March 2022 Newsletter
APPROVAL! | Message from Board Chair | 2022 Family Support & Medical Conference
Family Advisory Working Groups | Family Conference Scholarships
NNPDF Cora Sterling Endurance Award | Joele Ruppert & Joseph Colton ASMD Scholarship
NNPDF Research Fellowship Applications | Family Journey with Ashley Lewis
INPDA Letter to CHMP Members | Rare Difference Maker
In the Spotlight | Fundraising | BENEFIT Act of 2021 | Surveys & Studies
Clinical Trial Updates | Community News Updates | Membership
Emergency Hardship Program | Upcoming Events
We are pleased to share the important news from Sanofi that the ASMD community now has its first and only approved treatment option available for ASMD! Sanofi’s Xenpozyme (olipudase alfa) is now approved in Japan for the treatment of children and adults with non-CNS manifestations of ASMD.
John Reed, MD, PhD, Executive Vice President, Global Head of Research and Development of Sanofi expressed that “today’s approval of Xenpozyme is a watershed moment for ASMD patients and their families, representing 20 years of research and the shared efforts of advocacy partners, clinicians, and patients. As the world’s first medicine approved for ASMD, Xenpozyme offers a potentially transformative option for this historically neglected community.”
NNPDF joins the entire community in celebrating this historic win! Read complete press release.
Message from the Board Chair
This has been a historical week for the ASMD community. On March 28, Sanofi announced that olipudase alfa was approved in Japan for the treatment of pediatric and adult patients with ASMD! This is the first and only approved therapy for ASMD patients in the world! It took a village to help us reach this amazing milestone!
Key contributors include Dr. Edward Schuchman who identified the gene encoding, the enzyme involved in ASMD. He also developed the mouse model for ASMD and the first genetic screening test for ASMD. In addition, he pioneered enzyme replacement therapy for ASMD and collaborated with Sanofi to help bring olipudase to clinical trials. Thank you, Dr. Schuchman!
Our deepest appreciation for all the clinicians, genetic counselors, nurses and professionals that carried out the olipudase alfa trials. The clinical leaders at trial sites around the world included Simon Jones, Maurizio Scarpa, Karl Mengal, Robert Giugliani, Nathalie Guffon, Antonio Barbato and Isabele Batsu. Here in the U.S., we are especially grateful for Drs. Renata Gallagher, George Diaz, and Melissa Wasserstein, along with their amazing clinical teams, for their tireless efforts in not only leading these clinical trials but for providing great care for all our patients. We are so appreciative for your time, your effort, your passion and your leadership.
We would also like to thank all the patients and families who participated in the olipudase clinical trials. In the beginning, it was the original 5 adults who have now all continued to be part of the clinical trial for almost a decade! They have donated hours, days, weeks and years to the community. Through their efforts, we understand the persistent benefit of olidpudase can be seen years after starting therapy. Our appreciation to the pediatric patients and families who have also been involved in the clinical trial for up to 7 years. Lastly, a heartfelt thanks to all the adults who enrolled in the ASCEND trial, a year long trial that required travel to an approved site every two weeks for a year with a 50/50 chance of receiving placebo during the study period. In an ultra rare disease with a limited number of patients, each trial participant’s data, including the placebo data, is critical in demonstrating the benefit of this therapy. Thanks to all!!!
We appreciate Sanofi’s work in the rare disease space and commitment to providing the first approved therapy for all Nieman-Pick patients. We understand that an approval in Japan does not translate to approvals elsewhere. However, it is a tremendous first step in our goal of allowing all patients with ASMD to have the opportunity to receive an approved therapy. NNPDF will continue to advocate for approval in the U.S. and around the world. Thank you all for supporting the advocacy work we do and supporting the NNPDF. Let’s work together to push this approval across the finish line in the coming months.
Read the complete press release.
