March 2019 Newsletter
Message from the Executive Director | Family Support & Medical Conference
Industry Update Webinar Series | ASMD Update | PFDD
Newborn Screening | Clinical Trial Updates
Community News Update | In the Spotlight
INPDR | Upcoming Events | Stay Connected With Us
Dear Friends and Families,
Where I live, signs of Spring are everywhere. The weather is warmer, birds chirp in the mornings again, the sun sets later, and the tiniest signs of blooms on the trees are appearing. I love the positivity and renewal that spring brings. At the NNPDF office we are busy developing several new initiatives that will continue to grow our family services and supports. We are also eagerly planning for our Family Support and Medical Conference which will be held in Bloomington, Minnesota this August 15-18th. No city could sound more in sync with springtime than Bloomington! We are all greatly looking forward to seeing everyone and to coming together for a few days of scientific updates and breakout sessions for families.
This year we will also hold Working Groups on August 15th from 10:00 am – 3:00 pm, prior to the official start of the Conference that evening. The Working Groups are an opportunity for community members to share their insights and experience with our Industry partners in small-group, structured sessions. These Working Groups are optional and will take place before the Conference begins. Stipends will be available for participants which may be used in combination with our Helping Hand stipend. Childcare will be provided in our Activity Zone during the Working Group sessions. Further details will be available soon and space will be limited, so be sure to watch for an opportunity to participate.
This month, NNPDF was a collaborating organization at the externally-led Patient Focused Drug Development meeting held outside of Washington DC. The meeting brought together NPC patients, their caregivers, and advocates gathering in a structured meeting to provide the FDA, drug developers, and NPC stakeholders with perspectives from the NPC community on a number of important issues.
With advocacy and family support central to our mission, NNPDF was proud to be part of this patient community initiative led by the Ara Parseghian Medical Research Fund. We are thankful to the FDA officials in attendance for listening to our community members, we hope that this has enhanced the understanding of the impact that Niemann-Pick disease has on the daily lives of patients and families. We are deeply thankful to the brave panelists who shared their personal stories of their journey with Niemann-Pick. We heard first-hand experiences from newly diagnosed families confronted by the horrendous new reality of a rare disease with no cure, across the spectrum to families struggling with the daily challenges of life with a severely compromised loved one, and, unfortunately, stories from those now in need of support for grief and loss.
Our mission at NNPDF is to provide psycho-social family supports, resources, and unbiased information on all potential treatments and investigational therapies. We dream of a day, hopefully on the near horizon, where the diagnosis of Niemann-Pick disease has hope and promise that science and medicine can deliver and, with your support, we persevere in our efforts to support the growing needs of the community.
Joslyn Crowe, MSW, MA
NNPDF Executive Director
The NNPDF Family Support and Medical Conference registration will be opening soon! In the meantime, check out all the exciting things to see and do in Bloomington. Spend some time at the iconic Mall of America or the Minnesota Valley Wildlife Refuge. Visit bloomingtonmn.org for more information!
This year we will also hold Working Groups on August 15th from 10:00 am – 3:00 pm, prior to the official start of the Conference that evening. The Working Groups are an opportunity for community members to share their insights and experience with our Industry partners in small-group, structured sessions. These Working Groups are optional and will take place before the Conference begins. Stipends will be available for participants which may be used in combination with our Helping Hand stipend. Childcare will be provided in our Activity Zone during the Working Group sessions. Further details will be available soon and space will be limited, so be sure to watch for an opportunity to participate. Contact email@example.com with any questions.
NNPDF launched its new Industry Update Webinar Series this month. These webinars allow each of our Industry partners the opportunity to present their latest updates in a unique 1-hour webinar forum directly to the U.S. Niemann-Pick Disease community. Thank you to Orphazyme, CTD Holdings Inc., and Mallinckrodt Pharmaceuticals for your participation this month.
Did you watch the webinars live but want to see it again? Or did you miss the live viewing? Recordings of the presentations are on our website at: nnpdf.org/news-media/nnpdf-webinars/.
The Q&A is not recorded so make sure to register for the upcoming NNPDF Industry Updates in the series and watch it live! Upcoming events in the series include Sanofi Genzyme, IntraBio, and the National Institutes of Health (NIH)!
NNPDF Industry Update webinars have also been shared with the international Niemann-Pick Disease community via the International Niemann-Pick Disease Alliance (INPDA). The NNPDF is the U.S. member organization of the INPDA.
Click here to register for upcoming events in this series or to view previous recordings.
NNPDF community member Jeff Bebout was born with an enlarged spleen and liver and it wasn’t until the age of three that he was diagnosed with Acid Sphingomyelinase Deficiency (ASMD). In the following video Jeff describes what it is like to live with ASMD. He shares how the disease has impacted his life and life decisions, highlighting both the physical and emotional challenges that he faces as a result of having a rare disease. To watch the video follow this link: https://goo.gl/4qr8ig.
Don’t miss Sanofi Genzyme’s presentation in our NNPDF Industry Update Webinar Series on April 3rd at 8:00 pm ET/5:00 pm PT. Register now!
NNPDF was a collaborating organization committee member of the externally-led Patient Focused Drug Development meeting that took place outside of Washington DC on March 18th. Patient-Focused Drug Development (PFDD) is a new initiative from the Food and Drug Administration (FDA) intended to bring patient perspectives into an earlier stage of product development. The goal is that patients and their caregivers will be able to voice their perspectives, experiences, needs, and priorities on specific diseases and their treatments.
The meeting brought together NPC patients, their caregivers, and advocates in a structured meeting to provide the FDA, drug developers, and NPC stakeholders with perspectives from the NPC community on a number of important issues.
