Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC).
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 133
- 试验地点
- 1
- 主要终点
- To assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD)
研究概览
简要总结
Cohort CNC-PPNAD will be investigated with clinical, genetic, biological and imaging work-up every year during 3 years. Cohort L-MC will be investigated clinically at inclusion and a PERKAR1A genotype will be performed.
详细描述
The primary aim is to assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD) in patients with CNC, isolated PPNAD or carriers of PRKAR1A and PPNAD1 (PDE11A4) germline mutation (Cohort CNC-PPNAD). In this cohort genotype/phenotype correlation will be studied. A second aim is to determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis (Cohort L-MC).
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
- •CNC group :
- •patient with the CARNEY complex (CNC) or the primary pigmented nodular adrenocortical disease (PPNAD) or a germinal mutation of the gene of CARNEY Complex or PPNAD.
- •No age criteria
- •Inform consent of the patient or the parental authority collected
- •Realization of a preliminary medical examination
- •Affiliated with a social security system ( profit or having right)
- •MC-L group :
- •Patient with periorificial lentiginosis or cardiac myxoma
- •or previous history of periorificial lentiginosis or cardiac myxoma
- •age > or = 18 years old
- •Realization of a preliminary medical examination
- •Affiliated with a social security system ( profit or having right)
- •Exclusion criteria :
- •CNC group and MC-L group:
- •refusal or incapacity to take part in the study
排除标准
- 未提供
结局指标
主要结局
To assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD)
时间窗: 6 months
次要结局
- Genotype/phenotype correlation. To determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis.(6 months)