Text Size
Trial record 5 of 6 for:    Peutz-Jeghers Syndrome
Previous Study | Return to List | Next Study

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: July 25, 2012
Last verified: July 2012
History of Changes
  Purpose

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.


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

Study Type: Observational
Study Design: Observational Model: Cohort
Official Title: Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC).

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • 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 ]

Secondary Outcome Measures:
  • 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 ]

Biospecimen Retention:   Samples With DNA

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


Enrollment: 133
Study Start Date: January 2008
Estimated Study Completion Date: March 2015
Estimated Primary Completion Date: January 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
CNC
Primary pigmented nodular adrenocortical disease (PPNAD) and the Carney complex (CNC)
MC-L
cardiac myxoma or isolated lentiginosis

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).

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Consultations

Criteria

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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00668291

Locations
France
Hôpital Cochin
Paris, France, 75679
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Jerome Bertherat, MD PH Assistance Publique - Hôpitaux de Paris
  More Information

Publications:

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT00668291     History of Changes
Other Study ID Numbers: P060251
Study First Received: April 25, 2008
Last Updated: July 25, 2012
Health Authority: France: Ministry of Health

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Endocrinology, CARNEY Complex,
primary pigmented nodular adrenocortical disease (PPNAD),
PRKAR1A

Additional relevant MeSH terms:
Peutz-Jeghers Syndrome
Neoplastic Syndromes, Hereditary
Lentigo
Myxoma
Carney Complex
Melanosis
Hyperpigmentation
Pigmentation Disorders
Skin Diseases
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Neoplasms
 Heart Neoplasms
Thoracic Neoplasms
Neoplasms by Site
Heart Diseases
Cardiovascular Diseases
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Intestinal Polyposis
Intestinal Diseases
Gastrointestinal Diseases
Digestive System Diseases
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on May 23, 2013