National Niemann-Pick Disease Foundation

Latest Update on Planning for NIH Cyclodextrin Clinical Trial

2011-12-16T14:34:00.003-06:00

The NIH/TRND NPC team met again with representatives of the FDA on Tuesday, December 13, to discuss plans for the upcoming clinical trial of cyclodextrin, and we are pleased to be able to share the update on the process.

NNPDF members can be assured the foundation will continue to keep families up-to-date on information about plans for this and all clinical trial as details become available. Updates will be posted to the NewsLine page, as well as to the Facebook page and the listserv groups.

For the update on the December 13 meeting, and more information about TRND (Therapies for Rare and Neglected Diseases program) and the six pilot projects selected (including NPC), visit the NNPDF Web site.

International Niemann-Pick Disease Alliance Meets

2011-12-15T08:57:00.004-06:00

International Niemann-Pick Disease Alliance
Second NPD International Advocacy Meeting Held in Spain

The International Niemann-Pick Disease Alliance (INPDA) met November 13-14, in Toledo, Spain, to share updates and to reinforce and develop worldwide networks.

Representatives from patient support groups representing 11 countries (including those from the NNPDF and CCNNPDF) and pharmaceutical companies, along with clinicians and scientists from around the world, were in attendance.

Goals and objectives for the INPDA were set for the next two years with an emphasis on collaboration in family services and research.

The INPDA was established in 2009 to provide a forum for the exchange of information, experience and knowledge for the purpose of accelerating progress in the fight against Niemann-Pick Disease.

To see photos from the INPDA meeting, visit the NNPDF's NewsLine page.

11-11-11 Challenge Great Success! Contest Winners Announced

2011-12-06T08:31:00.001-06:00

The NNPDF's 11-11-11 Challenge was a resounding success, raising awareness of Niemann-Pick Disease of all types, bringing in over $20,000 in funds dedicated to essential NPD research!

The NNPDF's Board of Directors extends sincere thanks to the 35+ families who took on the 11-11-11 Challenge, asking their friends, families, neighbors and co-workers to each donate $11 to the cause.

We were amazed and grateful for the creativity and perseverance shown by our families and other supporters during the Challenge -- awareness videos, photo collages, Facebook pages, blogs, personal letters, face-to-face appeals, etc., all added up to the tremendous success of this group effort!

We also want to thank the hundreds of donors who each gave $11 and the many who gave larger amounts to help advance our Quest for a Cure!

The Bourgeault family of Charlotte, North Carolina, was the top fundraiser for Niemann-Pick Disease due to ASMD (Types A and B), conducting their challenge in honor of little Kaitlyn Bourgeault (NPA). Meghan Roberts of Massachusetts was the top fundraiser for Niemann-Pick Disease Type C (NPC), raising funds in memory of her cousin, Erin Roberts (NPC). Each winner will receive a $100 gift card to a national retailer.

More about the NNPDF's 11-11-11 Challenge

Melana Marie Elfe (1976 - 2011)

2011-12-05T08:53:00.004-06:00

Melana Marie Elfe
6/18/76 - 11/5/11

We have received very sad news that Melana Marie Elfe has passed away due to the effects of Niemann-Pick Disease Type C. Her final days were spent surrounded by family and friends.

Melana's life would seem too short to many, but those who were touched by her understood that the quality of existence far exceeds the quantity of time in which one lives. Her big smile, strong will and caring personally will be missed by family and friends. Family was the most important thing in Melana's life, always placing family before her own needs. Melana enjoyed reading, travelling, and big family meals.

Melana held a degree in Child Care Development and she loved taking care of children of all ages. She also served in the Army as a Supply Specialist for 3 years including time overseas.

Melana is survived by her loving son, Allan Elfe Jr.; husband Allan Elfe Sr.; parents Gene and Margaret Steele; grandmother Betty Luttrell; and other caring family members.

Melana's family thanks the Denver North Care Facility for the excellent care they provided during her declining health issues.

A Celebration of Life service was held on Friday, November 11, 2011, at Mountain View Mortuary, Colorado Springs, Colorado.

The family requests that memorials be made to the National Niemann-Pick Disease Foundation (NNPDF).

Daniel J. Flinton (2006 - 2011)

2011-11-11T11:48:00.005-06:00

Daniel Jonathon Flinton (NPC)
12/7/2006 - 11/11/2011

We've received the heartbreaking news that Daniel Jonathon Flinton has passed away due to Niemann-Pick Disease Type C (NPC).

Daniel was the beloved son of Jill and Faron Jon Flinton of Charlton, New York. Born on Pearl Harbor Day, Daniel died on Veterans Day. He was almost five years old.

Service information will be posted to the NNPDF Web site's NewsLine page when it becomes available.

Our deepest sympathy goes out to Daniel's family at this very difficult time.

Niemann-Pick Research Updates - Cyclodextrin Trial and Postdoc Fellowships

2011-11-07T16:33:00.005-06:00

We have received an update on the planning for a clinical trial with cyclodextrin for patients with Niemann-Pick Disease Type C (NPC).

Please visit the NNPDF's Cyclodextrin Trial page for a link to the complete update.

A photo of members of the NPC team at NIH is above.

In other research news, progress reports have been received from the postdoctoral fellows sponsored by the NNPDF. Visit the NNPDF's Fellowships page for links to the updates.

Three More Lives Lost to Niemann-Pick Disease

2011-11-04T16:03:00.005-05:00

We are deeply saddened to pass along news of three more recent deaths due to Niemann-Pick Disease.

Stephanie Francis Lawrence (above, left), age 24, of London, Ontario, Canada, passed away on October 9, due to the effects of Niemann-Pick Disease Type C (NPC). Mia Walts (above, center), passed away October 29, due to Niemann-Pick Disease Type A (NPA). And Gavin Lopez (above, right), age 7, of Little Elm, Texas, passed away October 30, due to NPC.

Our heartfelt condolences go out to the families and friends of these young people at this very difficult time.

For more information visit the National Niemann-Pick Disease Web site's NewsLine page.

Becky McGuire Joins NNPDF Board of Directors

2011-10-21T14:41:00.002-05:00

The National Niemann-Pick Disease Foundation is pleased to welcome Becky McGuire as a new member of the NNPDF Board of Directors. Becky is the cousin of Kelly Thompson (NPC), and has been active in fundraising and awareness activities for several years.

Visit the NNPDF's Meet the NNPDF Board page for more information about the foundation's board members and activities.

Take the 11-11-11 Challenge to Support the NNPDF!

2011-10-07T11:31:00.004-05:00

November 11, 2011, presents a unique opportunity to raise awareness and funding for Niemann-Pick Disease. Thus, we are announcing to all our families, friends and supporters…

The National Niemann-Pick Disease Foundation’s 11-11-11 Challenge!

Through October, Niemann-Pick Disease Awareness Month, right up until 11-11-11, we are asking you to reach out to your contacts, asking them for their support in our urgent Quest for a Cure for Niemann-Pick Disease.

To mark 11-11-11, we want you to ask your family, friends and co-workers to each donate $11 to the NNPDF.

These modest donations, added up, could give a significant boost to the foundation’s 2011 revenue goals. After all, who should be more willing to support this cause than the close family and friends who see on a daily basis the heartbreaks and struggles a family faces due to NPD?

Our goal for the “11-11-11 Challenge” is to get 111 people to get 11 of their contacts to each donate $11. This would ultimately add up to over $13,000 to be dedicated to research, designated by NPD type!

Further, we ask that you encourage your contacts to forward the “11-11-11 Challenge” on to their friends and families, spreading awareness of NPD and the plight faced by families who receive this diagnosis even further.

