Evaluation Nationale Des Enfants et Adultes Avec Syndromes d'Hypercroissance Dysharmonieuse National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 28
- 试验地点
- 1
- 主要终点
- Description of patients with overgrowth syndromes
研究概览
简要总结
Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are not inherited but occurs during embryogenesis leading to somatic mosaicism. Owing to the variability of the clinical presentation, their exact prevalence is yet unknown. In order to answer this question, the investigators team create here the first French national registry on overgrowth syndromes.
详细描述
Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are not inherited but occurs during embryogenesis leading to somatic mosaicism. Owing to the variability of the clinical presentation, their exact prevalence is yet unknown. In order to answer this question, the investigators team create here the first French national registry on overgrowth syndromes.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Affiliated to the French healthcare insurance system.
- •Pediatric and adult patients
- •Clinical diagnosis of overgrowth syndrome
- •Written informed consent from adult patients and from both parents of pediatric patients.
排除标准
- •Person subject to a judicial safeguard measure
- •Inability to give informed consent
结局指标
主要结局
Description of patients with overgrowth syndromes
时间窗: 5 years
Clinical and molecular characterization of patients with overgrowth syndromes will be performed.
次要结局
- Prevalence of overgrowth syndromes in France(5 years)
- Biobanking of samples derived from patients with overgrowth syndromes(5 years)
- Description of patient cares: mumber of consultations and hospitalizations, number of treatment lines, grouping of patients by type of course (clusters)(5 years)
- Economic evaluation of cares for patients with overgrowth syndromes: cost of care, per period and cumulative.(5 years)