What is Niemann-Pick Disease Type C?

Niemann-Pick Disease, Type C (NPC) is an ultra rare, panethnic, autosomal recessive, neurodegenerative metabolic storage disease. The disease can trace its history back to 1914. There are two primary gene mutations that cause the disease, NPC1 and NPC2. The disease presents in a very variable way, however most patients exhibit some or all of a number of debilitating conditions.

It is one of the approximately 40 lysosomal storage diseases (LSD). The lysosomes in the body are the cells waste disposal system and can break up anything and digest almost everything. If they are faulty, then it leads to a build up of toxins and materials in the cells of the body which impacts their ability to function and ultimately causes cell death.

Niemann-Pick Disease, Type C (NPC) is an ultra rare, panethnic, autosomal, recessive neurodegenerative metabolic storage disease.

Francis Collins, Director of the NIH “The Language of Life, DNA and the Revolution in Personalised Medicine.”

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"Good policy decisions. Science moves forward at an ever-increasing pace, but the process for establishing appropriate policies for implementation of new scientific findings can be frustratingly slow. A recent survey of the most frequently cited papers in the literature about medical interventions revealed that the median time lag between the earliest publication of a medical discovery and its implementation was 24 years! This horrendous track record must be improved.

Government overseers are charged with evaluating effectiveness of new interventions, and that cannot be left solely to the marketplace - but oversight must continually strive to maintain a balance between protecting the public and encouraging innovation. All too often, that process has tilted toward the conservative side, depriving the public of promising innovations for many years, until a very large number of expensive and duplicative studies are carried out. Our health care system must also be prepared to shift from a focus on treating advanced disease toward reimbursing for preventive care, especially when that can be economically documented to show benefit."