Development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy from blood
Description: New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
Measure: Development of a new MS-based biomarker for the early and sensitive diagnosis of Transthyretin-Related Familial Amyloidotic Polyneuropathy from blood Time: 24 monthsDescription: the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
Measure: Number of correctly identified patients with Transthyretin-Related Familial Amyloidotic Polyneuropathy Time: 36 monthsCohort
There is one SNP
Even though more than 100 point mutations are known to cause the disease, the most common amino acid change is V30M. --- V30M ---