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.

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.

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.

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.

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.
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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.

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.

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.

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.

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.