The top two fundraisers (one for NPC, one for ASMD/Types A & B) will receive a prize in the form of a $100 gift certificate to a national retailer. Visit the NNPDF's 11-11-11 Challenge page and the October Awareness page for more information.

2011-09-30T11:39:00.002-05:00

Urgent Equipment Request
Motion Table Needed

One of our NNPDF member families has immediate need of a Motion Table with Vibra-Glide, any condition.

"The Motion Table improves the results of therapy sessions and home programming by organizing the nervous system and allowing the user to respond appropriately to the given stimuli. By stimulating the vestibular system, The Motion Table is able to "level out" extreme behaviors caused by a variety of conditions."
http://www.redbarn-enter.com/newmotiontable.htm

Please contact the NNPDF if you have this equipment to share. Thank you!

Research Into Ebola and ALS Hold Interest for NPC Research

2011-09-06T16:30:00.004-05:00

Two recent publications from researchers based at MIT and Harvard report that the NPC1 protein is an essential factor in allowing infection by the deadly Ebola virus. The MIT team lead by Brummelkamp et al. used a genetic screen to identify mutant cells that were unable to support Ebola infection. They identified a panel of genes related to uptake into endosomes, most notably NPC1.

Cunningham and colleagues at Harvard used small molecule inhibitors to prevent Ebola infection, and in collaboration with Dan Ory at Washington University, demonstrated that the inhibitors were disrupting interaction between a viral protein and NPC1. These findings lay the groundwork for development of new drugs to prevent Ebola infection. The studies will spur further interest in the NPC1 protein, and could lead to new insights into its function.

Also, Northwestern University recently reported on a major breakthrough in research on Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's Disease. The findings could have ramifications for future research into Niemann-Pick Disease as well as other diseases with elements of dementia.

For links to more information about these research findings, visit the NNPDF's Latest Research Web page.

2011 NNPDF Family Conference Recap

2011-08-31T15:34:00.003-05:00

The 2011 National Niemann-Pick Disease Foundation's Family Support and Medical Conference, held recently in Norfolk, Virginia, was a resounding success! NNPDF families from the U.S., Canada, and several other countries came together to learn the latest in research and clinical care, and to share in supporting one another along the difficult journey presented by Niemann-Pick Disease.

Members of the NNPDF board and staff extend their greatest appreciation to the many volunteers, speakers, the staff of the Sheraton Norfolk Waterside Hotel, and others who went above and beyond the call of duty to make the conference such a wonderfully enriching experience.

Photos of the conference are now available on the NNPDF Web site: www.nnpdf.org. Fun photos include many taken at the Peninsula Pilots baseball game, the Saturday evening banquet and dance, conference sessions, and informal gatherings of families and friends.

Visit our special conference page for links to the photos/slideshows. Enjoy!

10th Annual Niemann-Pick Disease October Awareness Month

2011-08-29T15:14:00.004-05:00

2011 National Niemann-Pick Disease Awareness Month

The families of the NNPDF are gearing up for this year's October Awareness Month! Some have asked their state's governor or their city's mayor to proclaim October as NPD Awareness Month, some are planning elaborate fundraising events, and some are working up simple awareness projects.

Fundraising and awareness can be as easy as setting up a table at the high school football game, handing out brochures and newsletters, or selling PERSEVERE wristbands for $1 each.

Remember -- awareness drives donations, donations drive research, and essential research will find effective treatments and a cure for Niemann-Pick Disease!

Please consider what you, together with the help of your family and friends, can do to help raise awareness and funding during this October Niemann-Pick Disease Awareness Month!

Visit our October Awareness Month page to see what projects our families conducted during last year's Awareness Month -- you may find an idea that works for you. We will begin posting this year's October Awareness projects and events soon, so please be sure to let us know what you're "cooking up."

We are also happy to help you with ideas, press releases, "best practices," and much more. Please contact us and let us know how we can be of assistance!

Thank you for your support!

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NPC Research Updates

2011-07-01T15:52:00.006-05:00

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

2011-06-23T13:04:00.002-05:00

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

2011-05-19T09:36:00.003-05:00

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!

2011-05-16T11:48:00.004-05:00

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

2011-05-06T16:51:00.001-05:00

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

2011-04-28T16:39:00.002-05:00

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

2011-04-22T16:09:00.002-05:00

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!

Cyclodextrin Conference Call May 2, 2011

2011-04-20T16:21:00.005-05:00

NIH to Develop Clinical Trial Utilizing Cyclodextrin
Informational Conference Call Scheduled
Monday, May 2, 2011
5:00 pm Eastern Time, 4:00 pm Central Time, 2:00 pm Pacific Time

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. Forbes "Denny" Porter, a Senior Investigator at the NIH, and Dr. Daniel Ory, NNPDF Scientific Advisory Board Chair, are working collaboratively to bring this trial to our NPC patient community.

SAVE THE DATE
On Monday, May 2, 2011, 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. The call will begin at 5:00 pm Eastern Time, 4:00 pm Central Time, and 2:00 pm Pacific Time.

For more details, visit the NNPDF Web site.

NNPDF Family Support and Medical Conference - Save the Dates!

2011-04-18T14:58:00.001-05:00

19th Annual NNPDF Family Support and Medical Conference July 28 - 31, 2011

Watch your mailbox! Members of the NNPDF will be receiving a "Save the Date" card for the 2011 NNPDF Family Support and Medical Conference. The conference is being planned for Norfolk, Virginia, overlooking the harbor, at the Sheraton Norfolk Waterside Hotel, from Thursday, July 28 through Sunday, July 31.

Special Family Conference hotel rates include a choice of rooms: City View room for $89 per night ($101.57 with 13% taxes and $1.00 fee); or Harbor View room for $109 per night ($124.17 with 13% taxes and $1.00 fee).

When making your reservation, be sure to ask for the special NNPDF Family Conference block rate. Special conference rates include apron dates for those who wish to extend their stay in Norfolk. Special rates at the Sheraton are available from Sunday, July 24 - Tuesday, August 2 (departure on Wednesday, August 3), subject to availability.

Make your hotel reservations online today or call: Sheraton Central Reservations Desk (Toll Free): 888-627-8042 or the Sheraton Norfolk Waterside Hotel direct number: 757-622-6664. The deadline for reservations at the special rates is Monday, June 27th. Payment for one night's lodging is required to hold your room.

Visit our special Family Conference page for more conference details. Registration packets will be mailed out in May. In the meantime, please contact the NNPDF if you have any questions or if we can be of any assistance as you make plans to attend the NNPDF Family Conference.

NNPDF Research Updates

2011-04-13T14:31:00.006-05:00

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

2011-04-07T16:23:00.004-05:00

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

2011-04-05T14:00:00.004-05:00

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

2011-03-17T15:57:00.005-05:00

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

2011-03-09T10:06:00.004-06:00

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

2011-03-07T09:35:00.016-06:00

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

2011-03-04T15:51:00.005-06:00

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!

World Rare Disease Day is Monday, Feb. 28th!

2011-02-25T16:04:00.002-06:00

Reminder! -- this coming Monday, February 28, is World Rare Disease Day -- a day to honor and show support for all who are affected by a rare disease such as Niemann-Pick Disease.

Did you know that over 30 million Americans are affected by a rare disease? In the U.S., a rare disease is defined as any disease or disorder which affects fewer than 200,000 people at any given time.

Easy ways to show your support for World Rare Disease Day include wearing jeans to school or work, wearing and distributing PERSEVERE wristbands, or making a donation to support research into Niemann-Pick Disease.

Please visit our special World Rare Disease Day page to learn more about how you can participate in this worldwide observance. Thank you!

