NPC & ASMD Clinical Trial & Research Updates

Dear NNPDF Families and Friends,

In tandem with World Rare Disease Day 2015 and in support of our NPD families WORLD-WIDE, the National Niemann-Pick Disease Foundation (NNPDF) is pleased to share the most recent research and clinical trip updates within the Niemann-Pick Disease Community. 

The update includes: Cyclodextrin (NPC Pediatric), Vorinostat (NPC Adult) & Enzyme Replacement Therapy (ASMD ~ pediatrics)

The NNPDF also received notification of a recent on-line publication highlighting the work of Charles Vite, Ph.D, and the invaluable work that he has been doing with the naturally-occurring Niemann-Pick Type C felines at the University of Pennsylvania ~ School of Veterinary Medicine.

Visit the NNPDF Newsline to see all the latest clinical trial and research updates detailed above: http://www.nnpdf.org/Newsline2015.html#Feb2715

23rd Annual NNPDF Family Support and Medical Conference

Dear NNPDF Families and Friends,

In support of World Rare Disease Day and our Niemann-Pick Disease Community ~ the NNPDF is pleased to announce the site location of our 23rd Annual Family Support and Medical Conference to be held in Chicago, Illinois in late July, early August!

For additional details, please click here to see our e-Newsletter: http://www.graphicmail.com/new/viewnewsletter2.aspx?SiteID=4117&SID=0&NewsletterID=1234278

Be Creative on World Rare Disease Day!

Dear NNPDF Families and Friends,

Here is a creative way to help raise awareness for Rare Disease Day in honor your rare NPD loved ones! If you decide to participate, we would love for you to share it with the NNPDF Staff Facebook page on the NPD Awareness Facebook page or on our Twitter page with the hashtag #NNPDF 

Be creative and join the NNPDF and NORD for WORLD Rare Disease Day 2015!

Reminder ~ Today ~ Chat with NIH Via Twitter About Rare Diseases!

Dear NNPDF Families and Friends,

Just a reminder that the National Institutes of Health will be having their Twitter chat today with leading experts in the field, including NIH Director Dr. Francis Collins and NCATS Medical Consultant, Dr. John Ferguson. 

Check below for your local time:

2:30-3:30 pm (EST) 

1:30-2:30pm (CST)

12:30-1:30pm (MST) 

11:30am-12:30pm (PST)

You can sign up for a Twitter account at www.twitter.com if you don't already have one. To join the discussion, you'll need to post a question to your Twitter page, using the hashtag #NIHchat with it.  This will alert the hosts of this NIH chat to view your question and they will tag you back in their response.

Here is the NIH page showing their past Q&A sessions to give you a better idea of how they do it: http://www.nimh.nih.gov/health/twitter-chats/index.shtml

If anyone has any questions regarding the Twitter chat today, feel free to contact the NNPDF Offices here on Facebook, by phone (920-563-0930) or via e-mail: nnpdfoffice@idcnet.com

Community Connection ~ NIH with Rare Disease Community Via Twitter

Dear NNPDF Families and Friends,

Join the National Institutes of Health (NIH) on February 25, 2015 from 2:30-3:30 pm (EST) (1:30-2:30pm (CST), 12:30-1:30pm (MST) & 11:30am-12:30pm (PST)) on Twitter to raise awareness for rare diseases and talk to leading experts in the field, including NIH Director Dr. Francis Collins and NCATS Medical Consultant, Dr. John Ferguson. You must have an active Twitter account to participate in this hour long Q&A with the leaders of the NIH.

To join the conversation, log in to your Twitter account, at the above date and time, and use #NIHchat along with your question to receive a reply.

World Rare Disease Day ~ NNPDF - A Historical Snapshot

Dear NNPDF Families & Friends,

With the coming of Rare Disease Day 2015, the National Niemann-Pick Disease Foundation and its community are taking the time to reflect on our long history of Perseverance and all the things we've been able to accomplish with the continued support of families and friends over the years.

The NNPDF was lucky enough to be featured in a recent issue of the Lysosomal Disease Network (LDN) monthly online newsletter, “INDICATIONS”. This detailed history covers the work of the Foundation as a it relates to who we are, what we do and just how far we have come since the foundation was established in 1992!

The article was written by Evelyn Redtree, writer & editor of the LDN 'Indications' newsletter. Evelyn interviewed key NNPDF staff, Board of Director's, researchers and scientists to create a complete history behind the foundation, the research goals you, our community, have helped us reach!

Visit the NNPDF Foundation History page to view the article: http://www.nnpdf.org/aboutus_12.html

NNPDF e-Newsletter ~ February 2015

Dear NNPDF Families and Friends,

The NNPDF February 2015 e-Newsletter is available! Highlights include:

•  Rare Disease Day ~ 2015 
•  WORLD Symposium 2015 
•  Expanded Access of Compassionate Use
•  Webinar ~ Young Adult Patients Transition to Medicare
•  $100,000 Online Challenge for NPC Research ~ Round 3
•  2015 NNPDF Annual Board Meeting 

Click here to view the NNPDF February 2015 e-Newsletter: http://www.graphicmail.com/new/viewnewsletter2.aspx?SiteID=4117&SID=0&NewsletterID=1279162

NPC (Niemann-Pick Type C) Updates from the 2015 WORLD Symposium

Dear NNPDF Families and Friends,

Members of the National Niemann-Pick Disease Foundation (NNPDF), Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF), International Niemann-Pick Disease Alliance (INPDA) and the International NNPDF Scientific Advisory Board attended the WORLD Symposium in Orlando, Florida ~ Tuesday, Feb 10th ~ Thursday, Feb 12th, 2015. The attendees filled a variety of roles tied to our patient advocacy membership representation, presentations of research and keynote speakers for symposiums addressing the next generation of lysosomal disorders: Treatment, Biomarkers and Talent needed to succeed in the Future. 

