2013 World Rare Disease Day Updates

Dear NPD Community,

In recognition of 2013 World Rare Disease Day, February 28th, the NNPDF would like to provide you with the latest updates to share with friends and family to help raise awareness into Niemann-Pick Diease. We will PERSEVERE in our Quest for a Cure! 

To view: Click Here

NNPDF 21st Annual NNPDF Family Support an Medical Conference!

"Harbor of Hope ~ Believing in Tomorrow!”

Join the family members of the National Niemann-Pick Disease Foundation (NNPDF) for the 21st Annual Family Support and Medical Conference to be held in ~ Baltimore, MD ~ Thursday, August 1st thru Sunday, August 4th, 2013! The family conference offers all in attendance an unmatched opportunity to learn about the latest scientific & research news and information directly from the TOP experts in the field of NPD research, medical care and clinical trials.  In addition, our attendees have an opportunity to network with other families who share similar challenges as they journey on with loved ones diagnosed with Niemann-Pick Disease.

This year the NNPDF is pleased to also be hosting the third meeting of the International Niemann-Pick Disease Alliance (INPDA)! The foundation will welcome INPDA attendees from 16 countries around the WORLD who all have the same focus ~ that we WILL Persevere in our Quest for a CURE for Niemann-Pick Disease! 

The conference will be held at the Sheraton “Inner Harbor” Hotel in Baltimore, Maryland, USA.  You may find more information about the conference on our foundation web site at: http://www.nnpdf.org/familyservices_03.html. 

We will be updating the web pages with more information as it becomes available.  We hope to see many of you at the “Harbor of Hope” in Baltimore, MD this summer.

Press Release from NIH on Cyclodextrin Trial

Dear Families and Friends,

The NNPDF central office received a press release from the National Institute of Health (NIH) NPC Clinic from Dr. Forbes "Denny" Porter with an update on the Cyclodextrin Trial.

Visit the NNPDF Cyclodextrin page to view it.

UPDATE: FDA Approves NIH TRND Team for NPC Cyclodextrin Clinical Trial!

Dear Families and Friends,

The NNPDF central office received the following update from the National Institute of Health (NIH) NPC Clinic from Dr. Forbes "Denny" Porter.

"We were informed today that the FDA has removed the clinical hold on the hydroxypropyl-β-cyclodextrin trial. We are planning to enroll the first patient in two weeks. This trial is a major step in trying to determine if this is a safe and biochemically effective drug for NPC. Our goal is to use data from this trial to optimize the design of a larger second trial focused on clinical efficacy. Thank you for your help and support!
The TRND Team"

To follow updates and breaking news visit the Cyclodextrin page on the NNPDF web site. 

NIH's Clinical Trial of Cyclodextrin Update

Dear Families and Friends,

The NIH 2-hydroxypropyl-β-cyclodextrin trial has been put on hold by the FDA.  The FDA had specific issues regarding the trial, the majority of which we were able to resolve during a teleconference on December 10, 2012.  However, there were questions concerning the compatibility of the drug and the Ommaya reservoir.  Both Johnson and Johnson and Integra (the manufacturer of the Ommaya reservoir) provided significant assistance in helping to answer these questions. 

The FDA was provided with our complete written response to their questions on December 13th and we provided an updated protocol on December 31st.  We are currently waiting for the review of our response from the device division, and we believe that we have adequately addressed their concerns.  The FDA has 30 days (plus Federal holidays) from December 13th to provide a formal response.  In order to allow for this, we have moved back our targeted start date by two weeks to the end of January 2013.  This will allow us time to accommodate a positive response from the FDA and to reconcile any changes with what the NICHD IRB has approved.     

We fully understand the disappointment that this message entails; however, we are committed to resolve any further questions that the FDA may raise.  Despite this delay, we are hopeful that we are very close to the start of the trial.  We will plan to update the NPC1 community as more information becomes available.  

The TRND Team

Holiday e-Newsletter!

2012 Winter Holiday e-Newsletter

The holiday e-newsletter is now available!  Click the link below to see the highlights of the past year and what is in store for 2013!

~2012 Winter Holiday e-Newsletter~

[Dec. 26, 2012 blg]

Fellowship Announcement

National Niemann-Pick Disease Foundation Research Post-Doctoral Fellowship Funding Announcement 

~Oct/Nov 2012~ 

The National Niemann Pick Disease Foundation (NNPDF) has chosen to fund post doctoral fellowships for the past several years. These fellowships support a post doctoral fellow to work on a research project in the field of Niemann-Pick Disease for a period of two years. The NNPDF has utilized strategies to allocate funds raised by NPD families by disease type to support these specific NPD disease focused fellowships.

In the past several years, NNPDF has been able to fund a number of fellowships for Niemann-Pick Disease Type C. These are called the Peter G. Pentchev Research Fellowships and the NNPDF in conjunction with the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) are currently funding the work of five (5) Peter Pentchev fellowships.

This year we were able to establish a fellowship for Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease) research entitled the Edward H. Schuchman Research Fellowship for ASMD Niemann Pick Disease. We received 5 strong applications for the fellowship and I am pleased to announce that the first Edward H. Schuchman Fellowship has been awarded to Dr. Lluis Samaranch Gusi (sponsor Dr. Krystof S. Bankiewicz, MD, Ph.D.) at the University of California San Francisco.

This fellowship research project is entitled: “AAV9 mediated human acid sphingomyelinase expression in the non-human primate brain; Preclinical development of gene therapy for Niemann-Pick Disease Type A”. The goal of this project is to develop a treatment for the neurological consequences of Niemann-Pick Type A Disease. This project will evaluate the feasibility of delivering an adeno-associated virus encoding human acid sphingomyelinase globally into the brain by injection of a vector into the brain and/or the spinal canal.

Respectfully submitted by:
Sandra Cowie
NNPDF Research Committee Co-chair

For more detailed information please Click here.

For information on the history of Research funding you can visit the following pages:

• Fellowships
• Grants
• Clinical Research 

[Nov. 27, 2012 blg]