Observational study on familial cerebral cavernous malformations

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

This study is looking at how familial cerebral cavernous malformations affect people over time, by following both those who have symptoms and those who don’t, to see how it impacts their health and quality of life.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Sex: All
• Sponsor: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico (Academic / other)
• Locations: 6 sites (Bari and 5 other locations)
• Trial ID: NCT06983132 on ClinicalTrials.gov

What this trial studies

This observational study aims to understand the long-term evolution of familial cerebral cavernous malformations (fCCM) by enrolling patients with both symptomatic and asymptomatic conditions. Participants will be followed for two years, undergoing annual neurological examinations, brain MRIs, and blood draws to assess circulating biomarkers. Additionally, quality of life questionnaires will be completed to gather comprehensive data on the condition's impact. The study is designed to collect real-world data without interfering with standard clinical practices, ensuring minimal risk to patient safety.

Who should consider this trial

Good fit: Ideal candidates include pediatric and adult patients with genetically confirmed fCCM, whether symptomatic or asymptomatic.

Not a fit: Patients with conditions that prevent MRI or those participating in other interventional studies may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better understanding and management of familial cerebral cavernous malformations.

How similar studies have performed: While this study is observational and focuses on natural history, similar approaches in other conditions have provided valuable insights, suggesting potential for success.

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.

Where this trial is running

Bari and 5 other locations

• Policlinico di Bari — Bari, Italy (Not_yet_recruiting)
• Careggi Hospital, Firenze — Florence, Italy (Recruiting)
• Istituto Giannina Gaslini, Genova — Genova, Italy (Not_yet_recruiting)
• Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy — Milan, Italy (Recruiting)
• Istituto di Ricerche Farmacologiche Mario Negri — Milan, Italy (Active_not_recruiting)
• San Giovanni di Dio e Ruggi d'Aragona", Salerno — Salerno, Italy (Recruiting)

Study contacts

• Study coordinator: Silvia Lanfranconi, MD, Neurologist

Conditions CCM; Familial Cerebral Cavernous Malformation; fCCM