June 2021 News
Message from the Executive Director | Family Support & Medical Conference
NNPDF Welcomes New Board Members | Thank You Missy Ward | New Advocacy Committee
Membership Update | ASMD Scholarship Opportunity | Milestones | INPDR Update
ASMD Market Research Opportunity | ASMD Accelerate Study | Newborn Screening Research Study
Clinical Trial Update | Community News Update | Comprehensive Care Centers
| Emergency Hardship Program | Patient AirLift Services | Fundraising
Dear NNPDF Community,
US families have faced several challenges over the past few months in NPC. Uncertainly over the sale of adrabetadex to Mandos LLC loomed in bankruptcy court, access barriers placed on its US expanded access program, and the recent FDA decision of a Complete Response Letter for Arimoclomol have made our families’ voices more important than ever. In early April, NNPDF held an FDA-requested Listening Session on Niemann-Pick disease. In one short hour, our leadership, including clinical leaders and patient-experts, conveyed the breadth of challenges that we are facing as an ultra-rare disease and voiced our unwavering support for all the experimental therapies in our pipeline. We stressed the urgency of access to safe and effective therapies for our patients now – a reminder to the FDA that our patients don’t have the luxury of waiting years more for an approved treatment in the US. Following this event, petitions have been signed in support of specific therapies, letters have been sent to FDA members, and NNPDF formed its new Advocacy Committee. As the national patient organization, we continue our steadfast support for Niemann-Pick families’ ultimate goal of having FDA-approved treatments in the US.
Next month we will hold our NNPDF Family Support & Medical Conference, taking place as a virtual conference event. We anticipate over 300 diagnosed individuals, family members, researchers, clinicians, and pharmaceutical industry participants will come together for the weekend-long interactive events consisting of clinical and research updates as well as our family support break-out sessions.
The events are free for families and for medical & research professionals making it a great opportunity to take advantage of the online format to learn about the latest news in Niemann-Pick disease. Conference events take place July 29th – 31st, followed by the INPDA Biennial Meeting on Sunday, August 1st. To register for these events, go to nnpdfconf.org.
Our Family Services programs are busier than ever, offering forums for families to connect and share. This spring we launched our Navigating Together program which provided small-group support sessions for bereavement and loss. Sessions were no-cost to family members, required an 8-week commitment, and were led by a trained counselor.
We are also pleased to announce the launch of a new scholarship – the Joele Ruppert and Joseph Colton ASMD Scholarship provides one-time funding of $500.00 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions. The Scholarship fund began in August 2020 when Evren Ayik, at that time a graduating high school senior, was awarded the Sanofi Genzyme TORCH Award for his work in advocacy for individuals and families affected by ASMD. The NNPDF, in gracious acknowledgement of Evren’s wishes to endow a scholarship for other students with ASMD, supported his proposal for the financial contribution that is offered to the TORCH Award recipient’s chosen non-profit organization serving the rare disease community. Learn more.
It’s been uplifting to see the unity amongst families throughout the country over the past few months at a time when we need to support one another and rely on another the most. The NNPDF Board and Staff are here for your needs at any time in the Niemann-Pick experience helping to guide and lead and providing support, assistance, education, and more. We are always one click or phone call away.
Joslyn Crowe, MSW, MA
NNPDF Executive Director
Supporting One Another. Supporting Our Community.
Be sure to register for our virtual conference event with live interactive sessions, important advocacy and FDA updates, our Celebration of Hope video tribute, family break-out sessions, and more. We are pleased to announce Annie Kennedy, Chief of Policy and Advocacy at EveryLife Foundation for Rare Disease sharing our Keynote Address.
NNPDF Family Advisory Working Groups will take place on Thursday, July 29th, before the start of the conference.
Connect with NNPDF families, expert clinicians, researchers, and other community partners throughout the conference events. Download the NNPDF app for connecting, updates, info, contests, and more!
NNPDF Welcomes New Board Members
We are proud to welcome the following incoming Board Members to the NNPDF team: Cara Gilmore, Mary Frances Harmon, and Kari Lato. Learn more about them.
Thank You, Missy Ward
Our heartfelt THANK YOU goes out to Missy Ward as her term as NNPDF Board Member and Secretary comes to a close. Your dedication and service to the National Niemann-Pick Disease Foundation and the many families it supports has been extraordinary.
