on issues that matter, and to represent your voice at the national level.
Thank you for your continued partnership.
Joslyn Crowe, MSW, MA
NNPDF Executive Director
Family Services Update
The past three months have been a whirlwind of activity here at the NNPDF in my new role as family services manager. I would like to thank all of those who have taken the time to welcome me and share your NPD experiences with me. As many of you are aware, I was able to jump right into the position by attending the annual family conference in August – this opportunity to be surrounded by all of you was very valuable and helped me move forward in my day-to-day activities. During my time here, I have been able to speak with both newly diagnosed families as well as our veteran families. All your experiences shared with me, allow me to better help all families currently battling NPD and those who are just learning of these devastating diseases. If you have not heard from me, please email me at firstname.lastname@example.org so we can set up a time to talk. I would love to talk with everyone in our membership.
I’ve had the opportunity to speak with new members as they enroll with the NNPDF, with members updating their contact information, and those who need some guidance. Please know I am here to assist with all phases of the Niemann-Pick journey – if you need anything or have questions, please reach out.
I had the privilege of attending a caregiver working group hosted by Mallinckrodt in early October. Sitting in the meeting room, listening to the parent caregivers share their life experiences was a very powerful experience. Learning how the NNPDF can continue to better assist our community is a top priority and I value every opportunity to learn directly what is most needed by you – our families. Please make sure your contact information is up to date, so you will be aware of other future market research opportunities within the Niemann-Pick community.
We recently hosted the first in our new webinar series International Niemann-Pick Disease Registry (INPDR) U.S. Launch, a very informative presentation led by Dr. Justin Hopkin, NNPDF Board Chair. The presentation was followed with a question and answer session with the audience. If you missed, it please be sure to check it out today. Let me know if you have any questions about the registry and its importance to the greater NPD community. Stayed tuned for future webinars!
I will also be hosting some small group video chats in the upcoming month – please take a few moments to participate in a brief survey to help us determine topics and best times. This will be a great resource for our community to learn and share with one another. Each group will be limited to a small number of participates to ensure the best possible experience for everyone involved so be sure to sign up early!
Laurie J. Turner
October Niemann-Pick Disease Awareness Month
In conjunction with Niemann-Pick Disease Awareness Month the NNPDF hosted a webinar on October 10th entitled The International Niemann-Pick Disease Registry (INPDR) U.S. Launch led by Dr. Justin Hopkin, NNPDF Board Chair. Thank you to all that joined us and participated in the Q & A. Justin shared information about the INPDR process and how to enroll in the registry.
We are in the process of planning the upcoming webinar titled Clinical Trials and Expanded Access Program to be held later in the month. Watch for details to be shared soon.
We had a fantastic response to the Facebook profile picture request and it’s great to see you all posting them, along with sharing the Niemann-Pick Disease Quick Facts! Spreading awareness is key! Proclamations were declared in the states of Wisconsin and Maryland in recognition of Niemann-Pick Disease Awareness Month.
October Awareness Month is an important time of year for our community. We are proud to represent the national patient voice at every stage of the Niemann-Pick journey and we take our role as an unbiased advocacy leader seriously. To make a donation to NNPDF and help us continue delivering essential services to the community as the national patient organization, please click here.
Dr. Andrew Lieberman is the Co-Chair of the NNPDF Reinvention Advisory Committee. He is the Gerald D. Abrams Professor in the Department of Pathology and Director of Neuropathology at the University of Michigan Medical School. He received his BS from Duke University and his MD, PhD from the University of Maryland Medical School. He trained as a research fellow in the Neurogenetics Branch of NINDS at the National Institutes of Health and then joined the University of Michigan Medical School faculty in 2001. Dr. Lieberman’s research focuses on the mechanism of neurodegeneration in inherited neurological disorders. His laboratory uses cell culture and mouse models to explore the pathogenesis of Niemann-Pick C disease and Kennedy’s disease, a degenerative disorder of the neuromuscular system.
What inspired you to begin researching NPC?
I started working on NPC after moving to Michigan. The faculty member in my department who led the recruitment that brought me to Ann Arbor is a former member of the scientific advisory board of the Parseghian Foundation. He encouraged me to get into the field. At the time, there were many excellent cell biologists interested in NPC, but relatively few neurobiologists and no neuropathologists. He thought that we could make an important contribution to NPC research by bringing a different perspective.
What changes have you seen in the field of NPC research throughout your career?
The transformation in our understanding of NPC disease has been tremendous. Over the last decade, we have developed a deep understanding of how the NPC1 and NPC2 proteins function together as a molecular machine to facilitate the movement of cholesterol from inside lysosomes to other points within the cells. This knowledge complements the emerging realization of the importance of lysosomes, not only as cellular degradation depots, but also as critical nodes that regulate cellular energy metabolism. Our knowledge of disease mechanisms also has been facilitated by the development and characterization of an array of model systems, including a number of important mouse models and the cat model. These have played critical roles in preclinical testing of therapeutic strategies. Thanks to the work in model systems, the community now has several drugs in clinical trial.
How did you come to be involved with the NNPDF?
I was invited to join the NNPDF scientific advisory board while Dan Ory was Chair. I was delighted to get involved with a patient advocacy organization that provides critical support for patients and families. Over the years, the SAB has reviewed applications for grant funding and provided advice to the NNPDF leadership on a variety of topics. When Dan stepped down as SAB Chair, I was asked to take over that role and I was happy to do so.
What do you enjoy must about your professional role and your volunteer role with the NNPDF?
Without question, the most enjoyable aspect of working with the NNPDF has been getting to know the members. Interacting with patients who suffer with the disease we study and talking with parents and caregivers is tremendously impactful. One of the great privileges of performing disease-related research is interacting with individuals whose lives are touched by the diseases we study.
