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.
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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.