Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 100
- 主要终点
- Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict overall tumor burden
研究概览
简要总结
The purpose of this study is to find blood plasma based biomarkers of disease progression in neurofibromatosis type 1 (NF1). NF1 is associated with the development of benign cutaneous tumors as well as a variety of malignancies. Analysis of plasma DNA and chemical composition may provide tools for diagnosis and follow-up of NF1. The hypothesis of the study is that NF1-associated tumor burden and malignant transformation of tumors can be detected in plasma. To test this hypothesis, Finnish patients with NF1 are recruited and blood sample is taken. Blood plasma is separated and analyzed chemically. DNA is then also extracted and quantified.
详细描述
Neurofibromatosis type 1 (NF1) is a dominant hereditary multiorgan disease that causes both benign cutaneous neurofibromas and malignant tumors. Timely detection of malignant transformation in NF1 tumors is of great clinical importance. Also methods to easily monitor individual's overall tumor burden would be useful. Blood plasma is collected from NF1 patients and age- and gender-matched controls. The samples are stored at -80 C until analysis. Free circulating plasma DNA is extracted and quantified using commercial reagents. Also a previously described chemical detection method to observe overall changes in plasma composition is utilized. The analysis results are compared between NF1 patients and healthy controls, and also correlated with NF1 tumor burden and diagnosis of malignancy during five-year follow-up.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 85 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Finnish-speaking
- •18-85 years old
- •For NF1 group: Diagnosis of type 1 neurofibromatosis and visit to Turku Neurofibromatosis Centre
- •For control group: Suitable as an age- and gender-matched control for some of the NF1 patients
排除标准
- •Non-Finnish-speaking
- •For control group: diagnosis of neurofibromatosis type 1 or cancer
结局指标
主要结局
Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict overall tumor burden
时间窗: Up to 5 years
Tumor burden assessed by clinician on a four-level scale: 1 = 0-5 neurofibromas, 2 = 6-99 neurofibromas, 3 = 100-500 neurofibromas, 4 = over 500 neurofibromas
Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict clinical diagnosis of malignancy
时间窗: Up to 5 years
Information on clinical diagnoses is obtained from patient records
次要结局
未报告次要终点
研究者
Juha Peltonen
Professor
Turku University Hospital