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

This study is ongoing, but not recruiting participants.
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT00668291
First received: April 25, 2008
Last updated: August 1, 2013
Last verified: July 2013

April 25, 2008
August 1, 2013
January 2008
January 2015   (final data collection date for primary outcome measure)
To assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD) [ Time Frame: 6 months ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT00668291 on ClinicalTrials.gov Archive Site
Genotype/phenotype correlation. To determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis. [ Time Frame: 6 months ] [ Designated as safety issue: No ]
Same as current
Not Provided
Not Provided
 
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).

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).

Observational
Observational Model: Cohort
Not Provided
Retention:   Samples With DNA
Description:

2 tubes EDTA 5 mL each (DNA) and 2 tubes heparine 5 mL each (cellular biology)

Non-Probability Sample

Consultations

  • Primary; Complex
  • Pigmented Nodular Adrenocortical Disease, Primary, 1
  • Periorificial Lentiginosis
  • Cardiac Myxoma
Not Provided
  • CNC
    Primary pigmented nodular adrenocortical disease (PPNAD) and the Carney complex (CNC)
  • MC-L
    cardiac myxoma or isolated lentiginosis

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Active, not recruiting
133
March 2015
January 2015   (final data collection date for primary outcome measure)

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
Both
Not Provided
No
Contact information is only displayed when the study is recruiting subjects
France
 
NCT00668291
P060251
No
Assistance Publique - Hôpitaux de Paris
Assistance Publique - Hôpitaux de Paris
Not Provided
Principal Investigator: Jerome Bertherat, MD PH Assistance Publique - Hôpitaux de Paris
Assistance Publique - Hôpitaux de Paris
July 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP