Moms Receive EU Orphan Drug Designation From European Medicines Agency For Novel Cholesterol Drug Called Cyclodextrin

Last year, after Dr. Caroline Hastings and I received the U.S. Food and Drug Administration orphan drug designation for Hydroxy-propyl-beta-cyclodextrin (HPBCD) for the treatment of Niemann Pick Type C disease, I was contacted by Sue French. Sue lives in the United Kingdom and her son William is also afflicted with the rare and fatal genetic […]

From Hospital To Home on Christmas

We started Christmas Eve day in the San Francisco Bay Area at Children’s Hospital Oakland where Dr. Caroline Hastings gave Addi and Cassi their sixth injections of cyclodextrin into their central nervous systems. By 1 pm, Addi and Cassi were feeling a lot better and we raced home on Highway 80 up over Donner Summit, […]

Creating Hope Act 2010 Bill Would Extend Priority Review Voucher System To Rare Pediatric Diseases

Great news for the pediatric rare disease community came out late last week — rare disease advocates please get this out on your blogs! Senators Sam Brownback (R-KS), Sherrod Brown (D-OH), and Al Franken (D-MN) are supporting the bipartisan bill S. 3697, the “Creating Hope Act of 2010.” Nancy Goodman, Executive Director of Kids v […]

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 […]

Kids Living With Dementia Diagnosis – 4 Year Old Johnathan Spenser’s Story

  Johnathan Spencer has Niemann Pick Type C disease like Addi and Cassi. Embracing every moment Thursday, April 29, 2010 By Sara Suddes (ssuddes@gilroydispatch.com):  Photo by: Lora Schraft, Staff Photographer, Gilroy Dispatch   Every morning, Johnathan Spencer’s mother dissolves the contents of a pill containing an experimental drug into a cup of water, draws the solution into a syringe […]

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