Holiday e-Newsletter!

2012 Winter Holiday e-Newsletter

The holiday e-newsletter is now available!  Click the link below to see the highlights of the past year and what is in store for 2013!

~2012 Winter Holiday e-Newsletter~

[Dec. 26, 2012 blg]

Fellowship Announcement

National Niemann-Pick Disease Foundation Research Post-Doctoral Fellowship Funding Announcement 

~Oct/Nov 2012~ 

The National Niemann Pick Disease Foundation (NNPDF) has chosen to fund post doctoral fellowships for the past several years. These fellowships support a post doctoral fellow to work on a research project in the field of Niemann-Pick Disease for a period of two years. The NNPDF has utilized strategies to allocate funds raised by NPD families by disease type to support these specific NPD disease focused fellowships.

In the past several years, NNPDF has been able to fund a number of fellowships for Niemann-Pick Disease Type C. These are called the Peter G. Pentchev Research Fellowships and the NNPDF in conjunction with the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) are currently funding the work of five (5) Peter Pentchev fellowships.

This year we were able to establish a fellowship for Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease) research entitled the Edward H. Schuchman Research Fellowship for ASMD Niemann Pick Disease. We received 5 strong applications for the fellowship and I am pleased to announce that the first Edward H. Schuchman Fellowship has been awarded to Dr. Lluis Samaranch Gusi (sponsor Dr. Krystof S. Bankiewicz, MD, Ph.D.) at the University of California San Francisco.

This fellowship research project is entitled: “AAV9 mediated human acid sphingomyelinase expression in the non-human primate brain; Preclinical development of gene therapy for Niemann-Pick Disease Type A”. The goal of this project is to develop a treatment for the neurological consequences of Niemann-Pick Type A Disease. This project will evaluate the feasibility of delivering an adeno-associated virus encoding human acid sphingomyelinase globally into the brain by injection of a vector into the brain and/or the spinal canal.

Respectfully submitted by:
Sandra Cowie
NNPDF Research Committee Co-chair

For more detailed information please Click here.

For information on the history of Research funding you can visit the following pages:

• Fellowships
• Grants
• Clinical Research 

[Nov. 27, 2012 blg]

NIH Cyclodextrin Trial Updates

Hello NNPDF Families and Friends, 

We have received an additional update from the Therapeutics for Rare and Neglected Diseases ~ Niemann-Pick Disease Type C Team (TRND NPC Team) at the National Institutes of Health (NIH) with new information on the Phase I Study of the Cyclodextrin (HP-b-CD) for NPC1 Disease. 

The application for an Investigational New Drug (IND) was filed with the United States Food and Drug Administration (FDA) on Wednesday, November 14th, 2012! Please follow the link below to the NNPDF "Cyclodextrin" web page for more details. 

Cyclodextrin page on NNPDF

Sincere and heartfelt THANKS to ALL those who have worked to diligently to see this program move forward. We WILL Persevere in our Quest for a Cure! 

~Nadine

Trek Atlas Ingram

Trek Atlas Ingram (NPA)
4/11/11 - 6/21/12



Very sadly we pass along the news that little Trek Atlas Ingram has passed away due to the effects of Niemann-Pick Disease Type A (NPA). Trek traveled the world in his short life, venturing with his family from his first home in Hawaii to Thailand, Nicaragua, Japan and around the U.S.

Trek is survived by his parents, Jarrett and Chelsea Ingram, and two older brothers, Peyton and Conner, along with many other relatives and friends.

To read about the global adventures that filled Trek's life, visit the family's blog at Our Sonny Life. A celebration of Trek's life will be held on a Maui beach at noon on Saturday, June 30. For more information, visit the blog babytrekatlas.com.

Our heartfelt sympathy goes out to Trek's family and many friends around the globe.

To learn more about Niemann-Pick Disease Type A, visit www.nnpdf.org.

Notre Dame Dean Riding Across the U.S. Raising Awareness of Niemann-Pick Disease

University of Notre Dame's Greg Crawford is undertaking his third cross-country bicycle ride to raise awareness and funding for Niemann-Pick Disease. Crawford is the Dean of the College of Science at UND.

