NNPDF Research Updates

Postdoctoral Fellows Report on their Work

The NNPDF is very pleased to currently be providing support to four postdoctoral research fellows, all conducting studies on various aspects of Niemann-Pick Disease.

The four fellows, Dr. Fabrizio Vacca, Dr. Ian Williams, Dr. Nicholas Cianciola, and Dr. Dorothea Maetzel, recently sent us updates on their ongoing research projects. The NNPDF extends its great appreciation to these scientists as they work to unlock the mysteries of NPD, and to hasten the journey to effective treatments and a cure.

Please visit the NNPDF’s Fellowships Funded page to read the latest reports from our postdoctoral fellows.

Research funded by the NNPDF is made possible largely due to the diligent efforts of our member families and their extended support networks hosting local community events. The NNPDF is truly grateful for this support! Thank you for your help as we PERSEVERE in our Quest for a Cure!

NIH to Develop Clinical Trial Utilizing Cyclodextrin

Informational Conference Call to be Scheduled

The National Institutes of Health (NIH), in collaboration with the Therapeutics for Rare and Neglected Diseases Program (TRND), is developing a clinical trial utilizing cyclodextrin for Niemann-Pick Type C patients.

The clinical trial is in the planning phase and many criteria must be met and numerous approvals granted before the trial can take place. Dr. Porter, a Senior Investigator at the NIH, and Dr. Ory, NNPDF Scientific Advisory Board Chair, are working collaboratively to bring this trial to our NPC patient community.

In early May, the NNPDF will host a conference call with key constituents and researchers, for all interested parties in the NPC community to learn more about the work being done at the NIH. This conference call will include information pertaining to the development of plans for a cyclodextrin trial.

As a date and details for the conference call are confirmed, the NNPDF will update and inform our NPC family membership with the call-in information, agenda outlines and topics of discussion. We anticipate that after the presentation, the conference call format will allow participants to submit questions to the speakers/researchers.

Further updates on the clinical trial will be presented at the NNPDF Family Support and Medical Conference in Norfolk, Virginia, July 28th - 31st. Dr. Porter and Dr. Ory will answer questions pertaining to the clinical trial and will report up-to-date information about the trial at the conference.

For more information about Niemann-Pick Disease and the National Niemann-Pick Disease Foundation, visit www.nnpdf.org.

Paper Published on Study of Histone Deacetylase Inhibitor for Use in NPC

A paper claiming a breakthrough in the fight against Niemann-Pick Disease Type C (NPC) appeared in a recent issue of Proceedings of the National Academy of Sciences (PNAS). The paper, coauthored by Olaf Wiest and Paul Helquist of the University of Notre Dame and Frederick Maxfield of Cornell University, says the use of an unspecified histone deacetylase inhibitor corrects the damage done by the genetic disorder NPC and allowed once-diseased cells to function normally.

To help understand the press release issued by Notre Dame on March 21, the NNPDF consulted three respected experts in Niemann-Pick Disease Type C: Dr. Dan Ory of Washington University, Dr. Marc Patterson of Mayo Clinic, and Dr. Denny Porter of the National Institutes of Health. These experts caution against jumping to premature conclusions.

For more details, including links to the press release and the article abstract, along with statements from the experts consulted by the NNPDF, please visit our Latest Research page.

NIH Director Francis Collins Conducts Webinar on NCATS

The National Institutes of Health (NIH) Director Dr. Francis Collins was the featured guest of a recent Webinar designed to separate fact from fiction about the proposed National Center for Advancing Translational Sciences (NCATS).

Over 600 Webinar participants included members of patient advocacy groups, medical research foundations and other stakeholders in the medical research system.

Niemann-Pick Disease Type C (NPC) was featured as an example of a rare disease that could benefit from NCATS.

The Webinar was sponsored by FasterCures (The Center for Accelerating Medical Solutions).

Visit the NNPDF Web site's NewsLine page for a link to view the hour-long Webinar, and a link to a glossary of acronyms and terms used.

2011 Peter G. Pentchev Postdoctoral Research Fellowships

Research Fellowships Support Study of Niemann-Pick Disease Type C

The NNPDF invites applications for the 2011 Peter G. Pentchev Postdoctoral Fellowships. These fellowships provide funding for research projects studying the biology of Niemann-Pick Type C (NPC) disease.

M.D., Ph.D., and D.V.M. postdoctoral fellows are eligible to apply for funding to improve understanding of the biology and pathogenesis of NPC. Preference will be given to research projects developing new therapies for NPC, and identifying biomarkers of disease activity for diagnosis and clinical trials.

The fellowships provide support of $50,000 per annum for two years and may be renewable based on performance. Applications are due May 1, 2011.

For more information about Niemann-Pick Disease, visit the NNPDF Web site. For complete details about the Peter G. Pentchev Fellowships, visit this page.

Jimmy "Lee" King and Michelle Rose Trombley

We are very sad to pass along the news of the loss of two more young adults to the tragic effects of Niemann-Pick Disease Type C (NPC).

Lee King, age 20, of Alabama, and Michelle Trombley, age 24, of Minnesota, both recently lost their battles against this devastating disease.

Please visit the NNPDF's NewsLine page for more, including links to the obituaries and memorial information.

We extend our deepest sympathy to both families in this difficult time.

Making the Most of Your Visit to the NNPDF Web Site

If you've spent much time at the NNPDF Web site (http://www.nnpdf.org/), you probably know that the site serves as a vital, accurate and up-to-date source for information about Niemann-Pick Disease. The site is updated frequently and serves a worldwide audience, as evidenced by the ever-increasing number of contacts received by the NNPDF from around the globe.

While we strive to ensure the NNPDF Home page is user-friendly with links to the latest news and hot topics, the Web site has many pages and contains a great deal of information. To help you find the content you need and make the most of your visits to our site, we have put together a one-page document of tips. The article gives you tips on how to quickly search the site for a specific topic, and where to look for the latest news when you don't have a lot of time to spend.

Please visit our NewsLine page for a link to a PDF of the tips. We hope you find them helpful!