Clinical trial · Observational
Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC)
Assessment of the Clinical Symptoms of the Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC).
NCT00668291CI-TRIAL-00097599EVACARNEYcompletedClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cardiac Myxoma | Cardiac Myxoma | ONTOLOGY_EXACT | 0.98 |
| Periorificial Lentiginosis | — | UNRESOLVED | — |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 | — | UNRESOLVED | — |
| Primary; Complex | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (2)
- label
- CNC
- description
- Primary pigmented nodular adrenocortical disease (PPNAD) and the Carney complex (CNC)
- label
- MC-L
- description
- cardiac myxoma or isolated lentiginosis
Primary outcomes (1)
- 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 (1)
- measure
- Genotype/phenotype correlation. To determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis.
- timeFrame
- 6 months
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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
References
Publications (5)
- RESULTEspiard 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. PMID 31912137
- RESULTBertherat J. Carney complex (CNC). Orphanet J Rare Dis. 2006 Jun 6;1:21. doi: 10.1186/1750-1172-1-21. PMID 16756677
- RESULTKirschner 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. PMID 10973256
- RESULTCarney 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. PMID 4010501
- DERIVEDVaduva 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. PMID 38252880