Clinical trial NCT00668291: Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC)
Official title: Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC).
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Primary; Complex
Pigmented Nodular Adrenocortical Disease, Primary, 1
Periorificial Lentiginosis
Cardiac Myxoma
Keywords: Endocrinology, CARNEY Complex,
primary pigmented nodular adrenocortical disease (PPNAD),
PRKAR1A
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2008-04-29
Enrollment: 133
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Consultations

Brief 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.

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 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

Primary outcomes:
measure: To assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD)
timeFrame: 6 months
Secondary outcomes:
measure: Genotype/phenotype correlation. To determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis.
timeFrame: 6 months
Other outcomes:
Locations:
city: Paris
country: France
facility: Hôpital Cochin
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Jerome Bertherat, MD PH
role: PRINCIPAL_INVESTIGATOR
References:
citation: Bertherat J. Carney complex (CNC). Orphanet J Rare Dis. 2006 Jun 6;1:21. doi: 10.1186/1750-1172-1-21.
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. doi: 10.1038/79238.
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. doi: 10.1097/00005792-198507000-00007.
citation: Espiard S, Vantyghem MC, Assie G, Cardot-Bauters C, Raverot G, Brucker-Davis F, Archambeaud-Mouveroux F, Lefebvre H, Nunes ML, Tabarin A, Lienhardt A, Chabre O, Houang M, Bottineau M, Stroer S, Groussin L, Guignat L, Cabanes L, Feydy A, Bonnet F, North MO, Dupin N, Grabar S, Duboc D, Bertherat J. Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up. J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa002. doi: 10.1210/clinem/dgaa002.