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CompletedNCT00668291EVACARNEYUpdated Nov 20, 2025

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

An observational study in Primary; Complex, Pigmented Nodular Adrenocortical Disease, Primary, 1 and Periorificial Lentiginosis, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Per ClinicalTrials.gov, last updated 2025-11-20.

Sponsored by Assistance Publique - Hôpitaux de Paris · Observational

Study type
Observational
Model
Cohort
Time perspective
Other
Enrollment
133
Sex
All
01

Study 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.

Read the 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).

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Conditions studied

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

Keywords

  • Endocrinology, CARNEY Complex,
  • primary pigmented nodular adrenocortical disease (PPNAD),
  • PRKAR1A
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In context

Lead sponsor

Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Consultations

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

Exclusion criteria :

CNC group and MC-L group:

  • refusal or incapacity to take part in the study
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Study design

Observational model
Cohort
Time perspective
Other
Enrollment
133 participants (actual)
Biospecimen retention
Samples with dna

Groups and cohorts

  • CNC

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

  • MC-L

    cardiac myxoma or isolated lentiginosis

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What researchers measure

Primary outcomes

  1. To assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD)

    Time frame: 6 months

Secondary outcomes

  1. Genotype/phenotype correlation. To determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis.

    Time frame: 6 months

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Study locations

1 site
  • Hôpital Cochin
    Paris, 75679, France
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References and documents

Publications

  • 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. PubMed 31912137 ↗
  • Bertherat J. Carney complex (CNC). Orphanet J Rare Dis. 2006 Jun 6;1:21. doi: 10.1186/1750-1172-1-21. PubMed 16756677 ↗
  • 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. PubMed 10973256 ↗
  • 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. PubMed 4010501 ↗
  • Vaduva P, Violon F, Jouinot A, Bouys L, Espiard S, Bonnet-Serrano F, North MO, Cardot-Bauters C, Raverot G, Hieronimus S, Lefebvre H, Nunes ML, Tabarin A, Groussin L, Assie G, Sibony M, Vantyghem MC, Pasmant E, Bertherat J. Carney complex predisposes to breast cancer: prospective study of 50 women. Eur J Endocrinol. 2024 Feb 1;190(2):121-129. doi: 10.1093/ejendo/lvae010. PubMed 38252880 ↗
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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Nov 20, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00668291
Lead sponsor
Assistance Publique - Hôpitaux de Paris
Collaborators
URC-CIC Paris Descartes Necker Cochin
Responsible party
Sponsor
First posted
Apr 29, 2008
Start date
Jan 2008
Primary completion
May 2015
Completion
Jan 2016
Last update
Nov 20, 2025

Study contacts

Jerome Bertherat, MD PH
principal investigator · Assistance Publique - Hôpitaux de Paris

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Sep 2025. You cannot join it, but the record below documents what was studied.

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