FDA and EMA Forge Rare Disease Collaboration; Announcement Coincides with World Rare Disease Day 2010

In recognition of World Rare Disease Day 2010, the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) announced that they will collaborate together and now accept a single annual report from sponsors with an orphan drug designation for rare medical conditions. The joint announcement was made by Dr. Timothy Cote, director […]

FDA Orphan Drug Workshop Makes Filing Applications Easy – Even For Rare Disease Patient Advocates!

At a historic orphan drug workshop held by the U.S. Food and Drug Administration Feb. 25-26 and before World Rare Disease Day 2010, we filed a momentous orphan drug application with the FDA for the treatment of Niemann Pick Type C disease with cyclodextrin. Our filing occurred in Claremont, CA, at the Keck Graduate Institute’s Center […]

A True Healthcare Reform Idea – Priority Review Vouchers For Ultra Rare Diseases

This week I have been reading all about priority review vouchers. Henry Grabowski and other faculty at Duke University came up with the idea for providing an incentive for drugmakers to target certain tropical and infectious diseases (such as TB, malaria, cholera, dengue, leprosy) affecting poor nations.  Senators Sam Brownback (R-KS) and Sherrod Brown (D-OH) […]

American Heart Association Features Addi and Cassi’s Fatal Genetic Cholesterol Disorder

Thank you to the American Heart Association for featuring Addi and Cassi Hempel’s story and increasing awareness of Niemann Pick Type C, an ultra rare and fatal cellular cholesterol disease that is trying to steal our twins away from us. We hope that by reading our story, more people will understand the significance of the Niemann Pick Type C […]

World Rare Disease Day 2009 Genes Video

I made this video for World Rare Disease Day 2008 to bring global attention to the fact that Rare Disease is not so rare — it can happen to anyone or any family. Although each Rare Disease affects a small number of people, taken all together rare diseases affect millions of people in the world. […]