Visit Spain's NPC Site Today to Raise Funds for Niemann-Pick Disease

2011-02-17T09:36:00.009-06:00

Please take a moment right now to visit Spain's NPC organization's Web site. Actelion Pharmaceuticals (the maker of Zavesca/miglustat) will donate money to the nonprofit Spanish NPC foundation for each visit to the site today only.

Spain's time zone is several hours ahead of the U.S., so please make your visit today before 6 pm Eastern, 5 pm Central, and 3 pm Pacific Time.

Here is the link: http://www.niemannpickc.com/ When the page opens, click the little orange oval at the bottom right.

Thank you for your support of those who suffer from Niemann-Pick Disease worldwide!

For more information about Niemann-Pick Disease and World Rare Disease Day on February 28, please visit www.nnpdf.org .

Sale of Genzyme to Sanofi-Aventis

2011-02-16T11:40:00.003-06:00

Update from Jamie Manganello, Director, Patient Advocacy, at Genzyme:

Genzyme and sanofi-aventis have entered into an agreement under which sanofi-aventis will acquire Genzyme. Sanofi-aventis is a global, diversified healthcare company, headquartered in Paris, France and a leader in diabetes, oncology, innovative medicines, vaccines, consumer health care products and animal health. With this transaction, Genzyme will move into a new phase of our development, continuing our patient-focused mission and developing treatments that change the lives of people with rare diseases.

Sanofi-aventis and Genzyme have a shared vision for our future together and believe we will emerge even better prepared to serve you. The plan is for Genzyme to become a division of sanofi-aventis and global center of excellence for rare diseases. We will continue to serve the rare genetic disease community as we have done for the past 30 years, and I believe that sanofi-aventis will bring important new perspectives and new resources to this work.

Until the transaction closes, which is expected early in the second quarter of this year, both companies remain independent. Every aspect of how we work and our commitment to you remain the same.

In partnership with you, Genzyme’s mission has always begun and ended with the patient. Sanofi-aventis is making a significant investment in Genzyme because they value what we do, and our mission will remain unchanged.

As we work through the details, we will share our progress with you. Our future is dependent upon the support and involvement of patients and the treatment community, and we are eager to hear your thoughts and feedback as well.

Thank you for your continued support of Genzyme, and we look forward to updating you soon on our progress and path forward.

Visit the NNPDF's NewsLine page for a link to the press release from Sanofi-Aventis and Genzyme.

Show Your Support for Those Affected by Rare Diseases Such as Niemann-Pick

2011-02-14T14:21:00.007-06:00

Monday, February 28, 2011, is World Rare Disease Day

Easy ways to show your support for all affected by rare diseases, including Niemann-Pick Disease:

•Share the Facebook event page from the NNPDF Awareness Facebook Group page highlighting Feb. 28th, 2011, as WORLD Rare Disease Day.

•Sign up for the RSS feed for this blog ("Subscribe via Feedburner") to receive an email notice when the blog is updated.

•Use "Good Search" as your internet search engine. Each search conducted triggers a one cent donation to the NNPDF -- all those pennies added up to $250 last year!

•Add eBay Giving Works (Mission Fish) to your eBay seller's site and make a donation to the NNPDF for each sale made - you set the percentage.

•Support the 10th Anniversary of Spain's NPD Foundation (Fundacion Niemann Pick de Espana) by visiting their Web site on February 17th, as part of a fundraising effort based on the number of site visitors.

•Wear jeans to school or work on Monday, February 28th, in support of the Global Genes Project.

•Share your rare disease experience with others. Post links to the NNPDF site and the NORD site on your Facebook page to raise awareness of the plight of those affected by rare diseases.

•Make a meaningful impact by writing letters to your congressional representatives asking them to join the Rare and Neglected Diseases Congressional Caucus. The Caucus will focus attention on rare diseases and related needs such as research.

•Distribute PERSEVERE wristbands to your family and friends to wear in a sign of solidarity in the battle against Niemann-Pick Disease and all rare diseases.

Visit the World Rare Disease page at http://www.nnpdf.org/ for more details and ways to show your support of those affected by rare diseases.

NNPDF Board Meeting Held in Milwaukee

2011-02-10T10:53:00.005-06:00

What happens in Milwaukee, stays in Milwaukee!

Members of the NNPDF's Board of Directors braved blizzards and other inclement weather to travel to Milwaukee for the foundation's 2011 Annual Meeting February 4 - 6. The weekend was jam-packed with meetings of the board and committees, making the most of the opportunity to meet face-to-face. Results of the work of 2010 were discussed and evaluated, and plans were laid for a very busy year ahead.

Though lots of business was conducted over the course of the three days, a few recent birthdays were celebrated over dinner. Susan Green, Sandra Cowie and Karen Quandt were honored with sombreros and slices of cake. Feliz cumpleanos!

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

Genzyme Completes Sale of Diagnostics Business

2011-02-09T16:10:00.003-06:00

Genzyme Completes Sale of Diagnostics Business to Sekisui Chemical Co.
Agrees to Sell Pharmaceuticals Business to International Chemical Investors Group

Genzyme announced that it has completed the sale of its diagnostic products business to Sekisui Chemical Co., Ltd.

Sekisui purchased substantially all of the assets of the business, including diagnostic product lines and technologies. Genzyme’s approximately 575 employees were offered similar positions with Sekisui, which plans to maintain operations in each of the business’s current locations. In connection with the sale, Sekisui also entered into a supply agreement to provide Genzyme with certain enzymes needed for the production of Cerezyme® (imiglucerase for injection).

Genzyme also announced that it has entered into a purchase agreement under which an affiliate of International Chemical Investors Group (ICIG) will acquire Genzyme’s pharmaceutical intermediates business.

For a link to the complete press release, visit the NNPDF's NewsLine page.

NNPDF Annual Board Meeting

2011-02-03T15:11:00.004-06:00

Feb. 4 - 6, 2011
Milwaukee, Wisconsin

The NNPDF Board of Directors will gather this weekend in Milwaukee for the foundation's annual meeting, to recap the successes and lessons of the year past, and to finalize plans and reenergize for the year to come.

The board will welcome board member Kathy Lane to her first official meeting in this new role. Kathy was recently featured on Newzjunky.com, in an article about her involvement with the NNPDF and with raising funds and awareness for Niemann-Pick Disease. Two of Kathy's grandchildren are affected by Niemann-Pick Disease Type B. Visit the NNPDF's NewsLine page for a link to the article.

Meet other members of the NNPDF Board here. Please feel free to contact any board member or the NNPDF Central Office at any time if you have questions or suggestions, or if you need more information about any aspect of Niemann-Pick Disease of any type.

Gordon Conference on Lysosomal Storage Diseases

2011-01-28T16:04:00.006-06:00

January 23-28, 2011
Galveston, Texas

Today marks the conclusion of the first-ever Gordon Research Conference on lysosomal storage diseases. This extremely prestigious conference of the scientific community featured topics including the basic science of lysosomal biology and function, relationships of lysosomal diseases to other neurological diseases, pathogenic cascades, biomarkers, recent advances in therapy, and clinical trials and design.

Niemann-Pick Disease is one of over 50 known lysosomal storage diseases. The NNPDF is pleased to have been able to sponsor attendance at the conference, helping to ensure that promising research fellows are able to participate and share in the knowledge bank at this world-renowned gathering.

The Gordon Research Conferences (GRC) is a non-profit organization managed by and for the benefit of the scientific community, providing an international forum for the presentation and discussion of frontier research in the biological, chemical, and physical sciences, and their related technologies.

