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

Primary; Complex Clinical Trial

— EVACARNEY  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00668291
• Other study ID #: P060251
• Status: Completed
• Phase: N/A
• First received: April 25, 2008
• Last updated: July 5, 2016
• Start date: January 2008
• Est. completion date: January 2016

Study information

• Verified date: July 2016
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Ministry of Health
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 133
• Est. completion date: January 2016
• Est. primary completion date: May 2015
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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

Study Design

Observational Model: Cohort

Related Conditions & MeSH terms

• Adrenal Cortex Diseases
• Cardiac Myxoma
• Carney Complex
• Lentigo
• Periorificial Lentiginosis
• Peutz-Jeghers Syndrome
• Pigmented Nodular Adrenocortical Disease, Primary, 1
• Primary; Complex

Locations

Country	Name	City	State
France	Hôpital Cochin	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

References & Publications (3)

Bertherat J. Carney complex (CNC). Orphanet J Rare Dis. 2006 Jun 6;1:21. Review. — View Citation

Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore). 1985 Jul;64(4):270-83. — View Citation

Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000 Sep;26(1):89-92. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	To assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD)		6 months	No
Secondary	Genotype/phenotype correlation. To determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis.		6 months	No