Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia

NCT ID: NCT02810496

Last Updated: 2026-01-21

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

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

150 participants

Study Classification

INTERVENTIONAL

Study Start Date

2012-04-02

Study Completion Date

2016-12-31

Brief Summary

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As the investigators observed a case of glucocorticoid mutation revealed by incidentally discovered bilateral adrenal nodular hyperplasia, it was postulated that this molecular anormality could be more frequent than previously described. To validate this hypothesis, it was decided to study 150 multicenter consecutive patients, presenting with incidentally discovered bilateral adrenal masses without clinical signs of Cushing's disease. In all these patients GR gene will be studied, mutations will be detected and described, functional disturbance will be tested. Usual polymorphisms will be described. Correlation between clinical signs, hormonal and morphological abnormalities and presence or absence of GR mutations will be searched.

Detailed Description

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Conditions

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General Glucocorticoid Resistance

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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patient

Group Type EXPERIMENTAL

blood collection for mutation characterization

Intervention Type GENETIC

Interventions

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blood collection for mutation characterization

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* patients more than 18 years of age
* patients with bilateral adrenal masses

Exclusion Criteria

* Refusing to participate in the study
* Protected by law
* Have obvious signs of Cushing's syndrome
* No progressive neoplastic disease
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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CHU de Reims

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Chu Reims

Reims, , France

Site Status

Countries

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France

References

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Vitellius G, Delemer B, Caron P, Chabre O, Bouligand J, Pussard E, Trabado S, Lombes M. Impaired 11beta-Hydroxysteroid Dehydrogenase Type 2 in Glucocorticoid-Resistant Patients. J Clin Endocrinol Metab. 2019 Nov 1;104(11):5205-5216. doi: 10.1210/jc.2019-00800.

Reference Type BACKGROUND
PMID: 31225872 (View on PubMed)

Vitellius G, Trabado S, Hoeffel C, Bouligand J, Bennet A, Castinetti F, Decoudier B, Guiochon-Mantel A, Lombes M, Delemer B; investigators of the MUTA-GR Study. Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study. Eur J Endocrinol. 2018 Apr;178(4):411-423. doi: 10.1530/EJE-17-1071. Epub 2018 Feb 14.

Reference Type RESULT
PMID: 29444898 (View on PubMed)

Other Identifiers

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PN11010

Identifier Type: -

Identifier Source: org_study_id

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