Videocast of Presentation by Dr. Porter

Development of Therapeutic Interventions for
Niemann-Pick Disease, Type C1

Dr. Forbes "Denny" Porter of the National Insitute of Child Health and Human Development, National Institutes of Health, presented Clinical Center Grand Rounds at the National Institutes of Health on May 16, 2012. Dr. Porter's presentation was titled Development of Therapeutic Interventions for Niemann-Pick Disease, Type C1.

The NIH produced a videocast of Dr. Porter's presentation, and you can download or watch the video.  Visit the NNPDF's NewsLine page for more information and a link. 

Visit the NewsLine page often for the latest updates in news and research.  See also our Upcoming Events page for fun and worthwhile awareness and fundraising events being hosted all around the country, including the annual Ducks for Bucks family event coming up June 2.

Monica Taillefer

Monica Marie Amanda Taillefer (NPC)
8/5/09 - 5/2/12

With broken hearts, we share the news that Monica Taillefer, the daughter of Simon Taillefer and Heather Patenaude of Quebec, Canada has passed away. "Princess Monica," as we love to call her, was two and a half years old, far surpassing all expectations. Monica passed away at home in the loving arms of her parents, at 9:34 p.m. on Wednesday, May 2nd. Remarkably, Monica was also born on a Wednesday at 9:34 p.m.

From the beginning, persisting in the face of their baby's grim diagnosis of Niemann-Pick Disease Type C, Heather and Simon resolved to make every day and every moment special. The Patenaude-Taillefer family generously shared their family's story and photos with us to help raise funds and awareness for the fight against Niemann-Pick Disease, and through the seasons, little Monica's happy face has brought smiles to so many who never had the joy of meeting her.

Our deepest sympathy to Heather and Simon, their extended family, and many friends at this very sad time.

Visit Monica's special page to see photos of her family's celebrations.

For more information about Niemann-Pick Disease, contact the National Niemann-Pick Disease Foundation (http://www.nnpdf.org/).

Joshua Jaylon Garcia

Joshua Jaylon Garcia
2/2/90 - 4/13/12

With great sadness, we pass along word of yet another young life lost to Niemann-Pick Disease Type C.

Joshua Jaylon Garcia, the son of Michelle Pino of San Felipe Pueblo, NM, and Tony Garcia of Albuquerque, NM, lost his battle with NPC on April 13, at the age of 22 years.

In addition to his parents, Joshua leaves behind a younger sister, Alicia, grandparents, aunts and uncles, cousins, and other relatives and friends.

Our deepest sympathy to Joshua's family and friends in their loss.

To learn more about Niemann-Pick Disease, visit http://www.nnpdf.org/.

James "Wilson" Speakmon-Coleman

James "Wilson"
Speakmon-Coleman
4/8/93 - 4/1/12

We are very sad to report that James "Wilson" Speakmon-Coleman has passed away from the effects of Niemann-Pick Disease Type C (NPC). The son of David P. Coleman and Theresa Speakmon-Coleman, both of Portland, Oregon, Wilson was one week short of his 19th birthday. In addition to his parents, Wilson is survived by his younger brother, Thomas, grandparents, and other relatives and friends.

Services were held April 10, at Mt. Scott Funeral Home, Portland. The family has requested that memorials be made to the NNPDF in Wilson's memory.

Our deepest sympathies to the Speakmon-Coleman family at this very sad time.

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

Rare Disease Day - Hug Somebody Special and Rare!

Rare Disease Day - Leap Day
February 29, 2012

An opportunity to raise awareness and to give somebody special a hug!

World Rare Disease Day is a fitting time to highlight a special video/slideshow montage of some of our NNPDF member families.

The music video, created to honor the love and support of family relationships, is set to an upbeat song from singer/songwriter Rachel Taylor, titled "Here for You Always."

Rachel is the cousin of Lorna Tyrrell (mom to Naomi, NPC).

Listen to "Here for You Always" once, and we guarantee you will be humming its catchy tune the rest of the day! :-)

See the video on YouTube, then go hug someone rare and unique!

For more of Rachel Taylor's music, visit http://www.racheltaylormusic.com/.

For more about World Rare Disease Day, visit the NNPDF's special page.

Countdown to Rare Disease Day on February 29!

The 5th Annual Rare Disease Day will be recognized on the ultimate rare day -- Leap Day -- on Wednesday, February 29.

Join with five-year-old Johnathan Spencer in raising awareness of rare diseases -- Niemann-Pick Disease in particular.

Visit the NNPDF's Rare Disease Day page for many fun and easy ideas of how you can get involved!

Gabrielle Christine LaVerde 8/24/01 - 2/17/12

It is with great sadness we report that Gabrielle LaVerde has passed away at the age of 10 years due to the effects of Niemann-Pick Disease Type C. Gabrielle is survived by her parents, Danielle LaVerde and Joseph LaVerde, and other relatives and friends.

The visitation for Gabrielle will be Tuesday, February 21, from 5:00 until 7:00 p.m. at the Oaklawn Chapel of Baldwin Fairchild Funeral Home, 5000 County Rd. 46A, Sanford, Florida.

Funeral Services will be Wednesday, February 22, 2012, at 3:00 p.m. at Westview Baptist Church, 4100 County Rd. 46A, Sanford. The Baldwin-Fairchild Funeral Home is assisting the family.

We extend our deepest sympathy to the LaVerde family in this very difficult time.

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

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.

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

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).

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.

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.

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.

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.

NPC Research Updates

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

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

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

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

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.

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

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

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

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

NIH Director Francis Collins Conducts Webinar on NCATS

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

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

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

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

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

2011 Peter G. Pentchev Postdoctoral Research Fellowships

Research Fellowships Support Study of Niemann-Pick Disease Type C

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

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

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

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

Jimmy "Lee" King and Michelle Rose Trombley

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

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

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

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