Novel Approaches to Molecular and Clinical Surveillance in Li-Fraumeni Syndrome - Pilot Study.
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 30
- 试验地点
- 2
- 主要终点
- Evaluation of imaging traits on suspected tumors
研究概览
简要总结
Li-Fraumeni Syndrome (LFS) is a cancer predisposition disorder in which most affected individuals develop cancer during their lifetime. The majority of LFS patients carry a mutation in a gene called TP53, whose normal function is to control cell growth and prevent cells with damaged DNA from becoming cancerous. There is currently no way to determine when, where or what type of tumour will develop. This project will use novel techniques utilizing magnetic resonance imaging (MRI) to determine how sensitive they are at detecting very small tumors and how specific they are in terms of distinguishing malignant tumors from benign tumors.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •LFS kindreds who either carry a known TP53 mutation or are obligate mutation carriers
排除标准
- •General contraindications for an MRI scan (ferromagnetic prostheses, pacemaker, or other implants incompatible with the magnetic field of the MR scanner), claustrophobia.
结局指标
主要结局
Evaluation of imaging traits on suspected tumors
时间窗: Through study completion, an average of 2 years
Imaging traits include: signal heterogeneity, mass effect, and neurovascular bundle involvement (recorded on STIR MRI); necrosis, and signal/necrosis ratio (recorded on STIR and DW MRI): FDG metabolic activity and uptake (PET-MRI) or other additional imaging findings. Results will be combined and analyzed for "extraction" of imaging-gene expression phenotypes.
次要结局
未报告次要终点
研究者
Andrea Doria
Radiologist, Senior Scientist, Research Director, Department of Diagnostic Imaging
The Hospital for Sick Children