Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Biomarker for Niemann Pick Type C Disease an International, Multicenter, Epidemiological Study
Brief Summary:
Niemann Pick Syndrome Type C is a lysosomal storage disorder, caused by a pathological overload of cells with unesterified cholesterol as a result of impaired lipid transport into the cell, has still the problem of the difficulties of a simple and reliable analysis for the primary diagnosis but also for the follow-up of the disease. Therefore the primary aim of our project called "BioNPC" is the development of a new plasma biomarker for the early and sensitive diagnosis of the disease. The secondary aim is the testing for clinical robustness, specificity and long-term stability of the biomarker.
Within the scope of the study the investigators would like to collect in the next 12 months from about 80 patient's plasma and parallel a simple documentation of the clinical data.