NPC Research Updates

Research into Niemann-Pick Disease Type C (NPC) is moving forward with some exciting findings through work being done by the eminent experts in the field.

Many scientists and physicians gave reports and updates at the recent 2011 Scientific Conference on NPC, hosted by the Notre Dame College of Science, and two new studies have been recently published (principal authors Dr. Steve Sturley and Dr. Fred Maxfield) on the potential use of HDAC inhibition for NPC.

Please visit the National Niemann-Pick Disease Foundation's Latest Research page for more information.

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

Cyclodextrin Results in Mice May Help Shape Clinical Trial for NPC

Wall Street Journal Health Blog Article

In an article by Amy Dockser Marcus, the Wall Street Journal's Health Blog reported on a paper recently published in the Journal of Neuroscience on the use of cyclodextrin to treat NPC in mice. The paper's authors, led by Dr. John M. Dietschy of the University of Texas Southwestern Medical School, report that the treatment not only kept the mice alive, but prevented the cognitive decline of NPC.

From the WSJ blog: " “It will be a very influential paper in the field,” scientist Daniel Ory [Chair of the NNPDF's Scientific Advisory Board] tells the Health Blog. Ory ought to know: he is the principal investigator on an NIH grant focused on getting cyclodextrin from the lab into NPC patients. He’s also working closely with NIH’s Therapeutics for Rare and Neglected Diseases program, which selected NPC and cyclodextrin as one of its pilot projects to attempt to repurpose drugs for use in rare diseases."

The NNPDF hosted a conference call on May 2 which addressed plans for an upcoming clinical trial using cyclodextrin in NPC patients. In addition to Dr. Ory, the conference call included information about the clinical trial from Dr. Forbes "Denny" Porter of the National Institutes of Health. To read the text of the conference call, visit this page on NPC research updates.

For a link to the WSJ Health Blog article, visit the NNPDF's NewsLine page.

Niemann-Pick Disease Research News

Here are several updates regarding Niemann-Pick Disease research:

Sandra Cowie, OT, Director-at-Large for the NNPDF, attended the 2011 WORLD Symposium in February. She reports that there were five sessions dealing with Niemann-Pick Disease (four on NPC and one on ASMD), and a poster presentations display area.

Ian Williams, Ph.D., attended the renowned Gordon Research Conference on lysosomal diseases. Dr. Williams is one of our NNPDF-funded postdoctoral fellows working on a research project titled Neurobiology of Purkinje Cells in NPC1.

We also have available a text document of the NPC updates presented during the May 2nd conference call/Webinar. Anyone who was not able to participate in the meeting, and those who would like to review the information presented, may want to access the PDF of that document. A recording of the meeting is also available for a limited time.

Please visit the NNPDF's Latest Research page for links to all the reports and resources mentioned above.

Thank you, Sandy and Drs. Williams, Ory, Porter, Patterson and Austin, for participating in these important updates for our families!

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.

Happy Mother's Day

Although the dates may differ from country to country, Mother's Day is celebrated all over the world, giving us the opportunity to honor those who have loved us from before we were even born.

Mother's Day is a wonderful occasion to pay tribute to not only mothers, but any of those women who have had a great impact on our lives -- a person whose love and care knows no boundaries, a person who does everything to keep her children safe, happy and secure in the knowledge they are loved.

Happy Mother's Day and {{{{HUGS}}}} to all our loving and beloved moms, grandmas, aunts and "honorary moms" who make our lives so warm and rich!

(And belated Happy Mum's Day to our friends in the UK, who celebrated last month.)

NPC Conference Call/Webinar with NIH on Monday, May 2

On Monday, May 2, 2011, the NNPDF will host a conference call/Webinar (online meeting) with key constituents and researchers, for all interested parties in the Niemann-Pick Disease Type C (NPC) community to learn more about the work being done at the NIH. Parents and extended family members, clinicians, researchers, caregivers, educators, and anyone with an interest in NPC is invited to participate.

Agenda topics for the conference call/Webinar are expected to include: NPC Observational Study at the NIH; development of NPC biomarkers; the NAC trial; use of a blood test for NPC diagnosis; and the current effort at TRND/NIH toward developing plans for a cyclodextrin trial at NIH. Presenters/experts we expect will participate include: Dr. Forbes “Denny” Porter, Dr. Daniel Ory, Dr. Marc Patterson, and Dr. Christopher Austin.

This meeting will begin at 4:00 pm Central Time (5:00 pm Eastern, 2:00 pm Pacific). International participants are invited, as well.

The meeting will be held using GlobalMeet’s “PGiMeet” interface. Participants will need access to a telephone for the audio portion of the call, as well as a computer to log in to a Web page to see any documents and graphics. Therefore, Internet access as well as access to a telephone will be required for full participation. (Those without access to a computer may participate in the audio portion only by telephone.)

Visit the NNPDF Web site for instructions on how to join the call/Webinar.

Good Things Happening at Genzyme

Sanofi-Aventis Prioritizes Enzyme Replacement Therapy and
Genzyme to be Honored by NORD

Sanofi-Aventis CEO Chris Viehbacher recently outlined the research and development strategy that led to the purchase of Genzyme Corp., and which will lead the company to further expand its partnerships and acquisitions.

Good news for Niemann-Pick Disease Type B patients -- Viehbacher announced that three Genzyme programs would be priorities in particular, one being Genzyme's enzyme replacement therapy for NPB.

Genzyme is also in the news being honored by the National Organization for Rare Diseases (NORD), the nonprofit organization representing 30 million Americans with rare diseases, at NORD's annual Partners in Progress Celebration on May 17. Genzyme will receive the first-ever Power of Partnership Award.

Genzyme's Boston Marathon Team paired up with an NNPDF Type B family, and the runners dedicated their race in honor of their partners, wearing their partners' photos on their shirts. The Power of Partnership Award will now be presented annually to individuals, organizations, or companies for outstanding acts of volunteerism demonstrating partnership with the rare disease patient community.

Visit the NNPDF NewsLine page for more information and links.

Congratulations, and Thank You to Genzyme!