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/.

Videocast of Presentation by Dr. Porter

Development of Therapeutic Interventions for
Niemann-Pick Disease, Type C1

Dr. Forbes "Denny" Porter of the National Insitute of Child Health and Human Development, National Institutes of Health, presented Clinical Center Grand Rounds at the National Institutes of Health on May 16, 2012. Dr. Porter's presentation was titled Development of Therapeutic Interventions for Niemann-Pick Disease, Type C1.

The NIH produced a videocast of Dr. Porter's presentation, and you can download or watch the video.  Visit the NNPDF's NewsLine page for more information and a link. 

Visit the NewsLine page often for the latest updates in news and research.  See also our Upcoming Events page for fun and worthwhile awareness and fundraising events being hosted all around the country, including the annual Ducks for Bucks family event coming up June 2.

Monica Taillefer

Monica Marie Amanda Taillefer (NPC)
8/5/09 - 5/2/12

With broken hearts, we share the news that Monica Taillefer, the daughter of Simon Taillefer and Heather Patenaude of Quebec, Canada has passed away. "Princess Monica," as we love to call her, was two and a half years old, far surpassing all expectations. Monica passed away at home in the loving arms of her parents, at 9:34 p.m. on Wednesday, May 2nd. Remarkably, Monica was also born on a Wednesday at 9:34 p.m.

From the beginning, persisting in the face of their baby's grim diagnosis of Niemann-Pick Disease Type C, Heather and Simon resolved to make every day and every moment special. The Patenaude-Taillefer family generously shared their family's story and photos with us to help raise funds and awareness for the fight against Niemann-Pick Disease, and through the seasons, little Monica's happy face has brought smiles to so many who never had the joy of meeting her.

Our deepest sympathy to Heather and Simon, their extended family, and many friends at this very sad time.

Visit Monica's special page to see photos of her family's celebrations.

For more information about Niemann-Pick Disease, contact the National Niemann-Pick Disease Foundation (http://www.nnpdf.org/).

Update from Genzyme on ASMD Clinical Trials

Update on Clinical Trial of Enzyme Replacement Therapy (ERT) for Acid Sphingomyelinase Deficiency (ASMD)

The National Niemann-Pick Disease Foundation (NNPDF) has been staying in touch with representatives from Genzyme with regard to the status of Phase 2 of the Enzyme Replacement Therapy (ERT) clinical trial for Acid Sphingomyelinase Deficiency (ASMD) NPD Type B.

It seems there has been some confusion among members of the ASMD community; please note that we have contacted Genzyme and confirmed that the Phase 2 trial has not been cancelled and the Genzyme/Sanofi Company is committed to the ongoing support of our NPD Type A and B patients and families.

Genzyme has advised that they are still actively preparing for a Phase 2 clinical trial for enzyme replacement therapy in ASMD/NPD Type B. The trial is expected to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks.

The program remains a key priority for Sanofi. They are committed to the Niemann-Pick community and have provided the NNPDF with an update on the Genzyme-sponsored Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials.

To read the update from Genzyme, visit the NNPDF's NewsLine or Enzyme Replacement Therapy Type B page.  To learn more about Niemann-Pick Disease of all types, visit http://www.nnpdf.org/.