What do you think the future of NPD looks like?
From a therapeutic standpoint, this is an incredibly hopeful time. Drugs are in clinical trial that may be disease modifying for both NPC and ASMD. These activities have spurred interest from a number of additional companies that may bring alternative strategies forward for testing in patients. Moreover, the NPC and ASMD research communities are flourishing, and because of this, new ideas are being tested in preclinical model systems. Complementing all of this activity is the fact that the NPD community is fortunate to have a number of important resources. These include a reinvigorated patient advocacy organization in the NNPDF that will facilitate interaction with drug companies and government officials including federal regulators, and the development of a patient registry, which is an incredibly important resource that will be controlled by NPD families.
Marc C. Patterson, MD, FRACP, FANA, FAAN, Professor of Neurology, Pediatrics and Medical Genetics at Mayo Clinic College of Medicine and member of NNPDF’s Advisory Committee recently testified at the U.S. Senate Committee Hearing on Health, Education, Labor, and Pensions. At the hearing entitled Rare Diseases: Expediting Treatments for Patients Dr. Patterson stressed the importance of accelerating the approval of drugs by the FDA to treat rare and ultra-rare diseases.
Recommendations for specific measures regarding drug approval for rare and ultra-rare diseases to provide FDA regulators with a more refined set of tools to benefit the under-served population included:
- Requiring the FDA to accept alternative study designs that are better suited for these small, inhomogeneous, populations.
- Requiring the FDA to accept the results of well-conducted clinical trials supervised by national regulatory agencies outside the United States, or by such agencies acting in concert with the FDA.
- Requiring the FDA to work with national patient organizations, academic medicine, industry and other international regulatory agencies, to develop disease registries, ideally patient owned and managed, containing secure, professionally entered and patient/parent entered data, which will be used to enhance understanding of natural history, to develop outcome measures, and to support clinical trials.
To make your voice heard on this issue contact your legislator!
Over the past months, the NNPDF has identified the need for ongoing communication and updates from our industry partner Sanofi Genzyme. The Sanofi Genzyme team has heard this request and is working hard to deliver consistent updates to the ASMD community, highlighting the value of community-industry information exchange.
Recent steps towards this include:
- ASMD community member, Jeff Bebout, spoke at Sanofi Genzyme during October Awareness Month. Jeff shared his personal experience living with ASMD, his path to diagnosis, his health challenges, and his hopes for the future with Sanofi staff at the Cambridge, MA headquarters.
- The community requested an FAQ from Sanofi during their session together at this year’s NNPDF Family Conference. The purpose of this document is to address several important questions that the ASMD community has within global guidelines that the company has set. Sanofi is currently working on responding to our FAQ and is eager for its presentation to the community.
- Sanofi is working with the International Niemann-Pick Disease Alliance (INPDA), which NNPDF is a member of, to create a 1-page informational document on ASMD for healthcare providers as well as a patient version.
- Several community surveys are soon to be underway related to ASMD. These include a Treatment Preference Study and a Caregiver Burden Study. More detailed information regarding these research studies to follow.
- Additional information related to Niemann-Pick Disease Types A/B (ASMD) patient and trial information is available on our website.
NNPDF in Action
Clinical Trial Updates
Updates from CTD Holdings, Inc.:
- CTD Holdings, Inc. Posts Recording of its Webinar on US Clinical Trial. Click here for complete announcement.
- CTD Holdings, Inc. Announces Plans to Broaden its Expanded Access Program for Trappsol® Cyclo™. Click here for complete announcement.
- CTD Holdings, Inc. Establishes Second Clinical Trial Site for US Phase I Clinical Study of Trappsol® Cyclo™ for Treatment of NPC. Click here for complete announcement.
- CTD Holdings, Inc. Announces Top-line Data from Two Ongoing Clinical Trials of Trappsol® Cyclo™ Administered Intravenously in NPC. Click here for complete announcement.
Updates from Orphazyme:
- Orphazyme endorses patient advocacy consensus guidelines, highlights importance of collaboration with patient communities. Click here for complete announcement.
- Orphazyme Reports Encouraging Arimoclomol Clinical Trial Top-Line Data in NPC. Click here for complete announcement.
Update from Sanofi Genzyme:
- Shining a Light on Diagnosis for Rare Genetic Disease Patients: The Lantern Project from Sanofi Genzyme and PerkinElmer expands access to free diagnostic genetic testing for a number of lysosomal storage. Click here for complete announcement.
The NNPDF posts new information regarding clinical trial updates as soon as it is received. Please review our Clinical Trial Update procedure for alerting you to these updates as they are made. READ MORE
Fundraising and Awareness Events
Check out the following recent fundraising events! 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.
12th Annual Dillon Papier Charity Golf Tournament | September 2018
In memory of Dillon Papier – NPC
Running 4 Kelly | September 2018
Becky McGuire 10k run in honor of Kelly Thompson – NPC
6th Annual Golf 4 Garrett | July 2018
In honor of Garrett Hopkin – ASMD
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@example.com to let us know.
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!
NNPDF Equipment Exchange
The NNPDF Equipment Exchange program assists those who wish to donate pre-owned equipment to others who may be in need. Click here to check out all items available. If you have any questions or an interest in any items, please contact the NNPDF at firstname.lastname@example.org.
Shop and Support the NNPDF!
If you enjoy shopping online, you can do so AND support the NNPDF! How? Simply click here and follow the links for information and registration. Remember to choose the National Niemann-Pick Disease Foundation as your supporting cause. With every purchase these supporters donate a portion of your purchase to the NNPDF. You shop… They give. Don’t forget to share these links with your friends!
Stay Connected With Us
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