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

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.

NCT Number	NCT06983132
Lead Sponsor	Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico Collaborators: Mario Negri Institute for Pharmacological Research, Istituto Giannina Gaslini, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Azienda Ospedaliero-Universitaria Careggi, University of Bari, Azienda Ospedaliera OO.RR. S. Giovanni di Dio e Ruggi D'Aragona
Conditions	CCM, Familial Cerebral Cavernous Malformation
Enrollment	100 participants
Start Date	2024-11-18
Primary Completion	2027-02-28 (estimated)
Study Completion	2027-02-28 (estimated)
Updated on ClinicalTrials.gov	2025-05-21