From the age of five, it was apparent that the Marella’s daughter Dana, a happy, caring and energetic child, had visual and learning difficulties. After years of searching for answers to her challenges, Dana was diagnosed in 2002 at the age of eight with Niemann-Pick type C disease. In 2004, at the age of 5, Dana’s brother Andrew, the Marella’s … Read More
Conversation with CEO of Vtesse about Niemann-Pick Type C
Recently, Vtesse announced they had secured $17 million in additional funding to support their ongoing pivotal clinical trial of VTS-270 for treating Niemann-Pick type C1 disease. We talked to the CEO of Vtesse, Ben Machielse, about the study and the horrific impact this disease can have on a family. Read the full story here.
A Newborn Screen for NPC
A Washington University School of Medicine-led research team has developed a mass spectrometry-based screen for the cholesterol storage disorder Niemann-Pick disease type C in newborns. Read the full story here.
Novel Drug Delivery System May Offer New Hope
Researchers at Oregon State University and other institutions have discovered a type of drug delivery system that may offer new hope for patients with Niemann Pick Type C1 disease. No treatment currently exists for the disease, however, a compound that shows promise is now undergoing clinical trials, but it has major drawbacks. New findings, published today in Scientific Reports, outline the … Read More
A Race for Adam Recke
The Race for Adam Foundation, a volunteer non-profit organization dedicated to funding research projects to find a treatment and cure for Niemann-Pick Type C disease (NP-C) and related neurodegenerative disorders, began in 2005. In July of that year, Sean and Amy Recke’s seven-year old son, Adam, was diagnosed with NP-C, a genetic neurodegenerative disorder for which there is no cure. … Read More
2016 Parseghian Conference
NPC scientists and families were delighted to return to Tucson in June for the annual Ara Parseghian Medical Research Foundation Annual meeting. This past year has brought several major breakthroughs in our understanding of the function of NPC1 protein, and three laboratories presented these discoveries as part of the conference program. Scientists and families were also briefed on the latest … Read More