Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC).
N/A
N/A
Both
Primary; Complex, Pigmented Nodular Adrenocortical Disease, Primary, 1, Periorificial Lentiginosis, Cardiac Myxoma
Trial Information
Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC).
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).
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
Type of Study:
Observational
Study Design:
Observational Model: Cohort
Outcome Measure:
To assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD)
Outcome Time Frame:
6 months
Safety Issue:
No
Principal Investigator
Jerome Bertherat, MD PH
Investigator Role:
Principal Investigator
Investigator Affiliation:
Assistance Publique - Hôpitaux de Paris
Authority:
France: Ministry of Health
Study ID:
P060251
NCT ID:
NCT00668291
Start Date:
January 2008
Completion Date:
March 2015
Related Keywords:
- Primary; Complex
- Pigmented Nodular Adrenocortical Disease, Primary, 1
- Periorificial Lentiginosis
- Cardiac Myxoma
- Endocrinology, CARNEY Complex,
- primary pigmented nodular adrenocortical disease (PPNAD),
- PRKAR1A
- Lentigo
- Myxoma
- Carney Complex
- Peutz-Jeghers Syndrome
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