Observational study on familial cerebral cavernous malformations
Official title: Natural History of Familial Cerebral Cavernous Malformations: the CCM_Italia Cohort Study
Run by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico · NCT06983132 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico Academic / other |
| Locations | 6 sites (Bari and 5 other locations) |
| Status | Recruiting |
| Started | November 18, 2024 |
| Main results expected | February 28, 2027 |
| Study ends | February 28, 2027 |
| Registry record updated | May 21, 2025 |
| Trial ID | NCT06983132 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include pediatric and adult patients with genetically confirmed fCCM, whether symptomatic or asymptomatic.
✕Probably not a fit
Patients with conditions that prevent MRI or those participating in other interventional studies may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: While this study is observational and focuses on natural history, similar approaches in other conditions have provided valuable insights, suggesting potential for success.
Who can join: the full rules
Show full inclusion / exclusion 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 it's running
-
Careggi Hospital, Firenze
Florence, Italy Recruiting -
Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
Milan, Italy Recruiting -
San Giovanni di Dio e Ruggi d'Aragona", Salerno
Salerno, Italy Recruiting -
Policlinico di Bari
Bari, Italy Not yet recruiting -
Istituto Giannina Gaslini, Genova
Genova, Italy Not yet recruiting -
Istituto di Ricerche Farmacologiche Mario Negri
Milan, Italy Active not recruiting
Study contacts
- Study coordinator: Silvia Lanfranconi, MD, Neurologist
- Email: silvia.lanfranconi@policlinico.mi.it
- Phone: +390255033802
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.