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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

133 participants

Study Classification

OBSERVATIONAL

Study Start Date

2008-01-31

Study Completion Date

2016-01-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Calcinosis in a Single-Center Scleroderma Population

NCT02062125

Scleroderma Calcinosis

COMPLETED

Optical Coherence Tomography Imaging in Systemic Sclerosis

NCT04532151

Systemic Sclerosis Early Systemic Sclerosis Without Clinical Scleroderma and Onset < 2 Years

COMPLETED NA

Novel Screening Strategies for Scleroderma PAH

NCT01959815

Pulmonary Arterial Hypertension Scleroderma

COMPLETED

Evaluation of Aesthetic Impact in Patients With Systemic Sclerosis

NCT03271320

Systemic Sclerosis

COMPLETED

Diagnostic Role of Renal Biopsy in Patients With Fabry Disease

NCT06801288

Fabry Disease

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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).

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

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

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

CNC

Primary pigmented nodular adrenocortical disease (PPNAD) and the Carney complex (CNC)

No interventions assigned to this group

MC-L

cardiac myxoma or isolated lentiginosis

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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)