The meeting was simulcast live and the recording can be viewed online. A Voice of the Patient report will be published in the coming weeks with important community learnings.
With advocacy and family support central to our mission, NNPDF was proud to be part of this patient community initiative led by the Ara Parseghian Medical Research Fund.
Justin Hopkin, NNPDF Board Chair, Joslyn Crowe, Executive Director, and Laurie Turner, Family Services Manager, attended the PFDD Meeting in Maryland. Pictured here: Justin Hopkin, MD.
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.
Update from IntraBio:
IntraBio Clinical Trial Authorization Application Approved by the MHRA for the Treatment of NPC. Click here for complete announcement.
Update from National Institutes of Health:
National Institutes of Health Announces Clinical Trial to Evaluate Combined IT/IV Administration of VTS-270. 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.
NIH shares Survival Data in NPC Natural History Study
The National Institutes of Health “Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history” has just been released. Click here for complete announcement.
NNPDF Board Member
Mother of Adam (1990 – 2000) and Amanda (1994 – 2004) NPC
Tell us a bit about yourself, such as where do you live and what do you enjoy doing. My husband, Jim, and I live in Metairie, Louisiana, a suburb of New Orleans. I enjoy reading, crossword puzzles, and anything relaxing. Jim and I both love to go dancing, and are looking forward to doing so at our daughter, Chelsea’s wedding, which will occur this May. Chelsea is our middle child, the only one born NPC free.
When did receive your diagnosis? What led you to diagnosis? Our youngest child, Amanda, was actually diagnosed before her older brother Adam. Amanda was born with an enlarged liver and spleen. After several tests, the doctors did an open biopsy and discovered she had biliary atresia (the lack of bile ducts). She was put on a transplant list and was flown to Children’s Medical Center of Dallas when she was eight weeks old. Three weeks later, she received a new liver. They also needed to remove her spleen. As they were examining her removed organs, they discovered both Cystic Fibrosis as well as a storage disease they could not yet name. Further testing, and months later, we received her diagnosis. She was eleven months old. (This was in October of 1995.) In the meantime, her brother had begun kindergarten but was failing to keep up. We thought at first he just had a learning disorder. We enrolled him in the local public school so he could receive special services and attention. However, as the school year progressed, he did not. He began falling down and having bathroom accidents. Eventually we were convinced to have him tested, too, over the summer between kindergarten and first grade. While awaiting his results, he had his first seizure. His diagnosis came in October of 1996.
What were the first steps you took after diagnosis? The geneticist we were hooked up with gave us one journal article on NPC, and we did not like what we read. We bought a home computer so I could begin an internet search. Actually, I was inspired by the movie Lorenzo’s Oil to try and find some answers of our own. It did not take long for me to realize this was not going to happen, and that if we were to have any hope we needed to reach out to the researchers and others in the NPC community.
How did you learn about NNPDF? Originally I found out about the Parseghians, and reached out to Cindy. Soon afterwards we were contacted by a family in Arkansas whose son had NPC. This mom told us about the NNPDF and the Family Conference.
What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family? The first Family Conference that occurred after Adam’s diagnosis was in July of 1997. Unfortunately, it was the same weekend as my brother’s wedding (see attached photo of us at the wedding). Jim’s sister, Janet Pease, and her husband, Doug, attended in our stead and came back with a wealth of information. They had also volunteered their services to set up the first NNPDF website. We attended the Family Conference the following year. Meeting families who actually knew what we were going through was life-changing.
What changes have you seen in the Niemann-Pick environment over the past 5 years? As a Board member, I have seen up close and personal the restructuring process for this organization. I have witnessed a newfound commitment to helping families through the process, from the diagnosis to the possible clinical trials, and helping to connect the families through social media, equipment exchange, webinars, and of course the Family Conference.
What are your hopes for the future for yourself and for the Niemann-Pick community? I long for the day when an announcement is made that a cure has been found, and that no child will have to suffer, nor will we lose another child to this horrible disease. That is definitely a Family Conference I want to attend!
The INPDR is a disease-specific registry owned and managed by the International Niemann-Pick Disease Alliance (INPDA) with support from professional partners involved in the care of patients affected by all types of Niemann-Pick disease (ASMD and NPC). The INPDR is a collaboration between clinicians, scientists, researchers and patient associations across the world to collect clinical, genetic, diagnostic and outcome data from patients with Niemann-Pick Diseases (NPD).
The INPDR is a unifying force that has the power to increase knowledge and understanding of Niemann-Pick Diseases (NPD) through the collection of much-needed patient data on a global scale. By enabling appropriate access to anonymized data, the INPDR will encourage efficient and timely diagnosis, improve understanding of disease progression and influence patient care, whilst supporting global research efforts. The active participation of patients from around the world will provide robust data on this rare disease, facilitating the development and recruitment of future clinical studies and supporting access to new and emerging therapies.
Registration is quick and easy! For step-by–step instructions, click here!
Check out our Upcoming Events page at nnpdf.org/news-media/upcoming-events/
Industry Updates Webinar Series: Featuring Sanofi Genzyme
Wednesday, April 3, 2019
8:00 pm EST/5:00 pm PST via Zoom video
CLICK HERE for registration information.
Industry Updates Webinar Series: Featuring IntraBio
Wednesday, April 17, 2019
12:00 pm EST/9:00 am PST via Zoom video**
CLICK HERE for registration information.
**Please note this webinar takes place at 12:00 pm ET/9:00 am PT as all speakers are based in the UK
NNPDF Family Support & Medical Conference
August 15 – 18, 2019
Click here for information – Registration opening soon!
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