Cerebral Cavernous Malformations: the CCM Italia research network offers new therapeutic perspectives

Cerebral Cavernous Malformation (CCM), also known as Cavernous Angioma or Cavernoma, is a major cerebrovascular disease characterized by abnormally enlarged and leaky capillary cavities (caverns) that may occur in either sporadic or hereditary forms and predispose to a plethora of serious clinical symptoms, including recurrent headaches, seizures, neurological deficits, stroke, and intracerebral hemorrhage. CCM lesions may be single or multiple (even hundreds), ranging in size from a few millimeters to a few centimeters. Symptomatic disease typically begins in the third through fifth decades of life, although symptomatic lesions have been described in all age groups with no sex predominance. Diagnosis is made by magnetic resonance imaging (MRI). The CCM disease has been recognized as a common clinical entity: its prevalence in the general population ranges between 0.3% and 0.5%, accounting for approximately 24 million people worldwide, with a major impact on quality of life and significant socio-economical consequences. Nevertheless, knowledge and risk awareness of this disease is still poor within the society and very low even among medical doctors. To date, there are not direct therapeutic approaches, besides the surgical removal of accessible lesions in patients with recurrent hemorrhage or intractable seizures. To find insights and facilitate breakthroughs into CCM pathogenesis mechanisms and their translational implementation, we established the CCM_Italia multidisciplinary research network (http://www.ccmitalia.unito.it/), which is composed of clinical and research centers located in distinct Italian regions. Through the integrated cooperation of clinicians and researchers with complementary expertise and interests related to distinct aspects of the CCM disease, we contributed significantly to the characterization of molecular mechanisms underlying CCM disease, providing fundamental insights into the development of novel, safe and effective therapeutic strategies.