Three of the Parseghian’s four children had been recently diagnosed with this fatal, genetic, neurodegenerative, cholesterol metabolism disorder for which there was no cure. Medical research was their only hope.
So much has happened in twenty-two years…and, so much has been learned. Thanks to the generous support of thousands of individuals, corporations, foundations and other NPC families, more than $50 million dollars have been raised for research. The number of labs studying NPC has grown from 2 to more than 100, with many of them being funded by the APMRF. More than 85% of all funds raised go directly to research.
Because NPC is a cholesterol metabolism disorder, the research is also helping those who suffer from heart disease, stroke, ebola, and many other lysosomal storage disorders. Through Foundation-sponsored research, the gene responsible for NPC1 was isolated in 1997. With this came the discovery of a cholesterol pathway in all humans that previously was unknown.
This is but one of many examples of how the research–which covers a multitude of areas and fields–is not only benefiting NPC but a host of other diseases. Patients suffering from other storage disorders including Tay-Sachs, Fabry, Gauchers, Batten, and Sandhoff will potentially reap the benefits.
Similarities between NPC and Alzheimer’s are becoming more and more apparent each day. The buildup of a “tangle” in the brain of NPC patients mimics what occurs in Alzheimer’s. In fact, the National Institutes of Health has referred to NPC as “childhood Alzheimer’s.”
Even of recent, a new study has been published demonstrating how children with NPC are immune to ebola infection and is leading to possible therapeutic treatments to that disease.
Yes, our hope is that NPC research will some day save the lives of children and young adults afflicted by this disease in the US and abroad. Throughout the process, however, we know thousands of others are being helped by the scientific discoveries that are being made through Niemann-Pick Type C disease research.
When the Parseghian family started their foundation in 1994 there was no knowledge of what caused NPC disease, no treatments, and their first NPC conference had two researchers in attendance. Now, because of your generosity and the incredible work of all those fighting for a cure, so much is known about the NPC, there are multiple potential lifesaving drugs in clinical trials, and this past year there were hundreds of attendees from around the globe at our annual conference annual conference.
Thank you to all that have brought us close to the treatment and cure the Parseghian family has been seeking.