June 2021
Keeping our families healthy is always a top priority. COVID19 has made this tougher than ever.
We know that many of our families are facing challenges right now and NNPDF is here for you – we are here to help, to talk, to help find resources for your family, or just to listen.
We’ve added more Family Services programs with more ways to connect, share, and learn for families at all stages of the Niemann-Pick journey, and we’re helping community members through our Emergency Hardship Program.
NNPDF is grateful to all our supporters for their gifts. Your support is needed now more than ever. If you’d like to help us to continue to serve the needs of our families, we appreciate your generosity and commitment.
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 
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 
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.
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.
The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).
NNPDF, APRMF, NPCanada and Firefly Fund Seek Your Participation in a first-of-its-kind Newborn Screening Research Study
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 
Adrabetadex Update:
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. 
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.
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.
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.