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November 2019 Newsletter

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November 2019


#GivingTuesday  |  NNPDF CARES Bags
Spotlight Save the Date
NNPDF In Action  |  NNPDF Emergency Hardship Program
Clinical Trial Update  Community News
Therapeutic Update  | 
Fundraising & Awareness Events
Upcoming Events  | 
Stay Connected With Us


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#GivingTuesday

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Share the news: Giving Tuesday is December 3rd! Please consider supporting the NNPDF on this special day of giving. We are dedicated to building strong and valuable resources and programs for all families affected by Niemann-Pick Disease and we can’t do it without you!

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Family Services Launches New Program

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This month NNPDF’s Family Services program launched a new initiative to deliver NNPDF CARES bags (Caring, Assistance, Resources, Encouragement & Support) to Niemann-Pick families beginning therapeutic experiences in the U.S. The bag contains small items to make the burden of living with and caring for Niemann-Pick Disease patients a little easier during their clinic visits. It is also a way to connect families to NNPDF early in their treatment experience and better enable them to find our resources and family supports. NNPDF CARES bags will be available at clinic sites in Chicago (IL), New York (NY), Oakland (CA), Rochester (MN), and Washington DC.

This simple act of kindness is made possible by our donors.

Pictured here: Laurie Turner, NNPDF Family Services Manager visits the Illinois Medical District Guest House in Chicago and delivers NNPDF CARES bags to Joanie Vernasco, Director of Business Operations, and Adam Helman, Executive Director of the Illinois Medical District Guest House in Chicago.

 

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Dr. Melissa Wasserstein

NNPDF Scientific Advisory Board

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Melissa Wasserstein, MD is the Chief of the Division of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore and a Professor of Pediatrics and Genetics at the Albert Einstein College of Medicine (AECOM). Dr. Wasserstein received her B.S. in biology from Cornell University and her medical degree from New York University School of Medicine. She completed her pediatrics residency and medical genetics fellowship at the Mount Sinai School of Medicine, where she subsequently remained as a faculty member before moving to Einstein-Montefiore in 2016. In addition to diagnosing and managing patients with inborn errors of metabolism, Dr. Wasserstein is a clinical investigator. Her research focuses on expanding newborn screening for rare inherited disorders and evaluating novel ethical, legal and social implications of newborn screening. She is a Principal Investigator of NYCKidSeq, a multisite program studying the implementation of genomic medicine in underserved populations. She has been the Principal Investigator on numerous clinical trials evaluating novel therapeutics for rare genetic diseases.

What inspired you to begin working in the field of NPD?
I started working with the ASMD community during my training years at Mount Sinai.  Drs. McGovern and Desnick encouraged me to participate in an ongoing natural history study for patients with ASMD.  I also spent a few months during my training in Dr. Schuchman’s lab, working to help describe ASMD mutations that were present in our patients. After a few lab mishaps, I quickly learned that I prefer humans to test tubes.

How did you come to be involved w NNPDF?
I became involved with NNPDF as part of my work with ASMD families. I attended my first NNPDF conference many years ago, and I realized very quickly that with ultra rare diseases like ASMD, it’s incredibly important for families to connect with one another, and to be informed about the newest scientific and clinical developments that might impact them.  NNPDF provides these services in a way that I can’t.

What do you enjoy must about your professional role and your volunteer role with NNPDF?
I love taking care of my patients, getting to know them, and hopefully being able to help. Being part of NNPDF is a highlight, as it allows me to share my experiences with even more families.

What changes have you seen in awareness of NPD in the medical and scientific communities?
ASMD is still likely underdiagnosed, and I still find that many patients are either misdiagnosed or suffer from a long diagnostic odyssey. That said, I think that with our ongoing clinical trials, there will be more awareness and recognition of disease symptomatology within the medical community. We’re also at a stage where we’re ready to roll out newborn screening for both ASMD and NPC, which will certainly help with disease awareness.

What do you think the future of NPD looks like?
I think the near future for NPB is quite rosy. The publicly available data from our ongoing clinical trials looks great, and I feel optimistic that our NPB patients will have an effective and safe therapy in the near future. Although there’s still a long way to go before we have a treatment for NPA, there are several different approaches being evaluated, and I’m cautiously optimistic that we’ll have something to offer our NPA families in the future.

