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

Assistance Publique - Hôpitaux de Paris133 enrolled

Overview

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.

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 Type

OBSERVATIONAL

Enrollment

133

Conditions

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

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

Hôpital Cochin

Paris, France

Outcomes

Primary Outcomes

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

Time frame: 6 months

Secondary Outcomes

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

Time frame: 6 months

Data from ClinicalTrials.gov

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