Alzheimer’s Patients Presenilin 1 Gene Defect Causes A Lysosomal Storage Disorder

A research paper by Dr. Ralph Nixon, director of the Center of Excellence on Brain Aging and the Silberstein Alzheimer’s Institute at NYU Langone Medical Center, was published today in the journal Cell reporting that Alzheimer’s patients with genetic mutations in the presenilin 1 gene have disruptions in the cellular protein recycling process mechanisms in […]

Guidelines To Write and Submit an Orphan Drug Application For A Rare Disease

While working on our orphan drug application for Cyclodextrin for the treatment of Niemann Pick Type C disease, I searched the Internet looking for examples of an actual orphan drug application that was filed with the U.S. Food and Drug Administration. Not surprisingly, I could not find any ‘real applications’ that could be used as […]

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 […]

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