Missy and her husband Jim played an essential role in the planning and building of our family conference Activity Zone. This program would not be what it is today without them. Missy, Jim, as well as their dear friend Andy Schroeder, have been the heart of our Activity Zone and tirelessly work with dedication and unrelenting commitment to make the Activity Zone a fun and safe place for our families. We can’t thank you enough for all you do and thank you for your service to our community.
New Advocacy Committee
NNPDF is forming a new Advocacy Committee for community members who want to directly help with input and planning of advocacy initiatives. Your voice is important to getting our message out that our Niemann-Pick community needs approved medicines now. Contact firstname.lastname@example.org to get involved!
We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family for continued important notifications from the NNPDF. Thank you for your participation.
Joele Ruppert & Joseph Colton ASMD Scholarship
Joele Ruppert and Joseph Colton are a much-loved daughter and son, both diagnosed with ASMD, whose parents, Jeff and Kara Ruppert and James and Alexandra Colton, demonstrated compassion, courage, selflessness, and perseverance from the beginning to the end of their children’s journeys. The words and deeds of these two families proved inspirational to another family of a child diagnosed with ASMD, and indeed, to all who knew Joele and Joseph. This scholarship is in honor of the lives of these two cherished children and their parents who embodied the highest values of the human spirit.
The Joele Ruppert and Joseph Colton ASMD Scholarship fund began in August 2020 when Evren Ayik, at that time a graduating high school senior, was awarded the Sanofi Genzyme TORCH Award for his work in advocacy for individuals and families affected by ASMD. The NNPDF, in gracious acknowledgement of Evren’s wishes to endow a scholarship for other students with ASMD, supported his proposal for the financial contribution that is offered to the TORCH Award recipient’s chosen non-profit organization serving the rare disease community. In naming the scholarship, Evren recognized that many years earlier, he and his own family were also encouraged and inspired by the Ruppert and Colton families, and he wished to honor both of the children who lived with ASMD, Joele and Joseph, and their respective parents, all of whom are exceptional people.
JP Honsinger was diagnosed in 5th grade with NPC. On June 25th he graduated from high school with his class of 800 students! JP will attend the Adult Transition program in the fall for the next three years. Congratulations JP!
Kaila Guy, ASMD, was the Xcel Platinum Florida state gymnastics champion on Floor and came in 2nd in the all around. Kaila qualified for regionals in Atlanta, and placed 3rd on floor and in the all around. Congratulations Kaila!
Following a review of our Clinician Reported Database involved clinicians, researchers, industry representatives, the INPDR are pleased to report that we have completed the NPC database amendment with ASMD to follow soon after. The new database will be rolled out over the coming weeks to our 18 existing sites and will now include data on adverse events and co-morbidity. There are a further 47 sites that are currently in the pipeline for onboarding to the INPDR with the potential to capture data for more than 1000 patients internationally. While onboarding and recruitment has been impacted by the COVID pandemic, the registry has made important changes to accelerate recruitment. This includes facilitating postal consent so patients and families do not need to attend clinic to decide to take part in the CRD. The registry has also translated our documents into ten languages which addresses another significant barrier to registry recruitment.
Last month the registry reported progress on its Patient Reported Database review which will be extended to include a broader suite of information including quality of life, carer experience and unmet needs. We recently shared our draft questionnaires at a focus group of NPC and ASMD families to seek their input on appropriateness and acceptability. We received positive and constructive feedback and are incorporating these changes into the database review. Several important themes arose from these sessions including the provision of feedback to families who take the time to participate in the patient reported database. The INPDR will look forward to liaising with the NPD community to further consider how best to address this important question. The INPDR wish to thank all of the focus group participants for taking them time to provide their thoughtful and considered input.
The INPDR will be taking part in the forthcoming INPDA and NNPDF Meetings over the coming weeks where we look forward to providing more updates on registry progress and particularly on the patient reported database review and how the data will be used to support advocacy and research.
ASMD Market Research Opportunity
NNPDF has been asked to share the following ASMD market research interview opportunity. Evidera is seeking to conduct phone interviews with adults with ASMD to better understand the ASMD journey.
