NIH Clinical Trials and You

New Web Site Launched

The NIH announced the launch of a new Web site titled NIH Clinical Research Trials and You, geared for those considering participating in a clinical trial.

According to the press release announcing the new site, "Clinical trials are essential for identifying and understanding ways to prevent, diagnose, and treat disease. Research has shown that among the greatest challenges to recruitment of volunteers is the lack of general knowledge about what trials involve, where they are carried out, and who may participate."

This new Web site aims to help potential participants learn about clinical trials and make an informed decision about whether they should take part. The site includes sections on "The Basics," "Volunteer Stories," "Researcher Stories," "Finding a Trial." Also, "For Health Care Providers," "Educational Resources," a glossary of terms, and much more.

Visit the NNPDF's Clinical Trials and Research Studies page for a link to the new NIH site and to learn more.

Spring/Summer is Fundraising and Awareness Time!

The busy spring and summer fundraising and awareness-raising season is now in full swing! Warmer weather is peak time for outdoor events, festivals, community gatherings, and other opportunities to advance the mission and vision of the National Niemann-Pick Disease Foundation, on behalf of all affected by NPD.

Check out our Upcoming Events and Recent Events pages for a taste of all the great activities going on around the country in support of Niemann-Pick Disease Research and NNPDF Family Services programs.

As just one example, the photo above shows the motorcycle being taken around to various events in Florida, to be raffled off to raise funds in memory of little Ryan Richardson (NPC).

If you've never done any fundraising, or if it's been a few years since you held an event, now is the time! Check out the postdoctoral fellowship research projects the NNPDF is currently supporting for some motivation, and let us help you get started in your community.

We can provide brochures (ASMD Type A/B brochures or Type C brochures, all updated in 2010), newsletters and (NEW!) posters for your fundraising needs.

The ever-popular periwinkle PERSEVERE wristbands are an easy way to raise funds and awareness. Packaged individually, each wristband contains a message of appreciation for supporting our Quest for a Cure. Wristbands are $1.00 each and can be sold with minimal effort at any event, or at the checkout counters of supportive local businesses.

One of our member families makes colorful, eye-catching vinyl banners to bring attention to your booth or event. And we can help you with ideas, best practices, press releases, or with requests for official proclamations.

Thank You to all the families, extended families and community members who support the important work of the NNPDF! Visit our NewsLine page for more details about the above ideas, and please let us know how we can be of assistance.

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!

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.

Time is Short - Make a Year-End Gift Today

Two Days Left to Make a Tax-Deductible Contribution

When you make a financial donation to the National Niemann-Pick Disease Foundation, you get so much more than a tax deduction. You will enjoy the wonderful feeling of knowing you’re making a tangible difference in the lives of children, adults and families living with the challenges of NPD!

Your gift drives the essential research that will unlock the mysteries of NPD, bringing effective treatments and therapies for the ravages it wreaks on the body and brain.

Your generosity also provides important support services for the families who walk the lonely road of a rare disease, helping them connect with others who know and understand, and providing them with the information they so desperately need.

Even the most modest donation can make an enormous difference when added together with the gifts of others. Please, remember the families of the NNPDF in your year-end charitable giving!

Thank you for making a difference in the lives of those battling Niemann-Pick Disease!

Make a donation to the NNPDF

Holiday Gifts & Year-End Giving to Support NNPDF

Programs of Research and Family Services Benefit

Online Shoppers: Use this special Amazon.com link to shop online, and GoodSearch when you surf the Web – both benefit the NNPDF-- and you can receive special coupons and discounts, as well.

Each year, a growing number of families depend on the NNPDF for medical information, research updates and emotional support as they struggle to learn about a rare disease while caring for an ill family member.

We, in turn, depend on those with the compassion and the financial resources to help us drive forward the research that will ultimately result in treatments and a cure for NPD, and to provide support services to those affected by this disease.

As you consider your year-end tax planning, we’d like to remind you that a gift to the NNPDF can reduce your income tax obligation, while providing meaningful support for the work of the foundation. If you designate your gift in honor of a loved one, the NNPDF will gladly send them an acknowledgement card.

