CADASIL-Natural HIStory

There is no therapy to prevent the progression of CADASI and current therapeutic research is limited by many barriers.The CADASIL-Natural HIStory project aims at overcoming these limitations 1) to better understand the current practices to manage and treat patients in different European countries, 2) to make a quantum leap in the prediction of individual disease progression with modelling the natural history of the disease, 3) to improve our knowledge of patients’ and families’ concerns and develop a set of patients reported outcomes (PROs), 4) to determine the most relevant imaging or clinical outcomes for future clinical trials at different disease stage, 5) to identify circulating biomarkers associated with white-matter tissue lesions at the earliest stage of the disease, and; 6) to identify sensitive blood/ CSF biomarkers related to the accumulation of Notch3-extracelluar domain or to alterations of mural cells in microvessels for monitoring the vascular disease progression in the brain and measuring therapeutic efficacy.

Our consortiums aims at meeting these different objectives by assembling: 1) patients, families and their representatives from five European countries, 2) clinicians, psychologists and researchers with a large experience of care and studies in CADASIL, 3) clinical, imaging, genetic, and biological data already collected from cohorts totaling over 1000 patients, and 4) unique expertise in clinical neurology, imaging, biology, as well as in methodology.