Research Project
9195046
Project Abstract PXE International Research Meeting 2016 will set a research agenda for pseudoxanthoma elasticum (PXE). PXE causes legal blindness, cardiovascular disease and several other debilitating symptoms. This meeting will focus on some promising potential interventions and treatments. It will also provide an opportunity to speed up the science to the point of meaningful outcomes for people living with the disease. These discussions will create a roadmap for developing therapy, which is the overall goal of this forum. The organizing committee consists of a diverse group of scientists, clinicians, and advocates who will bring their expertise in several areas to the workshop to round out a competent and creative organizing committee. Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene. The gene is primarily expressed in the liver. Recent findings suggest that ABCC6 regulates the cellular release of nucleoside triphosphates, predominantly adenosine triphosphate (ATP). Outside the cell ATP is rapidly converted into adenosine monophosphate (AMP) and inorganic pyrophosphate (PPi). Measurements of PPi levels in a sampling of 12 individuals with confirmed ABCC6 mutations revealed significantly lower concentrations of PPi in their blood as compared to healthy controls. Thus, it is most likely that PPi is a key inhibitor of mineralization found in PXE. Several new ideas have resulted from these recent discoveries, some leading to potential therapeutic areas. These potential targets may prove to mitigate some of the morbidity associated with the disease. Drug repurposing, use of already approved drugs and novel therapeutics are all being considered. A recent meeting of affected individuals resulted in research priorities set through a patient centered outcomes process. These will also be considered at this meeting.