Today we're highlighting all the NPC research presented at the WORLD Symposium last week, including an update from NNPDF funded grant fellow - Dr. Charles Vite.

To see all the Niemann-Pick related research presented at the conference, visit the NNPDF WORLD Symposium web page: http://www.nnpdf.org/WORLDSymposium.html

ASMD (Niemann-Pick Disease Type A/B & B) Updates from the 2015 WORLD Symposium

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation is excited to share with our NPD community family membership research updates presented at the 2015 WORLD Symposium on Lysosomal Disease Research under the direction of: Dr. Melissa Wasserstein M.D. & Dr. Beth Thurberg, MD, PhD, of Genzyme, a Sanofi Company. This research is in support of Genzyme’s ongoing efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

Visit the Enzyme Replacement Therapy page to view:

- Genzyme Press Release ~ Dateline 02/12/2015

- Related video interview with Dr. Beth Thurnberg

- Dr. Wasserstein & Dr. Thurnberg's presentation abstracts

The NNPDF and all of the members of our ASMD family community wish to extend a HUGE note of thanks to the 5 Phase 1B clinical trial participants in and taking on this brave effort which involved extreme commitment of time, travel, work and family involvement in support of the wider ASMD (NPD Type B) community and patients worldwide.


We will continue to bring you the latest research from the Symposium floor as it is made available to us. In the meantime, you can read all the abstract research on the NNPDF WORLD Symposium web page: http://www.nnpdf.org/WORLDSymposium.html

ASMD & NPC Research Presentation Abstracts from the 11th Annual WORLD Symposium

Dear NNPDF Families and Friends,

Members of the NNPDF, CCNNPDF, INPDA and the International NNPDF Scientific Advisory Board are currently in attendance at the WORLD (We’re Organizing Research for Lysosomal Diseases) in Orlando, Florida ~ Tuesday, Feb 10th ~ Thursday, Feb 12th, 2015. The attendees are filling a variety of roles tied to our patient advocacy membership representation, presentations of research and keynote speakers for symposiums addressing the next generation of lysosomal disorders: Treatment, Biomarkers and Talent needed to succeed in the Future.

The goal of the WORLD (We're Organizing Research for Lysosomal Diseases) symposium is to provide a forum to discuss the challenges to research and development of treatments for patients with rare diseases, and to identify opportunities to support the advancement of therapeutic options. Clinicians and researchers who work with lysosomal diseases will have the opportunity to learn about the progression of research and therapy approval processes for a variety of different diagnoses and therapies via face-to-face lectures and in-depth discussion with a panel of experts. This symposium is designed to help patient advocates, scientists, clinicians and other health care professionals identify what resources and actions will be needed to move lysosomal disease research forward. 

To view those in attendance, as well as, the latest updates and abstracts regarding NPC & ASMD, visit the NNPDF WORLD Symposium web page: http://www.nnpdf.org/WORLDSymposium.html

Earn $100,000 for NPC Research~ Vote to Keep Matt Painter in 1st Place ~ Infiniti Coaches Charity Challenge

Dear NNPDF Families and Friends,

Did you know that Coach Matt Painter, representing the Smith Family BReaKthru Fund in the Infiniti Coaches' Charity Challenge, has been ranked in 1st since round 2 began?

It's thanks to everyone who continues to vote for him daily that he is on the leader board.  But let's not let that momentum dwindle! Remember, that with your help, NPC research could earn the $100,000 grand prize!

Keep voting daily and let's vote Coach Painter into round 3 with a first place ranking between now and February 15th!

www.votemattpainter.com

We will Persevere in our Quest for a Cure!

Isaiah "Zay" Adkins 01/24/2004 ~ 02/05/2015

Dear NNPDF Families and Friends,

We have the heartbreaking task of informing our foundation membership that Isaiah Adkins, known lovingly by his family as Zay, lost his battle with Niemann-Pick type C on February 5th, 2015 at the tender age of 11 years. 

Zay will always be remembered as a treasured son, and a beloved sibling who was always ready with a sweet smile for anyone who had the pleasure to know him in his short time with us. 

His mother, Angela Tackett, writes adoringly about Zay and shared these thoughts about him:

"What comes to mind about Zay is that he never met a stranger or other families whose hearts he didn't touch. He loved the Lord and praised him often. As Zay grew, he was full of love and spread happiness to everyone he was ever in contact with. He is greatly loved and missed by all."

In times such as these, it's important that we join together as an NPD family community to honor those we love and those we've lost too soon. Please know that we will be here in this time of grief and in the coming days, weeks and months ahead with open arms and hearts. Our thoughts and sympathies are with those who loved Zay. 

As more information is made available for his memorial service we will advise the community on our Newsline: http://www.nnpdf.org/Newsline2015.html#Zay

Custom Graphics ~ World Rare Disease Day 2015

Dear NNPDF Friends and Families,

In preparation for World Rare Disease Day, the NNPDF central offices are offering to create custom Facebook & NEW Twitter graphics to honor your NPD loved ones!

Similar to graphics done in the past, we've created these for our families to help spread awareness between now & World Rare Disease Day on February 28th, 2015. This year we've expanded to Twitter covers for those who are more inclined to use that social network. 

Visit the NNPDF Newsline web page for information on requesting a custom graphic: http://www.nnpdf.org/Newsline2015.html#WRDD

Keep an eye on the NNPDF World Rare Disease web page for additional updates as we get closer to February 28th, 2015: http://www.nnpdf.org/WorldRareDiseaseDay.html