National Register of Actionable Mutations - Rational Study
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 2,098
- 试验地点
- 43
- 主要终点
- rate of actionable mutations identified with NGS
研究概览
简要总结
The goal of this observational study is the creation of a national network of precision medicine, which allows to increase, for Italian patients suffering from solid tumors, the possibility of access to more innovative therapies and to collect retrospectively their clinical data.
For this purpose, a national register of actionable mutations in patients with solid tumors in advanced stage of disease will be created in which various individual, local and regional initiatives of genomic screening of cancer could merge.
详细描述
The primary objective of this observational study is to describe the frequency of actionable mutations in patients with solid tumors in advanced stage, receiving a genetic-molecular characterization with high throughput methods.
The secondary objectives are:
- assess the correlation between genetic alterations and clinical and pathological characteristics of enrolled patients (gender, age, histological variant, location and extent of neoplasm, comorbidity, familiarity for neoplasms);
- describe, where possible, any variation in the molecular profile for patients who are subjected to genetic screening analysis at different stages of the disease.
- record retrospectively clinical efficacy and toxicity data when patients were treated with a target therapy based on the detected molecular alterations.
The national register of actionable mutations will be created collecting the following data:
- Data extracted retrospectively from medical records of patients that have received during the study period a test with high-throughput technologies for the molecular characterization of their tumor, either by clinical routine or for research purposes.
- Data collected prospectively from analysis of biological samples (FFPE and biopsy liquid) of patients that meet the elibility criteria and that perform the molecular-genetic screening using Foundation Medicine services or in selected italian laboratories.
- Clinical data collected retrospectively (RR, DOR, PFS, OS, toxicity), in case where the patients are treated with a target therapy, based on the highlighted molecular alterations and on the choice of the clinician.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •General Inclusion Criteria for all patients:
- •Age >18 years old
- •Life expectancy 6 months
- •ECOG performance status 2
- •Diagnosis of malignant solid tumor, in advanced stage
- •Informed consent to data registration and for privacy purposes
- •Additional inclusion criteria for patients that have already carried out a genetic characterisation extended by high throughput methods:
- •● Availability of the result of the broad spectrum analysis of genetic alterations carried out with high throughput methods on biological samples
- •Additional inclusion criteria for patients that perform the molecular-genetic screening using Foundation Medicine services or in selected italian laboratories:
- •one of the following criteria:
- •Patients diagnosed with NSCLC not squamous, not pretreated;
- •Patients with biliary tract, pancreatic, esophagus, stomach, thymus, CNS, nasopharynx, salivary glands, endometrium and urothelium cancers;
- •Patients with any disease (including NSCLC) who are progressing disease after treatment with molecular target drugs. For these patients is the availability of a post- treatment biological sample is necessary;
- •Patients with cancer of unknown primary (CUP);
- •Young patients (<40 years) or patients who have exhausted standard lines of therapy, with any advanced/metastatic tumor which, in the opinion of the investigator, may benefit from a genetic-molecular characterization at broad spectrum aimed at a treatment with molecular target therapies.
- •availability of biological material for testing.
- •informed consent for testing.
排除标准
- •for patients that perform the molecular-genetic screening using Foundation Medicine services or in selected italian laboratories:
- •● patients who have already received NGS or other high throughput in the same stage of disease.
结局指标
主要结局
rate of actionable mutations identified with NGS
时间窗: from October 2018 to study completion, 2 years after the last enrolled patient
information on somatic mutations obtained by analysis of neoplastic tissue samples and/or liquid biopsy (circulating tumor DNA extracted from the patient's plasma).
次要结局
未报告次要终点