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

Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials

2011-01-27T15:17:00.004-06:00

A note from Genzyme - January 2011:

Genzyme is continuing efforts to develop recombinant human acid sphingomyelinase (rhASM) for the potential treatment of the non-neurological manifestations of acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). After completing the Phase 1 clinical trial in 2009, we engaged regulatory authorities in discussion about plans for a Phase 2 clinical trial and conducted additional preclinical research in 2010. This regulatory dialogue is ongoing. We remain committed to the development of a therapy for ASMD and will keep the community informed once our regulatory discussions are complete and we can confirm a start date for the Phase 2 clinical trial for Niemann-Pick B patients.

We are pleased to note that an abstract from the Phase 1 clinical trial was selected for a podium presentation by Dr. Margaret McGovern at the 7th annual lysosomal disease network's WORLD conference, to be held in Las Vegas, February 16-18, 2011.

Genzyme Corporation
500 Kendall Street
Cambridge, MA 02142
www.genzyme.com

(To learn more about Niemann-Pick Disease, visit www.nnpdf.org. To learn more about these clinical trials, please visit the National Niemann-Pick Disease Foundation's Enzyme Replacement Therapy page.)

New Test Promises to Find Fatal Diseases Before Conception

2011-01-25T11:30:00.003-06:00

Test Could Determine if Parents Are Carriers for Genetic Diseases

A new DNA test has been developed to identify carriers of 580 of the most severe inherited childhood diseases. Announced in the journal Science in Translational Medicine, the test uses genetic sequencing to identify recessive mutations.

The new test could be used before a couple decides to become parents. Currently, preconception testing is recommended for just a few diseases, such as Tay-Sachs and cystic fibrosis, and can cost as much as $2,000.

According to abcnews.go.com, this new carrier screening may cost less than $400, and may become available in the near future. Clinical work will be done at Children's Mercy Hospital in Kansas City, Missouri.

The test will likely be a blood test and later a simple swab of the cheek. Egg and sperm banks may be the first industry to adopt the testing to screen potential donors.

For a link to more information, including the ABC News article, visit the NNPDF's Latest Research page.

Rare Disease Day - February 28, 2011

2011-01-21T15:43:00.005-06:00

"Alone we are Rare,
together we are Strong."

The National Organization for Rare Diseases (NORD) will celebrate Rare Disease Day on Monday, February 28.

This year’s worldwide theme is “Rare but Equal” which will highlight “Rare Diseases and Health Inequalities.”

A disease or disorder is defined as rare in the USA if it affects fewer than 200,000 Americans at any given time. Thirty million Americans are affected by rare diseases, including those affected by Niemann-Pick Disease.

Join hands with others around the world, and get involved in raising awareness of rare diseases. Please visit the NNPDF NewsLine page for more information and links to videos and stories of those whose lives are affected by rare diseases.

Guy Michael Borsetti Heikila

2011-01-18T09:30:00.003-06:00

Guy Michael Borsetti Heikila
(NPC)
4/8/79 - 1/13/11

We are extremely sad to report that Guy Michael Borsetti Heikila, age 31, of Milford, New Hampshire, passed away January 13, due to Niemann-Pick Disease Type C.

Survivors include his parents, Steven and Marie J. (Corriere) Heikila of Nashua, NH, and Michael and Jane Borsetti of Sebago, ME. Also, his brother, Gunnar Borsetti; four sisters -- Moriah Borsetti, and Stephanie, Lauren and Rachel Heikila; maternal grandmother, Ida Corriere; paternal grandparents, Howard and Ann Bray; one niece, Sophia Savard; and several aunts, uncles and cousins.

The funeral will be held at Christian Bible Church, 205 Manchester St., Nashua, NH, on Tuesday, January 18, 2011, at 11:00 AM. The family suggests, in lieu of flowers, that donations may be made in Guy's loving memory to: The National Niemann-Pick Disease Foundation (NNPDF), P.O. Box 310, Fort Atkinson, WI 53538, or online at http://www.nnpdf.org/.

Please visit the NNPDF Web site's NewsLine page for more information.

Adam James Edward Reimer

2011-01-14T09:56:00.003-06:00

Adam James Edward Reimer (NPC)
Dec. 30, 1986 - Jan. 11, 2011

With great sadness, we pass along news of the death of Adam James Edward Reimer, age 24, due to the effects of Niemann-Pick Disease Type C.

Adam is survived by his parents, Don and Maggie Reimer of Cultus Lake, British Columbia, his brother, Ryan (Margo) Dear, and his sister, Erin Reimer.

After a long and courageous battle with NPC, surrounded by his family, his best friend Ian Fournier, Ian's fiance Felicia, and his other "big brother" Steve Hiscoe, Adam passed away in the early hours of January 11, 2011.

A 2005 graduate of Sardis Senior Secondary School, Adam played hockey in the Chilliwack Minor Hockey league and hockey was his life. Everyone who knew Adam realized that they'd better bone up on the Canucks before they went to see him. Adam loved to dance and had a wicked sense of humor. His smile would light up the room.

We extend our heartfelt sympathy to Adam's family and many friends in their loss.

In lieu of flowers, memorial donations may be made to the Canadian Chapter of the National Niemann Pick Disease Foundation (CCNNPDF).

For more information about Niemann-Pick Disease, please visit the National Niemann-Pick Disease Foundation (NNPDF) at www.nnpdf.org.

Fishing for Charities Tournament Trail Featured in Online Fishermen Magazine

2011-01-12T11:43:00.007-06:00

The Online Outdoorsmen magazine, Online Fishermen, recently published a story about Fishing for Charities, a fishing tournament trail which raises funds for charitable causes, including Niemann-Pick Disease. Dwayne Linkous, father of 14-year-old Raiden Linkous (NPC), coordinates the tournament trail with the help of some good friends and fishing buddies.

Check out the story on the Online Fishermen (scroll to pages 46-47) or visit the NNPDF's NewsLine page for a link to a JPG of the article.

The NNPDF will be the recipient of funds raised on May 28, 2011, at Claytor Lake, Virginia, in honor of Raiden Linkous (NPC).

For full details including registration information, rules, etc., please visit www.fishingforcharities.net.

"Here for You Always" Special Music Video Project

2011-01-05T15:29:00.003-06:00

Singer-songwriter Rachel Taylor, cousin of NNPDF member Lorna Tyrrell (mom of Naomi, NPC), has a song on her new CD titled, "Here for You Always."

The song's message is so appropriate for our loved ones with Niemann-Pick Disease that we decided to create a video/slideshow montage of the song set to photos of our NNPDF members, and we are asking for your help!

For this project, we are gathering a few choice photos of children and adults with Niemann-Pick Disease together with their parents, grandparents, siblings, friends, classmates, pets, etc., to illustrate the song's lyrics of love, support, and nurturing relationships.

For all the details including links to the song, the lyrics, and a photo release form, please visit our special "Here for You Always" Web page at the NNPDF's Web site.

We are eager to get this project underway, so please respond by Valentine's Day, Monday, February 14. Thank you!

Time is Short - Make a Year-End Gift Today

2010-12-30T14:25:00.003-06:00

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

Happy New Year from the NNPDF!

2010-12-29T10:59:00.008-06:00

During these final days of 2010, we at the National Niemann-Pick Disease Foundation give thanks for individuals like you who are vital to fulfilling our mission.

Thank you for being part of our efforts to offer support to families and to further research into treatments and a cure for Niemann-Pick Disease!

We'd like to humbly remind our generous supporters that a year-end gift to the NNPDF can reduce one's income tax obligation while providing meaningful support for the work of the foundation and offering the gift of hope for all those suffering from NPD.

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.

If you'd like to designate your gift in honor of a loved one, the NNPDF will gladly send out a card to the honoree acknowledging your gift.

One item of special note -- a late-breaking tax measure allows IRA year-end donations until January 31st. This key charitable tax break took effect December 17th, allowing those age 70 1/2 or older to make tax-free 2010 year-end charitable gifts of up to $100,000 from their IRA accounts up until January 31st, 2011.

