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

Study Overview
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Brief Summary
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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
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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).

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

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

Participation Criteria
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Eligibility Criteria
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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
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| CNC<br>Primary pigmented nodular adrenocortical disease (PPNAD) and the Carney complex (CNC) | |
| MC-L<br>cardiac myxoma or isolated lentiginosis | |

What is the study measuring?
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Primary Outcome Measures

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

Secondary Outcome Measures

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

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Endocrinology, CARNEY Complex,, primary pigmented nodular adrenocortical disease (PPNAD),, PRKAR1A