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

Completed

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

• Registration Number: NCT00668291
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

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).

Study Timeline

• Study Start: 2008-01
• Study First Submitted: 2008-04-25
• Study First Submitted QC: 2008-04-28
• Study First Posted: 2008-04-29
• Primary Completion: 2015-05
• Study Completion: 2016-01
• Status Verified: 2016-07
• Last Update Submitted: 2016-07-05
• Last Update Posted: 2016-07-06

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 133

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

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Hôpital Cochin; 🇫🇷 Paris, France