Please visit our Web site for more information about philanthropic year-end gift ideas, and as always, we invite you to contact us with any questions.

With deepest gratitude, we thank you for your continued support, and we send our most sincere wishes to you and your family for a wonderful holiday season and a healthy, happy New Year!

Season's Greetings!

2010-12-23T11:25:00.003-06:00

As 2010 draws to a close, we at the National Niemann-Pick Disease Foundation give thanks for all who have supported our foundation's vital mission throughout the past year.

Thank you for being part of our efforts to offer much-needed support to families struggling with the challenges of Niemann-Pick Disease, and to further research into treatments and a cure for NPD!

Through your generosity we have been able to offer the gift of hope for all those affected by Niemann-Pick Disease, across the country and even around the world.

With sincere gratitude, we send our Best Wishes to you and your family for a wonderful Holiday Season and a happy, healthy New Year filled with Peace, Joy and Love!

Holiday Gifts & Year-End Giving to Support NNPDF

2010-12-20T13:23:00.005-06:00

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!

2011 Calendars Make Great Gifts!

2010-12-08T08:41:00.005-06:00

Choose Playful Puppies or Beautiful Scenic Paintings

Still in time for holiday gift-giving, these very special wall calendars offer a choice of two designs: playful puppies or gorgeous scenic paintings. Your purchase of these calendars brings hope to the children and families who face the challenges of Niemann-Pick Disease, as $5 from the sale of each calendar supports the NNPDF.

Treasuring Each Day: Working Together to Cure Niemann-Pick Disease is full of playful puppies and sayings of hope and inspiration. Love Always Hopes is a collection of New England Artist Don Greer's works, compiled in honor of his granddaughter's fight against Niemann-Pick Disease (seven-year-old Naomi Tyrrell, NPC). Along with Mr. Greer's beautiful paintings, the calendar features inspirational Bible verses on each month's pages

A great gift idea for teachers, family and friends, the calendars are $10 each, plus $2 shipping for one, $3 shipping for two, $5 shipping for three or four. Free shipping on orders of five or more calendars. (Approximate size is 17 inches by 11 inches when open.)

Order directly from the calendars' creator, Lorna Tyrrell. Visit http://www.nnpdf.org for more details and the order form.

Oxidative Stress in Niemann-Pick Disease Type C

2010-11-19T15:20:00.003-06:00

Molecular Genetics and Metabolism recently published a new article titled, "Oxidative stress in Niemann-Pick disease, type C," from authors Fu R, Yanjanin NM, Bianconi S, Pavan WJ, Porter FD.

The article is summarized as follows:

Oxidative stress is caused by an imbalance between the production of reactive oxygen and a biological system's ability to detoxify the reactive intermediates or easily repair the resulting damage. Increased oxidative stress has been reported in human NPC1 mutant fibroblasts and in tissues from Npc1 mutant mice. However, oxidative stress in NPC patients has not been established. This study demonstrated increased oxidative stress in NPC patients.

Blood samples from 37 children and adults with NPC were tested. Compared to control values, the NPC samples showed significant decreases in both the fraction of reduced coenzyme Q10 (CoQ10) and Trolox equivalent antioxidant capacity (TEAC). Reduced CoQ10 functions as an antioxidant protecting cells from oxidative damage. Trolox is used as a reference substance to measure the combined antioxidant capacity in biological specimens. Both findings are consistent with increased oxidative stress in NPC. However, supplementation with CoQ10 was not effective in correcting the decreased fraction of reduced CoQ10. Demonstration of increased oxidative stress in NPC patients provides both a rationale and the biomarkers necessary to test the efficacy of antioxidant therapy in NPC.

Visit the NNPDF's Latest Research page for a link to the complete article or for more information about Niemann-Pick Disease.

Future Blood Test for Niemann-Pick C

2010-11-04T13:20:00.004-05:00

Diagnosis of NPC May Soon be Done Via Blood Test

Niemann-Pick Disease Type C (NPC) may soon be diagnosed with a simple blood test, according to a report from the Washington University School of Medicine, St. Louis, Missouri, published recently in Science Translational Medicine.

Dr. Dan Ory of Washington University, and the chair of the NNPDF's Scientific Advisory Board (SAB), is one of the report's authors, along with Dr. Forbes "Denny" Porter, of the National Institutes of Health (NIH), also on the NNPDF's SAB; and Nicole Yanjanin, R.N., NIH, and on the NNPDF's Board of Directors; and others.

Visit Newswise for the complete story and video clip, which features Dr. Ory along with Nancy and Art Sullivan, parents of Karen Sullivan, who passed away from NPC in 2004, at the age of 33.

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

Online Auction for Niemann-Pick Disease

2010-10-25T10:24:00.008-05:00

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

2010-10-14T16:45:00.002-05:00

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.

One Child's Journey through Niemann-Pick Disease

2010-10-07T14:55:00.006-05:00

One Child’s Story Through Niemann-Pick Disease Type C

Stacey Lynne Vorpahl (NPC)
January 3, 1985 – October 9, 2004

In loving memory of Stacey and all the other precious children lost to NPD, and in honor of those still struggling, please join with us in our Quest for a Cure. Follow the link to view Stacey's story, as told by her parents in text and photos.

10 – 10 – 10 Challenge
Please Help Raise Awareness for Niemann-Pick Disease

Meet the NNPDF's 10-10-10 Challenge and take at least one simple action on October 10,2010, to spread the word about this devastating disease.

Thank you for your help and support, on 10-10-10 and always!

2011 Puppies Calendar Now Available!

2010-10-05T10:13:00.003-05:00

Get ready for 2011 with the latest edition of the darling Puppies Calendar, "Treasuring Each Day!"

Featuring playful puppies and sayings of inspiration and hope, this very special wall calendar is dedicated to the children and families who struggle every day with the challenges of Niemann-Pick Disease (NPD).

Get a jump on your holiday shopping by ordering ten calendars on 10-10-10, supporting the NNPDF's program of research and important Family Support Services at the same time!

Your purchase of these calendars gives hope to families affected by NPD as funds are raised for essential research into treatments and a cure. Turning the page each month, we are reminded that we are in a race against time to find treatments and a cure for all children and adults with NPD.

NNPDF member Lorna Tyrrell created the Puppies Calendars in honor of their seven-year-old daughter (who loves puppies and bunnies and all things cuddly!), Naomi (NPC). Please order calendars directly from the Tyrrells using the order form available here.

Thank you for your support of all those affected by Niemann-Pick Disease, on 10-10-10 and every day!

Take the 10-10-10 Niemann-Pick Disease Challenge!

2010-10-01T14:51:00.003-05:00

Intriguing dates such as 10/10/10 don’t come around all that often, and it seems fitting to proactively observe this once-in-a-lifetime occasion, especially since it falls during October National Niemann-Pick Disease Awareness Month!

Participating in the NNPDF Central Office Challenge and showing support for the many families coping with Niemann-Pick Disease is one simple way you can mark the day by making a positive difference. With just a few minutes of your time, you can help raise awareness and funding for all whose lives are affected and cut short by Niemann-Pick Disease.

Our 10-10-10 Challenge is to get 300 people to share information about Niemann-Pick Disease with 10 other people, via email, Facebook, Twitter, or other means (even via the hospitable old-fashioned way, face-to-face!).

Spreading the word about this rare disease is key to raising the essential funding for research which will find the treatments and cure we all work fervently toward, and to providing important family services for those who rely on us. Please, will you help us meet our goal? Click here for six easy ways you can help us meet this October Awareness Month challenge!

One decidedly FUN way to participate in October Niemann-Pick Disease Awareness Month is to shop the Online Auction! Bidding is now open! Bid high, bid often!

