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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00668291

Acronym

EVACARNEY

Enrollment

133

Registered

2008-04-29

Start date

2008-01-31

Completion date

2016-01-31

Last updated

2025-11-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cardiac Myxoma, Periorificial Lentiginosis, Pigmented Nodular Adrenocortical Disease, Primary, 1, Primary; Complex

Keywords

Endocrinology, CARNEY Complex,, primary pigmented nodular adrenocortical disease (PPNAD),, PRKAR1A

Brief 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.

Detailed 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).

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Healthy volunteers

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 : * 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

Design outcomes

Primary

Measure	Time frame
To assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD)	6 months

Secondary

Measure	Time frame
Genotype/phenotype correlation. To determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis.	6 months

Countries

France

Outcome results