Dr Wasserstein was the 2019 recipient of the NNPDF Persevere Award. Pictured here: Dr. Justin Hopkin, Board Chair, presents Dr. Wasserstein with the NNPDF Persevere Award at the annual Family Support & Medical Conference

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Save the Date!

NNPDF Family Support & Medical Conference

Plans are well underway for the 2020 Family Support and Medical Conference! Conference program dates are July 9 – 11, 2020 in San Antonio, Texas, with a SPECIAL EVENT you don’t want to miss on Sunday, July 12th.

Sunday, July 12th, the NNPDF is planning a Family Fun Day at Morgan’s Wonderland, Ultra-Accessible Theme Park. This is a time for families and friends to gather and HAVE FUN in a worry free environment. Morgan’s Wonderland was designed with special-needs individuals in mind and built for everyone’s enjoyment. Morgan’s Wonderland offers 25 ultra-accessible™ attractions, sprawled across a 25-acre oasis of inclusion. From a wheelchair-accessible Ferris wheel to catch-and-release fishing, there is truly something for everyone to enjoy!

More details will be provided shortly. In the meantime, please include Sunday, July 12th in your family conference travel plans! Click here to learn more about Morgan’s Wonderland and all is has to offer.

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NNPDF In Action

NNPDF was onsite in Chicago to visit families at Rush University Medical Center and to meet with leadership of the Illinois Medical District Guesthouse. The team was able to experience a clinic day with several families and to deliver NNPDF CARES bags as part of NNPDF’s new Family Services program.

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NNPDF 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 familyservices@nnpdf.orgApplications 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 $750 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.

Click her to apply.

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.

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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 Cyclo Therapeutics:
Cyclo Therapeutics signs agreement with Worldwide Clinical Trials to conduct pivotal trial in Niemann-Pick Disease Type C. Click here for complete announcement.

Cyclo Therapeutics announces its publication of the most extensive set of case study reports to-date on expanded access use of Hydroxypropyl Beta Cyclodextrin in Niemann-Pick Disease Type C. Click here for complete announcement.

Update from IntraBio:
IntraBio IB1001-201 Clinical Trial for NPC reaches 2/3 of their recruitment goal. Click here for complete announcement.

Update from Mallinckrodt Pharmaceuticals:
Mallinckrodt shares a message to NPC Community: Update on VTS-270. Click here for complete message.

Update from Orphazyme:
Orphazyme receives Breakthrough Therapy Designation for arimoclomol in Niemann-Pick Disease Type C (NPC). Click here for complete announcement.

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Community News

In a recent article in the BMC Medicine, NNPDF Scientific Advisory Board Chair Dr. Andrew Lieberman Co-Authors research on “Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases”. Click here to read more.

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Therapeutic Update

Evox Therapeutics, based in Oxford, UK, is advancing a pipeline of exosome-based therapeutics for a variety of rare diseases, including Niemann Pick Type C. Exosomes are a natural vesicular system the body uses to deliver and transfer materials between cells. Evox is engineering these vesicles to contain NPC1 protein and their deliver to cells has been shown in pre-clinical studies to restore NPC function. This NPC exosome program is advancing towards clinical studies in the next couple of years.

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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.

Facebook Fundraisers

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 nnpdf@nnpdf.org to let us know.

Fundraiser in Honor of Caleb Woodard

The family of Caleb Woodard recently hosted their 5th Annual Crab Cakes for Caleb Fundraiser at Stoney’s Seafood House in Prince Frederick Maryland. Friends and family attended with a portion of the sales donated to the NNPDF to support the fight against Niemann-Pick Disease.

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Yankee Candle Fundraiser

Yankee Candle Online Fundraiser in memory of Bryanna Desouza and in honor of all Niemann-Pick Disease families started July 11th and runs through January 8, 2020. Click here for complete details.

Bryanna Desouza (Jan 20, 1992 – Dec 5, 2006) NPC.

 

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Jamberry Niemann-Pick Disease Nail Wraps

Show your support in the fight against Niemann-Pick Disease with these custom Jamberry nail wraps. 30% of all sales will be donated to the National Niemann-Pick Disease Foundation for family support services. Click here for ordering details. Available year round.

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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!

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Check out our Upcoming Events page at
nnpdf.org/news-media/upcoming-events/.

#GivingTuesday
Tuesday, December 3

NNPDF Industry Update Webinar Series
Dates coming soon!
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Rare Disease Day
February 28 | Watch for details!
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NNPDF Family Support & Medical Conference 2020
July 9-12 | San Antonio, Texas

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Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

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