It's also not too late to donate items to the auction. Check out this page for more details, or contact the NNPDF Central Office.

As always, Thank You most sincerely for the continued love and support you give the families who deal with the challenges and heartbreak of Niemann-Pick Disease!

FDA Grants Clearance for Experimental Intrathecal Administration of Cyclodextrin

2010-09-29T15:27:00.004-05:00

The FDA has granted clearance of an Investigational New Drug (IND) application for administration of Hydroxypropyl Beta Cyclodextrin (cyclodextrin) into the central nervous systems of two patients with Niemann-Pick Disease Type C.

The cyclodextrin will be given intrathecally (into the space under the arachnoid membrane of the brain or spinal cord), first via lumbar injection, and then into the brain’s ventricle system. Children’s Hospital & Research Center of Oakland, California, issued a press release, which can be accessed from the NNPDF's NewsLine page.

The NNPDF would like to note the following regarding cyclodextrin:

1. Cyclodextrin has shown promise as a potential therapeutic in animal trials. However, issues of toxicity have also arisen.
2. The NNPDF is aware that cyclodextrin is being used on a single-patient Investigational New Drug (IND) basis in the U.S. and in Brazil.
3. More research is needed to understand issues related to drug delivery, efficacy and safety.
4. The NNPDF will keep the NPC community apprised of developments regarding cyclodextrin.

Amy Dockser Marcus published this related article in her Wall Street Journal Health Blog on September 23.

For more information about cyclodextrin, cyclodextrin's orphan drug designation, a glossary of terms, and links to the FDA, please visit our cyclodextrin page.

Cassandra Phillipa Stallard

2010-09-23T15:15:00.003-05:00

Cassandra Phillipa Stallard (NPC)
May 30, 1989 - September 21, 2010

We are very sad to learn of the death of 21-year-old Cassie Stallard due to the effects of Niemann-Pick Disease Type C (NPC).

According to Cassie's mom, Trish, Cassie died peacefully in her sleep after a day enjoyed strolling on the beach and a trip to a favorite coffee house.

All our sympathy to the Stallards and their extended family and friends in their loss.

To learn more about Niemann-Pick Disease, please visit the National Niemann-Pick Disease Foundation Web site.

Online Auction Site LIVE! Your help is requested!

2010-09-22T16:46:00.003-05:00

The NNPDF's Niemann-Pick Disease Awareness Online Auction site is now live and operational!

Please visit the NNPDF October Awareness Month Online Auction site now and see what we are cooking up for October 1st, when opening bids will be accepted.

New auction items are being added daily, and you can begin window shopping today! Some exciting items already posted include an autographed Brett Favre Minnesota Vikings jersey, a handmade quilt, authentic Chinese wall scrolls and masks, a DVD of the Super Bowl Champion New Orleans Saints, and gift cards from R.E.I. and Target.

The list is growing daily as families around the U.S. and Canada are busy making, collecting and donating items for this important event which will raise funds in support of family services programs and essential research into Niemann-Pick Disease.

Please Help!
Your participation is needed to help make this auction the huge success we know it can be!

Please think about what you and your family might donate to the auction. Popular auction items include handmade crafts and gifts, gift cards to nationwide retailers or service providers (restaurants, department stores, home improvement stores, hotels, bookstores, carpet cleaning, etc.), sports memorabilia, collectors’ items, vacation packages, tickets to sporting or theater events, jewelry, artwork, tools, etc.

Items may be donated by an individual/family, or donations may be solicited from your area businesses.

(Please, no glass or fragile items that may be damaged in shipping, no alcohol or firearms, and nothing that cannot be shipped or for which shipping costs would be prohibitive.) (Shipping costs will be the responsibility of the buyer, unless the donor elects to donate shipping costs.)

Auction to Feature State-Themed Baskets
One special feature of the NNPDF auction will be state-themed “baskets,” or “collections,” with items unique to a state or region. Examples might be non-perishable food items representative of a state or region, regional-flavor clothing or jewelry, professional or college sports memorabilia or tickets, souvenir/collectors’ items, etc.

How to Donate
Please let us know ASAP what you plan to donate for the auction, so we can post it to the site. Please complete the form available on the NNPDF Web site and send the form, together with a photo (jpg format if possible), to NNPDF Board Member/Development Committee Co-Chair Ryan Kelly.

Please do NOT send auction items to the NNPDF; items will be shipped directly from the donor to the winning bidder at the close of the auction (October 31st), with the buyer responsible for the cost of shipping. (Donors may choose to cover the cost of shipping, particularly for small or lightweight items which cost little to ship.)

Spread the Word!
Please email the link to the NNPDF October Awareness Online Auction Site to all your friends, family and acquaintances so they can get in on the fun and excitement, as well! This is a fabulous opportunity to raise significant funds for the Quest for a Cure, but we need your help in getting the word out.

Contact Us
Please feel free to contact the NNPDF Central Office with any questions you may have about the Online Auction. We look forward to working together with you on this exciting opportunity! Together, we can make a difference!

October is Niemann-Pick Disease Awareness Month!

2010-09-17T14:03:00.006-05:00

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

2010-09-14T14:43:00.003-05:00

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!

Sarah Elisabeth Glassman

2010-08-31T10:41:00.004-05:00

Sarah Elisabeth Glassman (NPA/B)
Jan. 30, 2007 - Aug. 30, 2010

With great sadness we pass along word of the death of Sarah Elisabeth Glassman, age 3 years, from the effects of Niemann-Pick Disease Type A/B (ASMD).

Sarah is survived by her parents, Aaron and Valerie Glassman of Norfolk, Virginia; her brother, Zachary; grandparents Dr. Myron and Nanci Glassman and Brenda Bowling; and many aunts, uncles, cousins, friends and admirers.

"Loved by all who knew her, delicate and tiny Sarah was an amazing inspiration. It was an honor to be with this little angel. She taught everyone the true value of each day on earth and gave us all so many happy memories."

In lieu of flowers, memorials can be made to the Edmarc Hospice for Children (www.edmarc.org) or the National Niemann-Pick Disease Foundation.

Aaditya Michael Dasgupta

2010-08-30T09:29:00.005-05:00

Aaditya Michael Dasgupta (NPC)
Feb. 15, 2001 - Aug. 12, 2010

We sadly inform you of the death of Aaditya Michael Dasgupta due to Niemann-Pick Disease Type C (NPC), on August 12.

Nine-year-old Aaditya is the son of Aaditya Ravi Dasgupta and Tasneem Tankiwala of India, and the nephew of NNDPF member Duriya Lakdawala of Michigan.

A funeral mass was held on Saturday, August 14.

Our deepest sympathy to Aaditya's family and many friends.

To learn more about Niemann-Pick Disease and to join our Quest for a Cure, please visit the National Niemann-Pick Disease Foundation's Web site.

Carnival Raises Funds in Memory of Karen Sullivan

2010-08-27T16:37:00.008-05:00

Jason, Sarah and Abby Sullivan, ages 10, 7 and 5, respectively, organized and held a backyard carnival to raise funds for the NNPDF in memory of their aunt, Karen Sullivan, who died in 2004 as a result of Niemann-Pick Disease Type C (NPC).

After several weeks of planning, the children made signs and posters to advertise and invite their friends and neighbors to come for games, prizes, and food.

The whole family got involved as one grandma made funnel cakes and another ran the bean bag toss, while the two grandpas ran the golf game and served as the event photographer. The late-summer heat wave even broke in time for a perfect evening, and the neighborhood was very supportive, raising almost $500 for the fight against NPD!

Jason, Sarah and Abby are the children of Kevin and Jean Sullivan and the grandkids of Art and Nancy Sullivan of Chesterfield, Missouri. Nancy recently retired from the NNPDF Board of Directors and Art serves on the NNPDF's Finance Committee.

