Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) — EVACARNEY  

Primary; Complex Clinical Trial

Official title: Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC).

Status Completed

Clinical Trial Summary

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.

Clinical Trial Description

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). ;

Study Design

Observational Model: Cohort

Related Conditions & MeSH terms

• Adrenal Cortex Diseases
• Cardiac Myxoma
• Carney Complex
• Lentigo
• Periorificial Lentiginosis
• Peutz-Jeghers Syndrome
• Pigmented Nodular Adrenocortical Disease, Primary, 1
• Primary; Complex

• NCT number: NCT00668291
• Study type: Observational
• Source: Assistance Publique - Hôpitaux de Paris
• Status: Completed
• Phase: N/A
• Start date: January 2008
• Completion date: January 2016