With Warm Regards,
Justin Hopkin, MD
NNPDF Board Chair
NNPDF Family Support & Medical Conference
in Conjunction with INPDA Biennial Meeting
JOINT CONFERENCE DATES: July 28 – August 1, 2022
NNPDF: July 28 – 30 | INPDA: July 29 – August 1
Wyndham Grand Orlando Resort Bonnet Creek | Orlando, Florida
Conference Registration | Hotel Reservations | Conference Information
NNPDF Family Advisory Working Groups
The National Niemann-Pick Disease Foundation, Inc. (NNPDF) will host Family Advisory Working Groups that will take place on Thursday, July 28, 2022 from 1:00 pm – 4:00 pm EST at the Wyndham Grand Hotel, Orlando. This is an optional event that will take place prior to the start of our Family Support & Medical Conference. Pre-registration is required.
Family Advisory Working Groups will provide Industry partners the opportunity to connect privately with a group of 6-10 Niemann-Pick Type C or ASMD patients and/or immediate family members for a 3-hour session. Due to limited space, there is a limit of 2 participants per family. Participants must be adults living in the United States. Participants are eligible for a $350 stipend per participant and 1-night hotel included per family (night of July 27th). Application deadline is May 16th.
Family Conference Scholarships
Scholarship assistance is available to NNPDF registered US families attending the NNPDF Family Support and Medical Conference in Orlando, Florida from July 28 – 30, 2022.
Assistance is available to help NNPDF families living in the US, who are experiencing financial need to help offset the cost of attending the 2022 Family Support and Medical Conference. Family Conference Scholarships are limited to immediate family members of an individual with NPD. The NNPDF Family Conference Scholarship will provide up to three (3) nights hotel (room and tax only*) to eligible applicants. Application deadline is May 16th.
NNPDF Cora Sterling Endurance Award
Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community. Nomination deadline is May 31st.
Joele Ruppert & Joseph Colton ASMD Scholarship
Joele Ruppert and Joseph Colton are a much-loved daughter and son, both diagnosed with ASMD. This scholarship has been created in honor of the lives of these two cherished children and their parents who embodied the highest values of the human spirit. Read complete story and learn more about this scholarship opportunity. Application deadline is May 15th.
NNPDF Research Fellowship Applications
NNPDF is accepting Research Fellowship 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 20 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. Application deadline is June 1st.
Contact firstname.lastname@example.org with questions.
Family Journey with Ashley Lewis
During our 2021 NNPDF Family Support & Medical Conference we were honored to have Niemann-Pick community members share their Niemann-Pick stories with us.
Today we feature Ashley Lewis, Mom of Linwood, sharing her family story of living with ASMD. Thank you, Ashley for sharing your personal story with us. Watch Ashley’s family journey.
INPDA Letter to CHMP Members
The International Niemann-Pick Disease Alliance (INPDA) sent the following letter in support of Orphazyme’s candidate in NPC to the Committee for Medicinal Products for Human Use (CHMP) members at the European Medicines Agency (EMA) in advance of the recent review of Arimoclomol.
THANK YOU to the nearly 500 family members from around the world who signed their support as well! Read the letter.
Rare Difference Maker
NNPDF’s Joslyn Crowe and Laurie Turner were recently featured in Engage Health’s Rare Disease Difference Maker project. This project was created to recognize researchers, physicians, organization leaders, patients, parents, teachers, friends, and many others who have contributed immensely to the rare disease space. Read their story.
João Paulo De Souza
Sr. Program Manager, AllStripes
Tell us a bit about yourself, such as where do you live and what do you enjoy doing?
My name is João Paulo – I know, it’s a bit of a tongue twister, but most people call me JP. I’m a Bay Area native who returned after living in San Luis Obispo, California. From an early age, I knew I wanted to help people. After graduating from the University of California, Berkeley, most of my work has been in a variety of clinical and biotech settings: from creating treatment plans for children with varying developmental disorders to using AI for blood diagnostics.
These days, I’m a Sr. Program Manager at AllStripes, where our mission is to unlock new treatments for people affected by rare disease. I’m fortunate to work alongside many dedicated and talented individuals working toward the same mission, and seeing amazing work being done for communities like NPC. During my free time, I take advantage of the many hikes and parks the Bay Area has to offer with my best friend Samson, my 4-year-old Goldendoodle. I love to experience different cultures through travel, and of course, using my taste buds.
What caused you to get involved in the Niemann-Pick community?
The NPC Sibling Study was one of the first projects I started helping with when I joined the team here at AllStripes. Since then, I’ve had the privilege of working closely with NNPDF, Firefly Fund, Niemann-Pick Canada, and the Ara Parseghian Medical Research Fund. Our work has allowed me to connect with members of the community and hear such unique and powerful stories, which continue to drive me each and every day.