Thank you, Jason, Sarah and Abby, and the entire Sullivan family!

To see more photos from the carnival, and to read about other family fundraisers advancing the Quest for a Cure, visit the NNPDF's Upcoming Events page.

NNPDF~ Family Conference 2010 at OneTrueMedia.com

2010-08-17T09:24:00.001-05:00

Make an on-line slide show at www.OneTrueMedia.com

Princess Monica Celebrates First Birthday!

2010-08-13T16:31:00.007-05:00

The 18th Annual National Niemann-Pick Disease Family Support and Medical Conference was held August 5th through 8th, in Toronto, Canada.

One of many highlights of the conference was the "Princess Party" held in honor of the first birthday of Monica Taillefer, daughter of Heather Patenaude-Taillefer and Simon Taillefer of Quebec.

The party was complete with a tiara for Princess Monica, crowns for all the kids, cake, of course, and special appearances by Cinderella and Snow White.

For more conference details and a link to see dozens of great photos from the event, visit the NNPDF NewsLine page.

Promising Therapies for NPC

2010-07-09T11:49:00.005-05:00

"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.

Emily Jane Hrbacek

2010-07-01T15:59:00.004-05:00

Emily Jane Hrbacek
July 15, 1999 - July 1, 2010

It is with great sadness that we pass along word of the loss of Emily Jane Hrbacek due to Niemann-Pick Disease Type C. The beloved daughter of Scott and Laura Hrbacek of Eureka, Missouri, Emily was just shy of her 11th birthday.

We received this message from Emily's family:

This morning Emily passed away peacefully and is no longer suffering. Emily passed from the complications of Niemann-Pick Disease. Emily put up a long fight but in the end now the fight is over. Emily had the most beautiful eyes and a smile that melted everyone's heart. Emily was the best child that God could have given us and she will be missed by many. God bless our angel.

A visitation will be held at Most Sacred Heart Church, 350 East Fourth Street, Eureka, on Sunday, July 4th, from 3:00 - 8:00 p.m. Funeral mass will be at 10:00 a.m. on Monday, July 5th, also at Most Sacred Heart, with burial at Holy Cross Cemetery.

Our deepest sympathy to Emily's parents, family and many friends.

To learn more about Niemann-Pick Disease, visit the National Niemann-Pick Disease Foundation (NNPDF) Web site.

NNPDF Announcement

2010-06-30T14:26:00.004-05:00

A message from NNPDF Board Chair Karen Quandt:

Cate Walsh Vockley, the National Niemann-Pick Disease Foundation’s Coordinator of Education, Referral and Advocacy, has resigned her position with the NNPDF as of June 30, 2010. The NNPDF Board of Directors and the Central Office will be addressing all inquiries to assist our family membership and work to ensure that there is no interruption of family support, referrals and services. Please contact the Central Office at 1-877-287-3672 or email nnpdf@nnpdf.org.

Cate has been a passionate advocate at the NNPDF for the patients and families affected by all types of Niemann-Pick Disease for the past six years. She has been an integral part of our family support services and has helped many families navigate through the uncharted emotional and medical maze that goes along with a rare disease. We will miss her and we wish her well in all her future endeavors.

Thank you, Cate, for your dedicated service to help make the foundation a strong and reliable place for families to seek assistance and advice in our quest to care for our family members and to find a treatment or cure for Niemann-Pick Disease.

Karen Quandt
NNPDF Chair

Cate's message to the membership of the NNPDF:

Dear NNPDF Friends,

My contract with the Foundation will end as of June 30, 2010. I have enjoyed my work with the Foundation and especially with the many families with whom I have interacted over the years. Dealing as we have, with the many sensitive issues that affect families of those with chronic, debilitating conditions, has created connections that will stay with me forever.

I will continue to support the goals and mission of the Foundation, and pray that the effective treatment and cure you seek will come soon. I will be continuing my work in the field of rare disease recognition and therapeutics, but with a different focus for now. I do hope to see some of you in the future, at meetings or gatherings that support common goals.

I wish you all the best!

Kind regards,
Cate

Cate Walsh Vockley, MS, CGC
Senior Genetic Counselor
Division of Medical Genetics
Children's Hospital of Pittsburgh
One Children's Hospital Drive
4401 Penn Avenue
Pittsburgh, PA 15224
Tele: 412-692-7349
Fax: 412-692-7073
catherine.walshvockley@chp.edu

Any questions or inquiries may be directed to the NNPDF Central Office.

Brooke Lynn Thomas

2010-06-18T08:44:00.007-05:00

Brooke Lynn Thomas
March 5, 2001 - June 16, 2010

With very heavy hearts, we inform you of the passing of little Brooke Thomas, 9-year-old daughter of D.J. and Vicki Thomas of Blair, Nebraska.

Despite the challenges of Niemann-Pick Disease Type C, Brooke was able to complete the school year. She subsequently developed a case of pneumonia which she was unable to overcome.

Despite their heartbreaking loss, the family is taking comfort in the knowledge that prior to her unexpected death, Brooke was a happy, carefree and engaged little girl who enjoyed life.

A visitation and celebration of Brooke's life will be held on Sunday and Monday, June 20 and 21. Please visit the NNPDF NewsLine page for more details.

Our deepest sympathy goes out to Brooke's family and friends in their loss.

NNPDF Families Working to Raise Awareness and Find a Cure

2010-06-17T09:48:00.004-05:00

The summer fundraising season is upon us, and many NNPDF families are pulling out all the stops to raise awareness and funds for the fight against Niemann-Pick Disease.

Of course, many of our families do fundraising year-round, but the warmer weather lends itself to many types of outdoor fundraisers that bring out the crowds looking for something fun to do while supporting a worthy cause.

This Saturday, June 19, golfers will compete in the Alex and Laura Vaughan Memorial Golf Tournament in Durham, Ontario, to benefit the Canadian Chapter of the NNPDF. Next Friday, June 25, an Evening of Jazz in Vaughan, Ontario, will benefit the Life for Luke (Liegghio) Foundation.

The weekend of June 26-27 will see four events benefitting the NNPDF. Saturday, June 26, is the date for this year's Hanover (Massachusetts) 5K Road Race in memory of Erin Roberts, as well as the Golf "FORE" Stacey (Vorpahl) Memorial Classic event in Cold Spring, Wisconsin.

On Sunday, June 27, the Perugini family will host the Marcello and Matthew Perugini Memorial Walk (Waterbury, Connecticut), and Annie OConnor-Smith's husband, Mike, will compete in the Ironman Triathlon in Coeur d'Alene, Idaho.

Thank you to all our NNPDF families, friends and supporters, who organize, donate and participate in these events to raise funding for essential research and to provide all-important family support services!

More events are scheduled around the nation for the coming weeks. Visit the NNPDF Web site's Upcoming Events page for all the details.

One final note -- as many are celebrating graduations around the country, the Naugatuck, Connecticut, High School lovingly dedicated their 2010 yearbook to the memory of Bryanna DeSouza (NPC), who would have graduated this year. Visit the NNPDF's Recent Events page for the complete posting.

LoganFest Basketball Tournament a Roaring Success!

2010-06-09T16:26:00.001-05:00

The Kalles (Puyallup, Washington) Junior High School's LoganFest 3-on-3 basketball tournament saw 35 teams of all ages competing to help raise funds and awareness for Niemann-Pick Disease in honor of Kalles seventh-grader Ty Quandt (NPC).

Teams played a minimum of four 20-minute games, leading up to the championship games. Prizes for first and second place teams, raffle prizes, "Persevere" t-shirts, team t-shirts and concessions added to the action.

