News and Articles

News and Articles

_______________________________________

To Contact DART:

DART has provided funding for seven research studies so far!

Updates as of December, 1, 2007

DART’s Trustees and Volunteer Committee have already funded research at seven prestigious institutions.

Mail:

Email:

Telephone:

Facsimile:

Albert Einstein  College of  Medicine of  Yeshiva University is exploring

gene therapy for NPC1 disease.  In this pilot study, university researchers will

develop reliable biological procedures for detecting functional NPC1 protein.

These methods will then be  used in the  development and  testing of a novel

genetically  modified  particle  derived  from a  virus and  carrying the NPC1

normal gene.  Initial tests will be carried out on a mouse model of the disease

to confirm that gene replacement  within the  central  nervous system  can be

obtained  in  this  manner.  It  is  hoped  that  this study  will  lead  to  future

funding by the National Institutes of Health.

DART and the Parseghian Foundation are supporting two postdoctoral research fellowships examining the neurobiology of NPC, the first at the University of Texas, Southwestern and the second at the Scripps Research Institute. It is hoped that these studies will help to close the major gaps existing today in understanding the basic mechanisms of brain cell dysfunction and death, and also in identifying biomarkers of disease activity for diagnosis and clinical trials.

DART and the Parseghian Foundation are also providing funding to the National Institutes of Health for contracted nurse support for Dr. Forbes Porter’s Lab Section on Molecular Dysmorphology. Started in the summer of 2006, studies of NPC patients’ blood, spinal fluid, vision, and speech, and detailed MRI’s are among the battery of examinations over a 4 day period. This study is already yielding important information on NPC that we hope will lead to fresh areas of research, potential biomarkers and potential therapies.

At the University of Pennsylvania, DART and the Parseghian Foundation are funding research to test promising treatments for NPC, most importantly a compound allopregnanolone, with cats afflicted by NPC. Working on the team are renowned Alzheimer’s disease researchers who are collaborating in the study because of unique similarities they have recognized in the progression of NPC in children and Alzheimer’s disease in adults.

DART’s study at Columbia University involved a natural compound, ubiquinone or Coenzyme Q10 in humans. Deficiency of CoQ10 has been associated with various degenerative diseases and neurological disorders and some parents of children with NPC have reported improvements following treatment with CoQ10. The goal of the study is to understand the benefit, if any, of CoQ10 as an NPC therapy.

At the University of California, San Francisco, DART and NNPDF, funded research related to the potential use of the drug Prozac, as a therapy for NPC. Research has shown that the treatment of NPC mice with the neurosteroid allopregnanolone (ALLO) resulted in increased longevity, delayed onset of tremor, incoordination and motor loss, and delayed weight loss. Other research has shown that Prozac could increase ALLO concentrations in people with depression. Unfortunately, they found that Prozac treatment had no effect on the lifespan of the NPC mice nor how the mice gained and lost weight over the course of their lifetime, or in their motor coordination and locomotion.