Preliminary Study With Biological Samples, Single-center, Non-profit, to Identify Biological Mechanisms and Resistance to Therapies in Three-dimensional Models Derived From Brain Tumors in Pediatric Patients.
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Number of Single Nucleotide Variants (SNV)
研究概览
简要总结
Central nervous system tumours are the most common solid tumours and the leading cause of cancer mortality in children, with high biological and prognostic heterogeneity. Despite advances in the 2021 WHO molecular classifications, treatment options remain limited and often ineffective in high-grade tumours. New third-generation sequencing technologies and three-dimensional models derived from patient tumours offer promising tools for more comprehensive genomic characterisation and preclinical evaluation of drug responses. However, the lack of integrated preclinical studies remains a limitation, necessitating coordinated projects to develop personalised therapeutic strategies. The study aims to investigate the genetic and biological characteristics of paediatric brain tumours. To this end, tumour tissue samples taken during planned surgery and peripheral blood samples will be analysed. Advanced genetic analyses will be performed on these materials to identify tumour alterations and the patient's genetic characteristics. In addition, experimental in vitro models derived from the tumour will be developed to evaluate the response to different chemotherapy drugs. The information obtained will be used to better understand the mechanisms of tumour growth and resistance and to promote the future development of more targeted and personalised therapies.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 3 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients aged 3-18 years with suspected brain tumours undergoing neurosurgery
- •No previous bone marrow transplants or other haematological procedures that could potentially interfere with germline analysis.
- •Patients who have not received any systemic anticancer treatment (including chemotherapy, radiotherapy or targeted therapies) prior to enrolment surgery.
- •Signature of informed consent
排除标准
- •Subsequent histological confirmation of non-neoplastic brain pathology (e.g. malformations, inflammatory lesions, demyelinating processes).
- •Insufficient quantity or quality of tumour tissue or peripheral blood for the analyses required by the protocol.
- •Presence of serious clinical conditions, systemic infections or haemodynamic instability that contraindicate the collection of biological samples or inclusion in the study.
研究组 & 干预措施
Pediatric patients with brain tumors
干预措施: Genomic DNA analysis of biological samples (Diagnostic Test)
结局指标
主要结局
Number of Single Nucleotide Variants (SNV)
时间窗: At enrollment and on the date of first documented progression assessed up to 12 months
Number of SNVs germline in DNA from tumor and blood samples
Number of copy number variations (CNVs)
时间窗: At enrollment and on the date of first documented progression assessed up to 12 months
Number of copy number variations (CNVs) in DNA from tumor and blood samples
Number of triplet expansions
时间窗: At enrollment and on the date of first documented progression assessed up to 12 months
Number of triplet expansions in DNA from tumor and blood samples
Number of structural variants (SVs)
时间窗: At enrollment and on the date of first documented progression assessed up to 12 months
Number of structural variants (SVs) in DNA from tumor and blood sample
Morphological description of three-dimensional models derived from the tumour
时间窗: At enrollment and on the date of first documented progression assessed up to 12 months
Vitality of three-dimensional models derived from the tumour
时间窗: At enrollment and on the date of first documented progression assessed up to 12 months
Proliferative activity of three-dimensional models derived from the tumour
时间窗: At enrollment and on the date of first documented progression assessed up to 12 months
Percentage of residual cell vitality after drug treatment
时间窗: At enrollment and on the date of first documented progression assessed up to 12 months
Dose-response curves for each drug tested
时间窗: At enrollment and on the date of first documented progression assessed up to 12 months
Ex vivo chemosensitivity study on three-dimensional models derived from primary tumour cells
次要结局
未报告次要终点
研究者
Iacopo Sardi
Principal Investigator
Meyer Children's Hospital IRCCS