Friday, June 19, 2015

From the Desk of Chris Klauer, NNPDF Family Services and Marketing Coordinator ~ 06/19/2015


In support of all in our NPD patient & family membership community, I will be posting weekly informational updates and NNPDF related resource opportunities.  These posts will cover a broad range of topics and I welcome you to share any resources which you have identified and/or contact me if you need specific assistance with an issue.

One thing I have learned from my many years of teaching students with special needs is that behind every child or adult is an awesome parent or caregiver supporting and addressing their every need.  Therefore, my post this week focuses on “Caring for the Caregiver” and Respite Care.  I have also included a quick “tid-bit” about the upcoming Chicago Family Conference.  Please review the NNPDF Family Services web page for my weekly posts and links to resources.

You can always reach me at: or call me at 1-877-287-3672. I look forward to the opportunity to help you find resources related to your situation/issue and welcome hearing of the “tricks-of-the-trade” that you have learned and identified in your journey.

Have a great weekend!


Thursday, June 18, 2015

Bart Vernon Mackie (NPC) 05/31/1962 - 05/28/2015


Dear NNPDF Families and Friends,

It is with deep heartbreak that the NNPDF Central office passes along word that Bart Vernon Mackie (aged 52 years) has lost his courageous and long fought battle with Niemann-Pick Disease type C (NPC) on May 28, 2015.  Bart loved and played baseball in his twenties and later worked as a heavy equipment operator.

Bart’s family and friends will join together in loving celebration of his life on Saturday, June 20th at Noon at Hope Church at Silver Lake in Everett, Washington.  His family has generously asked that remembrances and memorials be made in Bart’s name to the National Niemann-Pick Disease Foundation at .  Bart’s older brother Bradley G. Mackie preceded him in death on July 31st, 2014 at the age of 54 years from complications of NPC.

To Bart’s loving wife, Elaine of 26 years; his two beautiful and cherished daughters, Shanna and Kelsey; his mother Lynne and stepfather Jim Lambright; his father Vern and his sister Regan ~ we send our sincerest condolences and our hearts grieve along with you.  Please know that your NNPDF family is here for you as you travel down this path without your beloved son, brother, husband, father and friend at your side ~ not only today but in the days, weeks and months ahead.

For the obituary and the link to send condolences to the family, visit the Newsline:

Tuesday, June 16, 2015

The June 2015 NNPDF e-Newsletter is Online Now!

Dear NNPDF Families and Friends,

The NNPDF June 2015 e-Newsletter is available! Highlights include:
  • 23rd Annual NNPDF Family Support and Medical Conference
  • Update ~ A Message from your Foundation Board of Directors! Becky McGuire, NNPDF Development Committee Chair 
  • 2015 Michael, Marcia & Christa Parseghian Scientific Conference for NPC 
  • NNPDF Membership Registration Announcement 
  • INPDA ~ New Website 
  • Clinical Trial News & Updates ~ Genzyme & Vtesse Press Releases 

Monday, June 15, 2015

"Alone We Can Do So Little; Together We Can Do So Much" ~ Helen Keller

It takes more than one person to raise funds…

Here at the NNPDF we appreciate all of those that are working together raising funds to help support our programs and promote research to find a cure for all of those affected by NPD.

Below are the fundraisers that the NNPDF is aware of that you might be able to take part in.  Together we can do so much!

For more information about each fundraiser please go to our website at:

  • Yankee Candle ~ March 12th – June 31, 2015
  • Johnathan’s Dreams Fundraiser ~ July 11, 2015
  • Family Fun Day in Support of  Hayley Koujaian ~ July 11, 2015
  • 2nd Annual Living Like a Warrior Gala ~ July 11, 2015
  • 6th Annual Ryde 4 Tylor ~ July 18, 2015
  • Ride for Adam Benefit ~ August 1, 2015
  • 9th Annual Dillon Papier Charity Golf Tournament ~ September 18, 2015
  • Willow Wicks ~ Turley Tot Collection~ Ongoing
  • Don’t forget you can also help raise money for the NNPDF by going to the NNPDF Store at 

The NNPDF recently developed a Fundraising and NPD Awareness Services Plan. You can find it at Klauer, Family Services and Marketing Coordinator will be happy to talk you through your fundraising event and assist you with NNPDF resources. Please contact her at

Friday, June 12, 2015

From the Desk of Chris Klauer, NNPDF Family Services & Marketing Coordinator

Dear NNPDF Families and Friends,

The Family Conference is fast approaching!  I for one am very excited and cannot wait to meet all of you! The Registration Packets have been mailed.  If you did not get one please email me at and I can email you one or you can go to and all of the information can be found there.   

