Natural History of Familial Cerebral Cavernous Malformations: the CCM_Italia Cohort Study

Condition(s) studied

Investigational drug(s) / intervention(s)

Cerebral imaging (MRI) according to a dedicated protocol with central MRI reading: Cerebral MRI according to dedicated protocol, central MRI reading.

Determination of circulating biomarkers: High-throughput molecular analysis will be performed on plasma samples collected assessing a selected panel of biomarkers, associated with endothelial cell profiles using automated and high-throughput ELISA. The interactions between mutation profile, protein biomarkers, and clinical variables will be correlated with patients' outcomes.

Study summary

Patients with symptomatic and asymptomatic familial cerebral cavernous malformation (fCCM) will be included. The goal of this observational study is to learn about the long-term evolution of this condition. The subjects enrolled will be followed for two years and will undergo an annual neurological examination with the recording of clinical events, a brain MRI according to a dedicated protocol, and a blood draw for the determination of circulating biomarkers. They will also be asked to complete questionnaires on quality of life. The data derived from the study will allow for a better understanding of the natural history of the disease and the identification of neuroradiological and/or circulating biomarkers capable of predicting the clinical evolution of the condition.

Eligibility

Primary outcome measure(s)

• Occurrence of CCM-related clinical events — 24 months
  New occurrence of intracerebral haemorrhage (ICH) or focal neurological deficits (FNDs)

Trial sites (6)

More Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico trials in Italy