Clinical research (Dr. med. Milani Deb-Chatterji)
Primary angiitis of the central nervous system (PACNS) is an inflammatory, poorly understood disease affecting the small- and medium-sized vessels of the brain and spinal cord. All age groups may be affected. Given that PACNS can also be a cause of stroke, in particular, it remains an important differential diagnosis in younger (<45 years) adults.
The diagnosis of PACNS is extremely hampered by the paucity of specific clinical symptoms and by the low specificity of the diagnostic approaches. At present, brain biopsy is the only eligible technique to establish a definite diagnosis of PACNS. But, even this gold-standard procedure is hallmarked by a low sensitivity, resulting in a high rate of patients with a highly suspected PACNS compared to their counterparts, the biopsy-proven patients.
Thus, establishing a reliable diagnosis remains challenging and PACNS is often misdiagnosed. Moreover, it is important to exclude other diseases which bear the closest resemblance to PACNS such as reversible cerebral vasoconstriction syndrome (RCVS) or moyamoya disease (MMD), both representing non-inflammatory vasculopathies. However, the potential aggressive course of the disease necessitates a high diagnostic accuracy for safely instituting the required immunosuppressive treatment.
This project focuses on new diagnostic tools, such as potential biomarkers in PACNS which facilitate the diagnostic workup. Our key scientific interest is to identify a panel of biomarkers for PACNS that increase the certainty of the diagnosis.
We already identified the circulating endothelial cells (CECs) and as a novel approach the endothelial progenitor cells (EPCs) in the peripheral venous blood as well as interleukin 17 (IL-17) in the cerebrospinal fluid as very promising diagnostic markers and markers for disease activity in PACNS. In line with our clinical research approaches so far, we established a first data base for PACNS patients with histological evidence. We intend to further expand this data base. Furthermore, we participate in the first international, prospective multi-center registry for systemic and CNS vasculitis (GeVas), in which we are the leading coordinators for CNS vasculitis/PACNS.