Clonal Architecture of ASXL1-mutated Myelofibrosis
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
- 13
- 主要终点
- Identify subgroups of ASXL1-mutated myelofibrosis based on clonal architecture data
研究概览
简要总结
Prospective study to decipher the clonal architecture of ASXL1-mutated primary and secondary myelofibrosis and its impact on prognosis
详细描述
The clonal architecture of myelofibrosis patients is still little described. Inconsistent results in terms of the prognostic value of some mutations are observed in the literature, in particular concerning ASXL1 mutations. We assume that a better understanding of the clonal architecture of ASXL1-mutated myelofibrosis could help refining the prognostic impact of ASXL1 mutations.
This study aims to evaluate a multicenter cohort of 50 patients. Blood of patients will be collected within 18 months of diagnosis. After 4 years of follow-up of the patient as part of his usual care, data on survival and leukemic transformation will be collected.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
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
- •Adults (age ≥18 years),
- •Affiliated to the national social security system,
- •ASXL1 mutated primary or secondary myelofibrosis,
- •Signed the consent to participate in the study,
- •Included, or consenting to be included, in the national clinical-biological database of France Intergroupe Syndrome Myéloprolifératifs (FIM).
排除标准
- •Patient with another active hematological disease or cancer at the time of diagnosis,
- •Person subject to legal protection scheme or incapable of giving consent.
研究组 & 干预措施
CLONEMF cohort
干预措施: Clonal architecture determination (Biological)
结局指标
主要结局
Identify subgroups of ASXL1-mutated myelofibrosis based on clonal architecture data
时间窗: 24 months
The clonal architecture is defined by the number of mutations (numerical), the order of acquisition of the mutations (categorial, pre/post/separated), the mutational branching (categorial, yes/no), the presence of distinct clones (categorial, yes/no) and the transition towards homozygosity of each clone (categorial, yes/no). All parameters of clonal architecture will be analyzed together using a multivariate classification (Factor Analysis for Mixed Data) followed by a clustering which allow us to identify homogeneous cluster of patients.
次要结局
- Description of previously constituted prognostic genomic groups (according to Luque Paz et al. 2021) within identified clusters of clonal architecture(24 months)
- Studying the functional characteristics of each subtype of clonal architecture by transcriptomics(24 months)
- Comparison of male proportion within the subtypes of clonal architecture(24 months)
- Comparison of splenomegaly proportion within the subtypes of clonal architecture(24 months)
- Evaluation of overall survival of the patients at 4 years according to their clonal architecture profile(72 months)
- Comparison of age at the time of diagnosis within the subtypes of clonal architecture(24 months)
- Comparison of blood counts within the subtypes of clonal architecture(24 months)
- Comparison of LDH levels within the subtypes of clonal architecture(24 months)
- Comparison of constitutional symptoms proportion within the subtypes of clonal architecture(24 months)
- Evaluation of the leukemia-free survival of the patients at 4 years according to their clonal architecture profile(72 months)