For those of you traveling with a child that has special needs I did find an article that may help you out. Please go to:

I also wanted to let you know that Nadine Hill, NNPDF Executive Director, is attending the Michael, Marcia, and Christa Parseghian Scientific Conference for Niemann-Pick Type C Research from June 11-13, 2015 at the University of Notre Dame.  

Lastly please do not forget to go to the Online Membership Form and submit your information today!  The NNPDF is the MAIN line of communication between clinical trial updates and our Foundation Membership. It is critical that the NNPDF Central Office have your updated contact information. 

Don’t forget if you have a question or need to talk just let me know.  I monitor the Facebook Awareness Page all day so you can always send me a private message.  You can also email me at or call me at 877-287-3672.  

Have a great weekend!

Monday, June 8, 2015

Special Update from the NNPDF Board of Directors ~ June 8th, 2015


Dear NNPDF Families and Friends,

New for 2015, the NNPDF Board of Directors rolled out a new communication strategy which we hope will assist you in feeling more connected with the work of the foundation and your Board Representatives. This new communication strategy offers the foundation a unique opportunity to share on-going efforts, as well as new and existing programs, projects and activities being addressed on your behalf, our family membership and NNPDF key stakeholder’s.  Crucial to the role of the foundation is that of “communication liaison” between pharmaceutical and research agencies working to bring innovative therapies to our NPD patient community via clinical trials.

Today, we wish to share with you an update from the 2015 Development Committee Chair, Becky McGuire, of Torrington, Connecticut.  Becky  serves on the foundation board in a volunteer capacity and in honor of her cousin, Kelly Thompson (NPC, age 36 years).

Visit the NNPDF Newsline web page for the full update:

Thursday, June 4, 2015

NIH Pharmacy Development Section Issue - NOT applicable to NPC trials - Notes Dr. Porter of NIH


Dear NNPDF Families and Friends,

This afternoon a press release from the National Institutes of Health (NIH) outlined the discovery of a serious manufacturing problems and lack of compliance with standard operating procedures discovered during a recent at the NIH Pharmacy Development Section which the FDA inspected in late May 2015. We have received the following comments from Dr. Forbes Porter as it relates to the two Niemann-Pick Disease Type C (NPC) clinical trials which are currently being conducted at the NIH.


From: Dr. Forbes Porter
RE: NIH Pharmacy Development Press Release
Dated: Thursday, June 4th, 2015

To all:

I would like to notify you of an issue that has occurred in the NIH Pharmacy Development Section that is likely to hit the news. Please see below. I am concerned that there may be some confusion with respect to an investigational drug manufactured by the Pharmacy Development Section (PDS) and an investigational drug dispensed by the NIH pharmacy.

This does not affect either the cyclodextrin or vorinostat studies. 

We are currently in the process of trying to notify the families that are participating in our trials. Please feel free to post or distribute to those that may hear the news and have questions. 


Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD, NIH
Program Head, PDEGEN, NICHD, NIH
Clinical Director, NICHD, NIH

Visit the NNPDF Newsline for the full press release:

NNPDF ASMD News: FDA Grants Breakthrough Therapy Designation for Genzyme’s Olipudase Alfa

Genzyme logo

Dear NNPDF Families and Friends,

The NNPDF Central Office is pleased to share a Press Release from Genzyme, a Sanofi Company, (dtd:  Thursday, June 4th, 2015) which announces that the United States Food and Drug Administration (FDA) has granted “Breakthrough Therapy” designation to olipudase alfa. This enzyme replacement therapy (ERT) is being investigated for the treatment of patients with nonneurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick Disease type B. 

Breakthrough Therapy designation is intended to expedite the development and review of investigational new drugs that target serious or life-threatening conditions which have an unmet therapy or medical treatment. 

Please visit the NNPDF Newsline page ( for access to the full press release, as well as, to learn more information about the FDA “Breakthrough Therapy” designation and the impact that this FDA designation will have on the upcoming pediatric and adult clinical trials in the United States.