Crawford began his ride in Boston, Massachusetts, on May 21, and plans to finish the 3,250 mile ride in Pebble Beach, California, later this month.   For updates, visit Crawford's blog at http://blogs.nd.edu/gregcrawford/. 

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

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/).

Update from Genzyme on ASMD Clinical Trials

Update on Clinical Trial of Enzyme Replacement Therapy (ERT) for Acid Sphingomyelinase Deficiency (ASMD)

The National Niemann-Pick Disease Foundation (NNPDF) has been staying in touch with representatives from Genzyme with regard to the status of Phase 2 of the Enzyme Replacement Therapy (ERT) clinical trial for Acid Sphingomyelinase Deficiency (ASMD) NPD Type B.

It seems there has been some confusion among members of the ASMD community; please note that we have contacted Genzyme and confirmed that the Phase 2 trial has not been cancelled and the Genzyme/Sanofi Company is committed to the ongoing support of our NPD Type A and B patients and families.

Genzyme has advised that they are still actively preparing for a Phase 2 clinical trial for enzyme replacement therapy in ASMD/NPD Type B. The trial is expected to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks.

The program remains a key priority for Sanofi. They are committed to the Niemann-Pick community and have provided the NNPDF with an update on the Genzyme-sponsored Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials.

To read the update from Genzyme, visit the NNPDF's NewsLine or Enzyme Replacement Therapy Type B page.  To learn more about Niemann-Pick Disease of all types, visit 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.

Kaitlyn Kay Bourgeault

Kaitlyn Kay Bourgeault (NPA)
7/1/09 - 3/22/12

With heavy hearts, we share the news that Kaitlyn Kay Bourgeault, the daughter of Deanna and Chip Bourgeault of Indian Trail, North Carolina, passed away due to the effects of Niemann-Pick Disease Type A (Acid Sphingomyelinase Deficiency or ASMD).

Kaitlyn and her family have touched and inspired so many with their strong faith and the support of their loving community, sharing their story and poignant photos through their family's blog, Kaitlyn's Korner.

For service information, visit the NNPDF's NewsLine page.

The family has asked that in lieu of flowers, donations may be made to the NNPDF in Kaitlyn's name.

Our deepest sympathy goes out to Chip and Deanna, and all of Kaitlyn's family and many friends.

Adelaida Kay Van Meter

Adelaida Kay Van Meter (NPA)
6/13/10 - 2/29/12

We are very sad to report that we have received word of the death of little Adelaida Kay Van Meter, at the age of 20 months, due to Acid Sphingomyelinase Deficiency (ASMD), i.e., Niemann-Pick Disease Type A.

The daughter of Murro Van Meter and Sophia Fox of Massachusetts, "Adelaida loved everyone and everything," writes her mom. "She especially loved singing songs, baby dolls, reading books, and going on adventures. No one ever told Adelaida she wasn’t supposed to be the happiest little girl in the world! Her vibrant personality brought joy to the lives of her family and friends. Adelaida was an old soul. Words cannot express how she will be missed. There will be an enormous emptiness for a long time."

To read and see more about Adelaida's beautiful, too-short life, read the March 11 post at the Bourgeault family's blog, Kaitlyn's Korner. For more information about Niemann-Pick Disease Type A, visit www.nnpdf.org.

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

NNPDF 20th Anniversary - 1992 - 2012

This year, the National Niemann-Pick Disease Foundation will mark 20 years of providing services to families affected by NPD, and raising awareness and funding for research into the causes and treatment of NPD.

Though we all wish there was no need for an organization dealing with the heartbreaking disease that is Niemann-Pick, the reality is, that until there are effective treatments and a cure, the need is great, and the NNPDF can be proud of all that it has achieved in the fight against NPD.

To learn more about the history of the NNPDF and the progress made since it was established, and how you can join in the recognition of this milestone, visit our special NNPDF 20th Anniversary page.

Edward H. Schuchman Research Fellowship - Request for Applications

The National Niemann-Pick Disease Foundation is pleased to announce a request for applications for the 2012 Edward H. Schuchman Research Fellowship, examining the biology of Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease).

