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

Assistance Publique - Hôpitaux de Paris

Status

Completed

Conditions

Periorificial Lentiginosis

Cardiac Myxoma

Primary; Complex

Pigmented Nodular Adrenocortical Disease, Primary, 1

Study type

Observational

Funder types

Other

Identifiers

NCT00668291

P060251

Details and patient eligibility

About

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.

Full 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).

Enrollment

133 patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

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 :