Friday, December 16, 2011

Latest Update on Planning for NIH Cyclodextrin Clinical Trial

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.

Thursday, December 15, 2011

International Niemann-Pick Disease Alliance Meets

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.

Tuesday, December 6, 2011

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

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

Monday, December 5, 2011

Melana Marie Elfe (1976 - 2011)

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).

Friday, November 11, 2011

Daniel J. Flinton (2006 - 2011)

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.

Monday, November 7, 2011

Niemann-Pick Research Updates - Cyclodextrin Trial and Postdoc Fellowships

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.

Friday, November 4, 2011

Three More Lives Lost to Niemann-Pick Disease

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.

Friday, October 21, 2011

Becky McGuire Joins NNPDF Board of Directors

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.

Friday, October 7, 2011

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

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.

Friday, September 30, 2011

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."

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

Tuesday, September 6, 2011

Research Into Ebola and ALS Hold Interest for NPC Research

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.

Wednesday, August 31, 2011

2011 NNPDF Family Conference Recap

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: 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!

Monday, August 29, 2011

10th Annual Niemann-Pick Disease October Awareness Month

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!


Friday, July 1, 2011

NPC Research Updates

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

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

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

For more information about Niemann-Pick Disease of all types, visit

Thursday, June 23, 2011

Cyclodextrin Results in Mice May Help Shape Clinical Trial for NPC

Wall Street Journal Health Blog Article

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

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

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

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

Thursday, May 19, 2011

Niemann-Pick Disease Research News

Here are several updates regarding Niemann-Pick Disease research:

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

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

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

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

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

Monday, May 16, 2011

Spring/Summer is Fundraising and Awareness Time!

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

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

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

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

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

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

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

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

Friday, May 6, 2011

Happy Mother's Day

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

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

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

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

Thursday, April 28, 2011

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

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

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

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

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

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

Friday, April 22, 2011

Good Things Happening at Genzyme

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

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

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

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

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

Visit the NNPDF NewsLine page for more information and links.

Congratulations, and Thank You to Genzyme!

Wednesday, April 20, 2011

Cyclodextrin Conference Call May 2, 2011

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.

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.

Monday, April 18, 2011

NNPDF Family Support and Medical Conference - Save the Dates!

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.

Wednesday, April 13, 2011

NNPDF Research Updates

Postdoctoral Fellows Report on their Work

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

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

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

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

Thursday, April 7, 2011

NIH to Develop Clinical Trial Utilizing Cyclodextrin

Informational Conference Call to be Scheduled

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

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

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

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

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

For more information about Niemann-Pick Disease and the National Niemann-Pick Disease Foundation, visit

Tuesday, April 5, 2011

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

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

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

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

Thursday, March 17, 2011

NIH Director Francis Collins Conducts Webinar on NCATS

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

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

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

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

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

Wednesday, March 9, 2011

2011 Peter G. Pentchev Postdoctoral Research Fellowships

Research Fellowships Support Study of Niemann-Pick Disease Type C

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

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

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

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

Monday, March 7, 2011

Jimmy "Lee" King and Michelle Rose Trombley

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

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

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

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

Friday, March 4, 2011

Making the Most of Your Visit to the NNPDF Web Site

If you've spent much time at the NNPDF Web site (, 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!

Friday, February 25, 2011

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

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!

Thursday, February 17, 2011

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

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: 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 .

Wednesday, February 16, 2011

Sale of Genzyme to Sanofi-Aventis

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.

Monday, February 14, 2011

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

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 for more details and ways to show your support of those affected by rare diseases.

Thursday, February 10, 2011

NNPDF Board Meeting Held in Milwaukee

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

Wednesday, February 9, 2011

Genzyme Completes Sale of Diagnostics Business

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.

Thursday, February 3, 2011

NNPDF Annual Board Meeting

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, 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.

Friday, January 28, 2011

Gordon Conference on Lysosomal Storage Diseases

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

Thursday, January 27, 2011

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

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

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

Tuesday, January 25, 2011

New Test Promises to Find Fatal Diseases Before Conception

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, 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.

Friday, January 21, 2011

Rare Disease Day - February 28, 2011

"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.

Tuesday, January 18, 2011

Guy Michael Borsetti Heikila

Guy Michael Borsetti Heikila
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

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

Friday, January 14, 2011

Adam James Edward Reimer

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

Wednesday, January 12, 2011

Fishing for Charities Tournament Trail Featured in Online Fishermen Magazine

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

Wednesday, January 5, 2011

"Here for You Always" Special Music Video Project

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!