Joint and Hematologic Disorders of Noonan Syndrome: French Descriptive Cross-sectional Study (NOORHA)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 71
- 试验地点
- 4
- 主要终点
- Description of joint and hematologic disorders in patients with Noonan syndrome clinically confirmed by Van der Burgt criteria.
研究概览
简要总结
Noonan's syndrome is a rare genetic disease, estimated to be between 1: 1000 to 1: 2500 and characterized by cardiothoracic malformations, sometimes mental retardation, but also by hematologic abnormalities and joint involvement. These are poorly described in the literature. The aim of this work is therefore to describe the frequency and type of these manifestations in the French pediatric population and to compare patients with and without these disorders.
详细描述
Noonan Syndrome is a genetic disease whose prevalence is not clearly defined and would be between 1/1000 and 1/2500.
Affected patients have various morphological abnormalities, cardiothoracic malformations, sometimes mental retardation, but also haematological abnormalities and joint damage.
Diagnostic criteria have been proposed among which, the most used are van der Burgt's criteria.
Genetics is heterogeneous. A genetic abnormality can be found in 75% of cases. Affected genes encode proteins involved in the RAS / MAPK pathway (Mitogen Activated Protein Kinase), resulting in deregulation of this pathway. The latter is involved in several development processes determining morphotype, organogenesis, synaptic plasticity and growth.
There are also thoracic and abdominal deformities (upper pectus carinatum and inferior excavatum, large nipple spacing), spinal deformities in 30% of cases with a recommended correction in 2/3 of the cases. It is described ulna valgus and genuvalgum.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 0 Years 至 20 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients ≤ 20 years at the time of diagnosis
- •Noonan syndrome confirmed by van der Burgt score
- •At least one consultation in the participating center
排除标准
- •Patient > 20 years old at the time of diagnosis
- •Absence of diagnostic criteria for van der Burgt's Noonan syndrome
- •Other rasopathies
- •Genetic mutations of MEK1, MEK2 and HRAS (which are associated with cardi-faci-cutaneous syndrome and Costello syndrome)
- •Refusal of participation in the study
结局指标
主要结局
Description of joint and hematologic disorders in patients with Noonan syndrome clinically confirmed by Van der Burgt criteria.
时间窗: Inclusion (Day 0)
hematologic disorders
次要结局
- Comparison of patients with and without joint involvement.(Inclusion (Day 0), Each year)