M.D., Ph.D., and/or D.V.M. postdoctoral fellows are eligible to apply for funding to improve our understanding of the biology and pathogenesis of Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease).

Preference will be given to research projects developing new therapies for ASMD, and for identifying biomarkers to improve diagnosis or to monitor disease progression and efficacy in clinical trials.

The fellowship provides support of $40,000 per annum for two years and may be renewable based on performance. Applicants must be currently associated with a recognized laboratory.

These fellowships are named for Edward H. Schuchman, Ph.D. a pioneer in ASMD research, and supporter of the NNPDF.

Applications are due May 1, 2012, and the fellowship will begin September 1, 2012. Visit the NNPDF's Web site for more information and application procedures.

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!

Leap Day is World Rare Disease Day

Please Help Us Raise Awareness!

As we draw closer to World Rare Disease Day on Leap Day, February 29, we want to remind you that there are many simple ways you can get involved and help raise awareness and funding for those affected by rare diseases, including Niemann-Pick Disease.

One super-easy way to raise awareness is to right click the Rare Disease Day logo, copy it, save it, and use it as your Facebook profile photo.

Please visit the NNPDF's NewsLine page for more easy ideas to recognize Rare Disease Day and raise awareness for those who are affected by rare diseases the world over.

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 .

TREAT Act Introduced

NORD Supports
Transforming the Regulatory Environment to Accelerate Access to Treatments (TREAT) Act

U.S. Senator Kay Hagan (North Carolina) introduced the Transforming the Regulatory Environment to Accelerate Access to Treatments (TREAT) Act on February 15, and the National Organization for Rare Disorders (NORD) has issued a press release in support of it.

Senator Hagan's statement describes the bill thus: "This bill empowers the Food and Drug Administration to ensure consistent processes and a clear and effective pathway that will encourage the development of innovative treatments to benefit patients, particularly subpopulations and those with rare diseases, and improve the public health."

NORD supports this proposed legislation which, among other things:

•enhances and codifies the accelerated approval process
•addresses concerns of the rare disease community related to conflict of interest provisions
•provides greater clarity, consistency, and transparency in review processes
•encourages innovation and adoption of modern scientific tools in regulatory science

Senator Hagan's statement mentions the flexibility study conducted by NORD earlier this year and the need to ensure uniformity in the application of flexibility.

For a link to NORD's press release, including the text of Senator Hagan's statement, visit the NNPDF's NewsLine page.
--------------------------------------------------------------------------------

NIH Clinical Trials and You

New Web Site Launched

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

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

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

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

World Rare Disease Day on Leap Day

More Than 630 Partners to Join in Marking Rare Disease Day February 29

On the ultimate rare day---February 29th---millions of people around the world will be observing Rare Disease Day. And in the U.S., more than 630 patient organizations, government agencies, research centers and companies who have signed up as "Rare Disease Day Partners" (including the NNPDF), will join the National Organization for Rare Disorders (NORD) in supporting the day!

"This year marks the 5th anniversary of Rare Disease Day," said Peter L. Saltonstall, president and CEO of NORD. "The event has grown every year and was observed in more than 60 nations last year. The purpose is to raise awareness of rare diseases as an important public health issue."

To learn more about how you can get involved in World Rare Disease Day, visit NNPDF's NewsLine or our Rare Disease Day page.

2012 NNPDF Family Conference - Nashville, TN

The 2012 NNPDF Family Support and Medical Conference is being planned for Nashville, Tennessee!

This summer's event will be the 20th Annual Family Conference, and attendees will help commemorate this milestone of the foundation's work to advance research into Niemann-Pick Disease and help families facing its challenges.

Nashville, "The Music City," promises to be an exciting and fun family destination! Learn more about all Nashville has to offer from the Nashville Convention and Visitors Bureau at visitmusiccity.com.

The conference site and dates will be announced as soon as they are set. The conference is typically held the last weekend in July or one of the first two weekends in August, making it a great time for NNPDF families to combine their trip with a summer vacation.

Watch the NNPDF NewsLine page for announcement of conference details as they develop.