How does the NPC Sibling Study support early NPC intervention?
The intent of the Sibling Study is to provide evidence to support the inclusion of NPC in newborn screening (NBS) programs. Achieving this will allow physicians to diagnose babies with NPC early, which will allow for early intervention. Early intervention may increase the effectiveness of treatments and improve quality of life. Getting NPC added to newborn screening panels would be a huge accomplishment and success for the community!
Why are sibling pairs needed for this research?
In short, the Sibling Study is attempting to show the effects of early intervention. How will this research project do this? When two siblings have the same diagnosis and one sibling had intervention earlier than the other, researchers can determine whether intervening early leads to slower symptom onset and/or decreased severity of symptoms.
Why is data from families whose loved ones have passed important to the study?
While there’s currently no cure for NPC, there have been advancements in treating it. Some of these advancements are recent enough that, in some cases, people who have died from NPC did not have the chance to be treated with disease-specific therapies. Comparing medical records from deceased patients to medical records from living patients can help provide evidence that early diagnosis and intervention makes a real difference. This means the records of loved ones who have passed away from NPC are especially helpful for researchers trying to build evidence for adding NPC to newborn screening.
What are your hopes for the future of the Niemann-Pick community?
My hope is that our work with the NPC community can support the addition of NPC to newborn screening panels. Beyond that, our goal is to unlock new treatments for the NPC community. There are many like me who are working toward this goal, and the Sibling Study is just the first study we hope to work on for the NPC community.
How can families get involved?
To join other patients and families on AllStripes go to allstripes.com/npc.
If anyone has any questions about the study of AllStripes, please feel free to email email@example.com.
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.
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!
THANK YOU to the Brighton Basketball community who recently held a Super Bowl Square Fundraiser to help raise awareness of Niemann-Pick disease and funds for the NNPDF.
“This foundation is important for our community as we look forward to supporting Garrett Hopkin and his family. Garrett lives with Nieman-Pick Disease and is our biggest fan! He is a current student at FRES and has siblings in both the boys (Grady) and girls (Avery) basketball programs.”
THANK YOU to Dawn Cooley, Carol Anderson, Jennifer Gregory, Mari Lombardo Sanetra, and Kayla Miller Smith who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!
Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!
BENEFIT Act of 2021
NNPDF recently signed on to a letter to US Senators and Representatives in support of the BENEFIT Act of 2021. The Better Empowerment Now to Enhance Framework and Improve Treatments Act of 2021 (BENEFIT Act of 2021) is a bill that requires the US Food and Drug Administration (FDA) to consider relevant patient-focused drug development data, such as data from patient preference studies and patient-reported outcome data, in the risk-benefit assessment framework used in the process for approving new drugs. Read the letter.
Surveys, Studies & Market Research
Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Current surveys and studies are listed below. Contact Laurie Turner at firstname.lastname@example.org for any questions.
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.
Update from Sanofi:
We are pleased to share an important update from Sanofi: Xenpozyme® (olipudase alfa) APPROVED in Japan, first and only approved therapy indicated to treat acid sphingomyelinase deficiency (ASMD). Read the press release.
Update from Orphazyme:
NNPDF has received the following communication from Orphazyme regarding this week’s press release on arimoclomol programs for NPC. Read the letter and press release.
Community News Updates
Announcement from Azafaros:
Azafaros announces FDA Grant of Orphan Drug Designation for AZ-3102 in the treatment of Niemann-Pick Disease type C. Read complete announcement.
INPDA Letter on Arimoclomol to CHMP Members
The International Niemann-Pick Disease Alliance (INPDA) sent the following letter to the CHMP members at the European Medicines Agency (EMA) in advance of the upcoming review of Arimoclomol. Thank you to the nearly 500 family members from around the world who signed their support as well! Read the letter.
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
Click here to update or enroll today!
For assistance contact Laurie at email@example.com or call 920-542-4038
Emergency Hardship Program
The NNPDF Emergency Hardship Program continues to offer assistance 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. Click here for complete details and eligibility information.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or firstname.lastname@example.org if you have any questions about this program.