Natural History of Familial Cerebral Cavernous Malformations: the CCM_Italia Cohort Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 6
- 主要终点
- Occurrence of CCM-related clinical events
研究概览
简要总结
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.
详细描述
CCM_Italia is an observational non interventional national multicentric registry.
Patients will be enrolled prospectively and followed for a 2 years period through annual neurological evaluation, cerebrale MRI according to dedicated protocol (central reading) and blood sample to assess circulating biomarkers.
The study has been funded by National Recovery and Resilience Plan.
In the contest of the present study, pediatric and adult patients affected by genetically confirmed fCCM will be enrolled according to the inclusion and exclusion criteria which have been developed to include a large number of fCCM patients, representative of the heterogeneity of fCCM disease, spanning from the asymptomatic to the high-risk cases.
This registry is primarily designed to collect real-world data without influencing or interfering with the standard clinical practice and external monitoring is not planned. Since the data collection process is passive and observational by nature, the risk to patient safety and data integrity is minimal compared to interventional studies. Internal data quality controls and oversight mechanisms are planned. The use of standardized protocols for data entry ensures consistency across all entries. This reduces variability caused by different personnel and minimizes errors in recording patient information, pathology findings, and other relevant data. We plan periodic audits of the registry data helps identify discrepancies, incomplete records, or inconsistencies. Cross-checking data entries against source documents or original reports will minimize data loss.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Occurrence of CCM-related clinical events
时间窗: 24 months
New occurrence of intracerebral haemorrhage (ICH) or focal neurological deficits (FNDs)
次要结局
- Other clinical manifestations(24 months)
- Neuroradiological markers of disease progression(24 months)
- Circulating biomarkers(24 months)