The goal of ProFFIle is to identify indicators of a disease process underway (biomarkers) in easily accessible body fluids of individuals at risk of fatal familial insomnia (FFI). This rare genetic prion disease manifests unpredictably during adulthood, invariably leading to death. ProFFIle aims at identifying early changes in the blood and urine of carriers of the FFI mutation, which may help predict the onset and clinical course of the disease. This will be essential for testing potential drugs, because by measuring biomarker levels in body fluids, it may be possible to decide when to start the treatment and to monitor its efficacy. At the moment, the only way to test whether a drug candidate can prevent or delay the onset of the disease is to treat a relatively large number of healthy carriers, starting many years before the presumed age of disease onset, and monitor them for a long time. Biomarkers that track the disease process in real time could allow shorter or smaller drug trials, and once an effective therapy is discovered, will allow everyone to receive the active drug at the right time during life. Thus, the results of ProFFIle may have a major impact on the lives of individuals at risk of FFI and other prion diseases, which share the same disease mechanism.
Measure potential plasma biomarkers in longitudinal samples of FFI carriers
Optimize amplification techniques to detect prions in FFI body fluids
Search for new biomarkers in brain-derived extracellular vesicles
Correlate biomarker and pathological changes in a new FFI mouse model
*An innovative and easy-to handle clinical computational tool tailored to allow clinicians to assign their patients to a specific cluster, thus making a correct diagnosis and orienting among treatment options as to recruit the right patient into the right trial will be developed.
If proven effective, the approach proposed in DECODE could be applied for implementation of personalized medicine in other rare diseases as well as in more common heterogeneous diseases such as cardiovascular diseases, diabetes, autoimmune diseases.