Modifiers of disease severity and progression in familial cerebral cavernous malformation (BVMC 6201)

Individuals with Cerebral Cavernous Malformations (CCMs) have clusters of abnormally enlarged blood vessels in the brain and spinal cord. These abnormal clusters may be sporadic or familial (inherited) and can potentially cause problems, such as hemorrhagic strokes, recurrent seizures, neurological deficits, or disabling headaches. However, there is huge variability in disease burden, even among those with the same gene mutation, family, or age, posing a difficult problem for those managing or living with familial CCM. There is currently no FDA-approved medical therapy available for treatment of CCM, although there are a number of promising therapeutics available targeting CCM signaling pathways (VEGF, RhoA kinase, TGF-beta, inflammation) under active pre-clinical investigation and a few in phase 1/2 trials. 

The purpose of this study is to understand the natural history, morbidity, and mortality of people living with familial CCM. In this multi-center, longitudinal study, we collect clinical, genetic, imaging, treatment, and outcome data in people with familial CCM to look for risk factors affecting CCM disease severity and progression. 

For more information about the study
For more information about CCM   
To request a clinic appointment at the UCSF CCM Center of Excellence