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]

NIH Cyclodextrin Trial Updates

Hello NNPDF Families and Friends, 

We have received an additional update from the Therapeutics for Rare and Neglected Diseases ~ Niemann-Pick Disease Type C Team (TRND NPC Team) at the National Institutes of Health (NIH) with new information on the Phase I Study of the Cyclodextrin (HP-b-CD) for NPC1 Disease. 

The application for an Investigational New Drug (IND) was filed with the United States Food and Drug Administration (FDA) on Wednesday, November 14th, 2012! Please follow the link below to the NNPDF "Cyclodextrin" web page for more details. 

Cyclodextrin page on NNPDF

Sincere and heartfelt THANKS to ALL those who have worked to diligently to see this program move forward. We WILL Persevere in our Quest for a Cure! 

~Nadine

Trek Atlas Ingram

Trek Atlas Ingram (NPA)
4/11/11 - 6/21/12



Very sadly we pass along the news that little Trek Atlas Ingram has passed away due to the effects of Niemann-Pick Disease Type A (NPA). Trek traveled the world in his short life, venturing with his family from his first home in Hawaii to Thailand, Nicaragua, Japan and around the U.S.

Trek is survived by his parents, Jarrett and Chelsea Ingram, and two older brothers, Peyton and Conner, along with many other relatives and friends.

To read about the global adventures that filled Trek's life, visit the family's blog at Our Sonny Life. A celebration of Trek's life will be held on a Maui beach at noon on Saturday, June 30. For more information, visit the blog babytrekatlas.com.

Our heartfelt sympathy goes out to Trek's family and many friends around the globe.

To learn more about Niemann-Pick Disease Type A, visit www.nnpdf.org.

Notre Dame Dean Riding Across the U.S. Raising Awareness of Niemann-Pick Disease

University of Notre Dame's Greg Crawford is undertaking his third cross-country bicycle ride to raise awareness and funding for Niemann-Pick Disease. Crawford is the Dean of the College of Science at UND.

Crawford began his ride in Boston, Massachusetts, on May 21, and plans to finish the 3,250 mile ride in Pebble Beach, California, later this month.   For updates, visit Crawford's blog at http://blogs.nd.edu/gregcrawford/. 

For more information about Niemann-Pick  Disease, visit http://www.nnpdf.org/.