The NNPDF gratefully accepts direct financial donations, United Way and Combined Federal Campaign contributions, gifts of stock, in-kind donations, and planned gifts such as bequests, beneficiary designations, or life insurance policies. Please visit our special page for more information about these philanthropic year-end gift ideas.

Donations may be mailed to: NNPDF; P.O. Box 49; Fort Atkinson, WI, 53538. Online credit card donations may be made here. We invite you to contact the NNPDF Central Office with any questions.

If you have friends or relatives who might be interested in making a year-end gift in honor of a loved one, please forward this information to them, as well.

2011 Wall Calendars and PERSEVERE Clothing
Ring in 2011 with these quality 2011 wall calendars in two very special designs! Choose from playful puppies or lush scenic paintings by New England Artist Don Greer, grandpa of 7-year-old Naomi Tyrrell (NPC). Calendars are just $10 each, and shipping is free on quantities of five or more.

Encourage your family and friends to “Press On! Keep At It! Get it Done!” with the very popular, stylish and comfortable PERSEVERE wear t-shirts and hoodies.

Sales of these calendars and PERSEVERE wear benefits the NNPDF, raising funds for research and family support services.

Order calendars and PERSEVERE wear directly from Lorna Tyrrell – click the links above for complete details and order forms.

Thank you for your generous support, and "Happy Holidays" to you!

Online Auction for Niemann-Pick Disease

The NNPDF’s Online Auction has something for everyone!
Get a jump on holiday gift shopping, while benefiting research and support services for families battling Niemann-Pick Disease.

The auction offers a full array of exciting items, with all proceeds to advance our Quest for a Cure! Pictured is just a small sampling of the items you’ll find there.

The NNPDF Online Auction is accepting bids up until midnight October 31st. Many new items have been added recently, with items ranging in value from $10 to fabulous trips worth several thousand dollars -- something for every budget and some real “steals” to be snapped up -- gourmet foods, sporting event tickets, “Persevere” clothing, autographed memorabilia, handmade crafts, jewelry, travel, artwork, etc.

Your participation is key to our success. Please help us raise funds to advance research for a cure and to provide important support services for our families!

Please don’t hesitate to contact us if you have any questions or need further information about the October Awareness Online Auction or about Niemann-Pick Disease. Visit the NNPDF at www.nnpdf.org

Institute of Medicine Releases Report on Rare Diseases

The Institute of Medicine (IOM) recently released a report calling for implementing an integrated national strategy to promote rare diseases research and product development.

The report, Rare Diseases and Orphan Products: Accelerating Research and Development, is the result of a two-year study commissioned by the National Institutes of Health (NIH) and the Food and Drug Administration (FDA).

To read the full report, visit the NNPDF's Latest Research page and click the link.

October is Niemann-Pick Disease Awareness Month!

October is the time to raise awareness about Niemann-Pick Disease!

We need to get the word out about this rare disease to doctors, families, government leaders and the general public.

We invite and encourage each family to look within their family structure, friends and community support networks to create their own team and sponsor an awareness campaign and/or fundraising event during October 2010.

The NNPDF has a wealth of experience and resources to support you in any fundraising/awareness project you'd like to undertake, from a simple "Persevere" wristband sale or a "Family and Friends" letter, up to an all-out gala or golf tournament. Take a look at what other NNPDF families are cooking up for October.

One easy and effective way to support the foundation's goals of research into treatments and a cure, and to support families affected by Niemann-Pick Disease, is to participate in this October's Online Auction as a donor and/or a buyer.

It’s a win-win-win situation – the winning bidder gets a great deal on something they like with the added satisfaction of knowing their money is supporting a favorite cause, while the donor has a great feeling knowing their gift will go far to help families affected by NPD. Best of all, the NNPDF is able to use the proceeds to diligently advance our mutual Quest for a Cure!

There are three ways you can help us make this auction a big success: donate an item(s) for auction; bid on auction items; and spread the word to all your family and friends so they can bid, too! (Please visit our Web site for all the details.)

