Friday, May 29, 2015

Support These NPD Awareness Events This Weekend!

Dear NNPDF Families and Friends,

The NNPDF Central Office would like to remind our family membership that there are two NPD related events taking place this weekend!

Gladys Night In Concert

The first event is being hosted by the Phil and Andrea Marella Family in loving support of their children with NPC, Dana and Andrew.

Gladys Knight in Concert for DART
Saturday, May 30th, 2015
Palace Theatre, Stamford, CT

On Saturday, May 30th, 2015, Gladys Knight will perform for Dana's Angels Research Trust (DART)!  7-time Grammy Winner GLADYS KNIGHT will headline DART's 2015 Gala Concert for NPC research! Come ride THE MIDNIGHT TRAIN... to Stamford!

The concert will kick-off with a Gala Benefit that includes an elegant cocktail reception with a pasta bar by World-Famous RAO’s Italian Restaurant, silent and live auctions, and celebrity hosts Kathie Lee and Frank Gifford. Scott Shannon of WCBS-FM 101.1 will introduce Gladys Knight!

For more information on the event and to purchase tickets you can go to

The second event is an event in support of the International Niemann-Pick Disease Alliance (INPDA). 

Felix Schleuniger from Switzerland will start his 2,500 mile Great Mountain Bike Ride on Sunday, May 31st, 2015. 

Please join us in Albuquerque on May 31st to support Felix and Niemann-Pick patients worldwide. 

Felix is riding and fundraising for the International Niemann-Pick Disease Alliance, a support organization for those affected by Niemann-Pick Disease. 

Lisa Chavez, Co-Vice Chair of the NNPDF, her family and other Niemann-Pick families from the nearby community of Albuquerque, New Mexico will be meeting Felix at the start-line of his trek and wishing him good luck on his arduous journey.  

Please share this information and the INPDA FaceBook page developed in support of Felix with all of your friends and be certain to follow Felix along on his adventure!

Tuesday, May 26, 2015

Keaton J. Smith (NPC) 09/24/2000 ~ 05/22/2015


Dear NNPDF Families and Friends,

It is with a heavy heart that we notify our NPD family membership of the passing of Keaton J. Smith (September 24, 2000 - May 22, 2015 ~ NPC), who courageously fought the NPC battle for 14 years. Keaton played on the Tippy Stars Baseball Team and was a huge fan of Purdue men’s and women’s basketball. He was an 8th grader at Battle Ground Middle School and a member of St. Thomas Aquinas Center in West Lafayette, Indiana. 

Keaton’s family noted that they draw some comfort in knowing that he is now playing with his brother Braden and sister Riley who both also suffered from Niemann-Pick Disease and passed away in 2006 and 2014 respectively.

To Keaton’s loving parents, Trent and Julie, and beloved older sister, Chandlar, please know that your NNPDF family is here for you and to let us know if you need anything in the coming days, weeks and months ahead. We are holding you all in our hearts and thoughts.

Keaton’s obituary can be found at

Tuesday, May 19, 2015

May 2015 e-Newsletter ~ Now Online

Dear NNPDF Families and Friends,

The NNPDF May 2015 e-Newsletter is available! Highlights include:
  • 23rd Annual NNPDF Family Support and Medical Conference
  • Update ~ A Message from your Foundation Board of Directors! 
  • NNPDF Membership ~ Action Required 
  • NNPDF Fellowship Research Progress Reports
  • Clinical Trial News & Updates 
  • Fundraising & Recipes for Success 

Monday, May 11, 2015

Orphazyme Clinical Trial Development Update on Arimoclomol in NPC

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation has been advised by Orphazyme that an “Observational” clinical study for NP-C, tied to their clinical development program of arimoclomol in NPC, has been registered and made available on The link to the information pertaining to just this trial is at:

This information was updated as of April 30, 2015. 

At this time, no site in the United States has been announced and currently the study is not open for participant recruitment. Orphazyme has indicated that they are targeting a clinical trial to start date in the United States toward the end of first quarter 2016. As we receive further announcements and updates, it will be posted to our NPD family community! 

You can read either the full text view or the tabular view depending upon your preference. The text allows you to see the inclusion and exclusion information along with the primary outcome measures they will be looking at. 


Nadine M. Hill
Executive Director
National Niemann-Pick Disease Foundation

Friday, May 8, 2015

Happy Mother's Day from the NNPDF!

To all our NPD Families and Friends,

Many of our NPD Mom’s will be joining will family in celebration of Mother’s Day around the world this Sunday. May your day, and all those to follow, be filled with love and joy. 


A Re-Introduction to the Canadian Chapter of the National Niemann-Pick Disease Foundation


Dear NNPDF Families and Friends,

Many of you may not be aware of the fact that NNPDF has a sister chapter in Canada. The Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) and the NNPDF work collaboratively to help support families and research to find treatments and a cure for all types of Niemann-Pick Disease. The NNPDF office in the United States provides administrative, marketing and family support for the CCNNPDF. Please see the new CCNNPDF e-newsletter to learn more about what is on the horizon for our families and friends in Canada.

All my best, 

Nadine Hill
NNPDF Executive Director

Tuesday, May 5, 2015

Vtesse Webinar Summary & SoundCloud Podcast with CEO Ben Machielese

Dear NNPDF Families and Friends,

The NNPDF Central Office is pleased to provide our Niemann-Pick type C family membership community with a summary from the April 16th Vtesse sponsored webinar for those of you who could not be in attendance.  Please find the PDF document via this link:

The Vtesse webinar addressed the progress and updates tied to plans for the VTS-270 (cyclodextrin) Phase II & III clinical trials for Niemann-Pick Disease, Type C (NPC). To see an agenda of the topics discussed during the call ~ please follow this link: April 16th Vtesse sponsored webinar

In addition, we are including a podcast with Ben Machielse, CEO of Vtesse, Inc as he discusses:
  • What is Niemann-Pick Disease type C.
  • The role that NPC parents & patients have played in getting the research moving forward.
  • How NIH & NCATS paved the way for the Cyclodextrin clinical trial.
  • Vtesse, Inc, Cydan and how they became involved with Cyclodextrin.

Visit the Vtesse page on the NNPDF web site for the PDF webinar summary and Podcast:

Friday, May 1, 2015

FDA & NPB Patient Groundbreaking Meeting held on Wednesday, April 29th, 2015 ~ Recap


Dear NNPDF Families and Friends,
Recently, the leadership of the NNPDF was approached by representatives from Genzyme (A Sanofi Company) regarding a ground-breaking opportunity for our Niemann-Pick Type B patient community. Representatives from the United States Food and Drug Administration (FDA) involved with the regulatory aspects of the upcoming Genzyme pediatric and adult Enzyme Replacement Therapy Clinical Trials had asked to meet with members of the NPD Type B patient community.
To view the full list of attendees & a recap of the meeting, which was held this past Wednesday, April 29th, 2015, visit the NNPDF Newsline web page: