Hematological Anomalies in Children With Rasopathy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 13
- 主要终点
- Proportion of patients with hematological abnormalities
研究概览
简要总结
During childhood, patients with RASopathies (Noonan syndrome and related diseases) can harbor various hematological anomalies ranging from isolated monocytosis, myelemia, thrombocytopenia or splenomegaly to myeloproliferative disorders. These anomalies may spontaneously disappear or persist, sometimes leading to juvenile myelomonocytic leukemia. Guidelines for initial screening and subsequent hematological follow-up have recently been published in France: peripheral blood analysis should be performed in all newly diagnosed patients and followed by biannual peripheral blood analysis in infants until the age of 2 years.
In order to describe the characteristics of these abnormalities in terms of their incidence, age of occurrence, evolution and relation to genotype, we are conducting a longitudinal prospective study whose aim is to analyze peripheral blood cell counts and smears at diagnosis and one year later. In patients <3 years of age recruited at certain centers, biobanking of mononuclear cells will be performed. These data could yield a new insight into hematological anomalies in patients with RASopathies and thereby help physicians to determine the appropriate rhythm for hematological follow-up according to genotype.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 15 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age < 16 years
- •Patient newly diagnosed with genetically confirmed rasopathy : Noonan syndrome, type 1 neurofibromatosis, Noonan syndrome with multiple lentigines, CBL syndrome, Costello syndrome, cardiofaciocutaneous syndrome or Legius syndrome i.e. with a germline mutation of one of these genes: PTPN11, SOS1, NRAS, RAF1, BRAF, SHOC2, MEK1, MEK2, CBL, NF1, SPRED1, KRAS, HRAS, NF1, SHOC2, LZTR1, SOS2, RIT1, RASA2, RRAS, PPP1CB, or a new gene of interest published during the recruitment period
- •No history of hematological malignancy
- •Written informed consent obtained from the parents
- •Health insurance
排除标准
- •History of malignant hematological pathology
结局指标
主要结局
Proportion of patients with hematological abnormalities
时间窗: at inclusion (within 6 months after diagnosis)
次要结局
- Event-free survival(at 5 years post-inclusion)
- Proportion of patients with hematological abnormalities according to genetic abnormalities(at 1 year after inclusion)
- Proportion of patients with hematological abnormalities according to genetic abnormality(at inclusion (within 6 months after diagnosis))
- Proportion of patients with hematological abnormalities(at 1 year after inclusion)
- Proportion of patients with hematological abnormalities according to age(at 1 year after inclusion)
- Evolution of proportion of patients with hematological abnormalities during childhood(at 5 years post-inclusion)