We are busy getting our auction site set up so you can start to "window shop" the items up for sale. Please check the foundation's Online Auction Web page next week for a link to the auction itself. And we hope to hear from you soon regarding what you might be able to donate for this exciting new fundraising opportunity!

As always, Thank You for your continued support! Together, we can make a difference!

2010 Pentchev Research Fellowships Announced

The NNPDF is pleased to announce the recipients of the 2010 Peter G. Pentchev Postdoctoral Research Fellowships!

The research projects of Dr. Nicholas Cianciola of Case Western Reserve University, and Dr. Dorothea Maetzel of the Whitehead Institute for Biomedical Research, were selected through an application process which included reviews by the members of the NNPDF's Scientific Advisory Board (SAB).

Dr. Dan Ory, Chair of the NNPDF's Scientific Advisory Board summarized the two selected projects:

1. Nicholas Cianciola - "Activation of an alternative cholesterol homeostatic mechanism in NPC"
Dr. Cianciola’s project builds upon an exciting observation he made while a graduate student and will explore the role of a viral protein in facilitating movement of cholesterol from lysosomes. The research has the potential to identify new therapeutic targets to stimulate release of cholesterol from lysosomes in the absence of a functional NPC1 protein.

2. Dorothea Maetzel - "In Vitro modelling of Niemann-Pick type C Disease Using Patient-Specific Induced Pluripotent Stem Cells"
Dr. Maetzel’s project will lead to development of pluripotent stem cells from human NPC mutant fibroblasts. The stem cells will then be used for high throughput assays to identify small molecules that can correct the cholesterol accumulation in the NPC cells. Development of these cell lines will allow allow testing of whether the genetic defect can be corrected in the stem cells, which could have therapeutic potential.

For more details, including links to the two researchers' Lay Summaries, please visit the National Niemann-Pick Disease Foundation's Latest Research page.

Congratulations, Dr. Cianciola and Dr. Maetzel! Thank you for your work in advancing Our Quest for a Cure!

Promising Therapies for NPC

"Promising Therapies for Niemann-Pick Type C Disease"
NINDS Meeting
June 2010

We have had quite a bit of discussion on our listserv pertaining to the recent research and treatment options for Niemann-Pick Type C (NPC) Disease.

To provide some background and insight for these continuing discussions, we have compiled a summary of the presentation abstracts from the "Promising Therapies for Niemann-Pick Type C Disease" meeting sponsored by the National Institute of Neurological Disorders in Rockville, Maryland, June 3-4.

Visit the NNPDF's Latest Research page to read the presentation abstracts from this important conference.

Join us in Toronto August 5 - 8, 2010!

Mark your calendar and start planning your trip! The National Niemann-Pick Disease Foundation's 18th Annual Family Support and Medical Conference will be held in Toronto, Ontario, August 5th - 8th, and we want YOU to join us there!

We are so excited about this first-ever international conference, co-hosted by our sister chapter, the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF). We have already heard from several families from other countries that they plan to join us for this conference, and we expect an excellent turnout from the NPD scientific community.

We are planning a conference chock-full of information, inspiration and fun for families affected by Niemann-Pick Disease. This is your opportunity to hear the latest in NPD research directly from the eminent doctors, scientists and researchers in the field. You will have ample opportunities to meet and network with other families facing similar challenges, and you will take home friendships and memories that will last a lifetime!

Visit our Web page for all the details about our conference, travel tips, a link for hotel reservations, conference registration forms, and more. Be sure to check back often, as we are updating conference information almost daily.

Complete registration packets will also be mailed to all NNPDF and CCNNPDF member families in May, so be sure to let us know if your mailing address has changed.

Conference attendees from outside Canada, including the U.S., will need passports, so dig yours out and make sure it is still valid, or go apply for one ASAP, and start making your travel arrangements today. There are some great airfares out there, and for some, the train or bus may be even more reasonable options.

Please contact us if you have any questions about this year's Niemann-Pick Disease Family Support and Medical Conference, and we hope to see you in Toronto!