In addition to Kalles students, teachers, staff and families, donors and supporters included Ty's friends and former teachers from Mt. View Elementary School.

LoganFest is named in honor of a child who inspired the first event in his fight against neuroblastoma cancer. The school's motto, "Tyee Goodness" (from the Chinook Jargon), implies acts of kindness, and LoganFest is just one example of how Kalles Junior High embodies "Big Goodness."

For all the details, including links to videos from LoganFest, please visit the National Niemann-Pick Disease Foundation's NewsLine page.

Genzyme Marathon Team Runs for Rare Diseases

2010-06-08T10:05:00.000-05:00

Genzyme Marathoners Raise Funds and Awareness for Rare Diseases
Two Run Boston Marathon in Honor of Niemann-Pick Disease Type B

A team of runners from Genzyme Corporation competed in the 2010 Boston Marathon this spring, raising approximately $25,000 for the National Organization of Rare Diseases (NORD).

Each runner or pair of runners raced in honor of someone affected by a rare disease, and two of the marathoners were matched up with Collin and Cohen Parody, both affected by Niemann-Pick Disease Type B. The runners wore shirts with a photo of the boys, and ran in their name.

The runners spoke of their excitement and sense of meaning in running in honor of a specific individual affected by a rare disease.

As one runner commented, "I just have to say that working on this has made the experience so much more significant for me. Besides putting a human connection on the whole venture, it puts what we’re doing in perspective.... The fundraising and awareness are as much a part of this – if not more so – than the running is now. And that’s saying a lot, considering we’re runners! "

For all the latest news from the National Niemann-Pick Disease Foundation, visit www.nnpdf.org.

Joseph James Colton

2010-05-27T09:20:00.001-05:00

Joseph James Colton
May 18, 2005 - May 19, 2010

It is with great sadness that we pass along news of the passing of little Joseph Colton, the son of James and Alexa Colton of Florida. Joseph James Colton, 5 years old, passed away on Wednesday, May 19th due to conditions resulting from Niemann- Pick Disease Type A/B.

Joseph was a happy child from the day he was born until the day he died. His enthusiastic smile brightened the room. Joseph loved to attend his brother's baseball and football games, watching and rooting for the teams to score.

Joseph enjoyed birthday parties, listening to music while dancing in his chair, hanging out in his community pool, taking morning or evening walks through his neighborhood and stopping to toss acorns into the water from the bridges.

We can all learn from Joseph's example how to embrace the simple pleasures available to us in each precious day. While his life was far too short, it was a life well-enjoyed and well-lived.

Our deepest sympathies go out to Joseph's family and friends in their loss.

For more information about Niemann-Pick Disease, please visit the NNPDF Web site.

Ironman Competitor to Raise Funds for Niemann-Pick Disease!

2010-05-25T10:58:00.001-05:00

Ironman Mike Smith of Florida will compete in the Ford Ironman Triathlon in Coeur d'Alene (Idaho)on Sunday, June 27, to raise money and awareness for the National Niemann-Pick Disease Foundation.

The triathlon is the ultimate test of strength, endurance and determination, consisting of swimming 2.4 miles, biking 112 miles, and running 26.2 miles. An Ironman certainly embodies the NNPDF motto -- "Persevere!"

Mike's fundraising goal is $3,000 and he hopes to raise enough to qualify for a Janus matching fund donation, as well. Visit Mike's page to make a donation and read more about his motivation -- his vivacious wife, Annie OConnor-Smith, who is affected by Niemann-Pick Disease Type B.

Visit the National Niemann-Pick Disease Foundation's Web site to learn more about Niemann-Pick Disease and how you can help advance our Quest for a Cure!

FDA grants “Orphan Drug Designation” to Cyclodextrin for treatment of Niemann-Pick Disease Type C

2010-05-21T16:12:00.000-05:00

Due to the efforts of Hugh and Chris Hempel, Dr. Caroline Hastings and Ron Browne, an application to the Food and Drug Administration requesting “Orphan Drug Status” for cyclodextrin has been approved.

What exactly does that mean for our NPD community?

It is important to emphasize that an Orphan designation does not make any assessment at all on how the drug works in clinical trials, whether it is safe or effective in patients, nor whether it will ever be commercially available – the Orphan designation’s main purpose is to make the development of the drug more financially viable for the developer.

Please visit the NNPDF's cyclodextrin page for a bit of background and glossary terms that will help you to understand this latest development.

18th Annual NNPDF Family Support and Medical Conference

2010-05-20T16:26:00.000-05:00

Register now for the National Niemann-Pick Disease Foundation's 18th Annual Family Support and Medical Conference, scheduled for Thursday, August 5th through Sunday, August 8th, 2010!

This year's conference will be held in Toronto, Ontario, Canada, co-hosted by our sister chapter, the Canadian Chapter of the National Niemann-Pick Disease Foundation.

The NNPDF Family Conference is your best opportunity to learn the latest information about Niemann-Pick Disease directly from the eminent experts in the field, including physicians, researchers and scientists.

You will also meet, make friends, and have fun with many other families who are facing the challenges of NPD. We promise, you will remember forever the family connections you make at the Family Conference.

Family Conference registration packets were mailed out to NNPDF and CCNNPDF members last week. If you did not receive a packet, contact the NNPDF Central Office, or access the registration packet via the Family Conference page of the NNPDF Web site.

The Family Conference page is chock-full of information about the conference, including a conference schedule-at-a-glance, international travel tips, hotel reservation info, etc.

The deadline for registration is July 1st, so don't delay! Mark your calendar for Toronto, and start making plans to attend.

2010-05-13T09:22:00.000-05:00

"Promising Therapies for Niemann-Pick Type C Disease"
NIH (NINDS) to Sponsor Meeting
June 3 - 4, 2010

The National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) is sponsoring a meeting in early June titled "Promising Therapies for Niemann-Pick Disease Type C Disease."

This meeting, set for June 3 - 4, at the Rockville, Maryland Hilton Hotel, is open to scientists, physicians and families until the maximum registration has been reached.

For more information, including the tentative agenda, travel and lodging information and a link to register, please visit our NewsLine page.

23-Month-Old Succumbs to Niemann-Pick Disease Type A/B

2010-04-30T14:47:00.000-05:00

Caileen Harley Harrison (NPA/B)
May 7, 2008 - April 19, 2010

We are very saddened to pass along word of the death of little Caileen Harley Harrison, just short of her second birthday, due to complications of Niemann-Pick Disease Type A/B. Caileen was the daughter of NNPDF member Valerie Montgomery and Collis Harrison of California.

Kelly Puente of the Long Beach California Press-Telegram filed a story earlier this week about Valerie and Caileen. Caileen brought her family great joy despite her struggle with Niemann-Pick Disease. Visit the NNPDF NewsLine for a link to the Press-Telegram story and more photos.

Our deepest sympathy goes out to all Caileen's family and friends in their loss.

[photo credit: Brittany Murray/Press-Telegram]

Join us in Toronto August 5 - 8, 2010!

2010-04-22T08:37:00.001-05:00

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!

Health Canada Approves Zavesca for Use in Niemann-Pick Type C; First Authorized Treatment in Canada

2010-04-01T11:35:00.000-05:00

Health Canada recently announced its approval of the drug Zavesca (miglustat) as the first authorized treatment for neurological symptoms of Niemann-Pick Disease Type C (NPC). Zavesca is not a cure for NPC, but it has shown promise in treating symptoms related to NPC and in slowing the progression of the disease for some patients.

For more details, click here.

Welcome to the National Niemann-Pick Disease Foundation Blog

2010-04-01T10:46:00.001-05:00

Visit this page for the latest news and event announcements from the National Niemann-Pick Disease Foundation.