Description of study:
This ASMD adult patient study involves developing health state vignettes that describe living with ASMD. Evidera hopes to speak with adults living with ASMD (consultants) to ensure these health state vignettes accurately reflect the patient experience.
Time commitment for each consultant:
The telephone interview would last approximately 60 – 90 minutes. In some cases, Evidera may request to speak with consultants a second time after revising the health states based on their feedback. Evidera typically contract consultants for up to 3 hours to ensure their time is covered.
Payment for consultants:
All consultants would be reimbursed at a rate of $100/hour (up to three hours) for their time and consultation.
If you are interested in learning more about this market research opportunity for adults living with ASMD, please email Laurie Turner, Family Services Manager at email@example.com.
ASMD Accelerate Study
The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).
Wylder Nation Foundation has partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD.
There are two “caregiver” scenarios for enrollment:
- Those who are currently on the medical journey and caring for a child with NPA or NPA/B
For these families, participation will not only help researchers better understand the disease but will also provide them with digital access to all of their medical records in one central location and give them the ability to share records with whomever they feel necessary such as other doctors or specialists.
- Those whose child has unfortunately passed away from NPA or NPA/B
For these family’s participation is equally important to helping researchers better understand the disease and can serve as a way to carry on their child’s legacy and hopefully improve outcomes for future children diagnosed with the disease.
Enrolling in the study is easy and can be done via the study landing page. Once enrolled all you will need to do is provide a list of the doctors and/or care facilities your child has visited, and Picnic Health will do all the work of obtaining the medical records, structuring them, and uploading them to the family’s personal timeline. Click here for additional information and enrollment.
To review the recent ASMD Accelerate Study Webinar click here.
Newborn Screening Research Study
NNPDF, APRMF, NPCanada and Firefly Fund Seek Your Participation in a first-of-its-kind Newborn Screening Research Study
NPC community foundations in the US and Canada are partnering with AllStripes to create a research database that will power multiple NPC research studies and we need YOUR help to get the first important sibling study underway. This first research project with AllStripes, referred to as the sibling study, will focus on the question of whether early diagnosis and intervention for NPC result in better health outcomes and quality of life for patients. Results from this study may be used to seek a nomination for NPC to be added to newborn screening lists across the country, including the federal Recommended Uniform Screening Panel (RUSP).
We need NPC caregivers in the US, Canada and the UK that are willing to sign-on, sign-up, register, and consent to research for this important study. It will take you less than ten minutes and all data shared with researchers is de-identified, or anonymized. No identifying information is shared.
The sign-up process is EASY and fast. One parent can sign-up multiple children under his/her account. Go to: allstripes.com/NPC
- Presently, the research can only include patients living in the US, Canada, and the UK.
- Caregivers must consent to research, complete the HIPAA waiver and list at least one facility where the patient has received care.
- Patients own their data and parents will have access to their child/children’s records in a secure portal.
- There is NO cost to participate.
Questions? Contact Joslyn Crowe, NNPDF Executive Director: firstname.lastname@example.org
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 Orphazyme:
Orphazyme presented 36-month data supporting durable response to arimoclomol during Parseghian Scientific Conference for NPC research. READ MORE.
Orphazyme message to the NPC Community: “Orphazyme has just announced and is deeply disappointed to share that we have received a Complete Response Letter (CRL) from the U.S. Food and Drug Administration (FDA) following its review of the new drug application for arimoclomol for the treatment of NPC. READ MORE.
Community News Update
The sale of the Adrabetadex asset to Mandos LLC has been approved by the bankruptcy court. When more details are made available we will be sure to share them with the community in the upcoming days. Read more.
Letter from the FDA for the NPC community: We have received the following letter from the FDA for the Niemann-Pick type C community regarding expanded access to adrabetadex. Please contact email@example.com with any questions or comments. Read more.
Comprehensive Care Centers
NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!
If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at firstname.lastname@example.org.
Emergency Hardship Program
The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.
If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or email@example.com. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.
To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.
Download and complete the fillable PDF application, and return via email to Laurie Turner at firstname.lastname@example.org.
*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.
Patient AirLift Services
Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.
PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.
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.
Have you recently hosted an NNPDF fundraiser?
Send us your photos and we’ll share them and details from your event in upcoming newsletters!