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

Launched by FONDAZIONE IRCCS CA' GRANDA, OSPEDALE MAGGIORE POLICLINICO · May 20, 2025

Keywords

ClinConnect Summary

The CCM_Italia Cohort Study is a research trial aimed at understanding the long-term effects of familial cerebral cavernous malformations (fCCM), which are abnormal blood vessels in the brain that can lead to various neurological issues. The study will include both patients who have symptoms and those who do not. Over a period of two years, participants will receive annual check-ups, including neurological exams, brain scans (MRIs), and blood tests to look for specific markers. They'll also answer questions about how their condition affects their quality of life. This information will help researchers learn more about how fCCM progresses and may lead to better ways to predict how the disease will affect individuals in the future.

To participate in this study, individuals must have a confirmed genetic mutation linked to fCCM and either be symptom-free or have had previous symptoms like seizures or strokes. Participants must be able to commit to the study's duration and provide consent. However, those with certain medical devices, such as pacemakers, or those involved in other clinical trials may not be eligible. Overall, this study aims to gather important data that could improve understanding and treatment of this condition.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Patients with familial cerebral cavernous malformations (FCCM), documented by mutations in the CCM1, CCM2, or CCM3 genes;
• • Asymptomatic patients or those with a history of clinical symptoms or events, such as intracerebral hemorrhage, stroke, permanent or transient focal deficits, seizures, disability, or any other neurological symptom presumably related to CCM;
• • Life expectancy at least equal to the duration of the study follow-up;
• • Written informed consent from the patient (or guardian in the case of minors) to participate in the study.
• Exclusion Criteria:
• • Implanted pacemaker or any other condition that precludes magnetic resonance imaging;
• • Participation in another ongoing interventional clinical study;
• • Inability to cooperate with the study procedures.