Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2

Plain-language summary

This study examines cortisol metabolism in people with familial partial lipodystrophy type 2 caused by the R482 codon mutation in the LMNA gene. It enrolled people who carry this genetic diagnosis and who are able to give consent. It was a non-phased study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

University Hospital, Lille

Intervention

Biopsy

Start date

4/19/2022

Estimated completion

11/9/2023

Countries

France

Related genes

Locations

• Lille, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Familia partial lipodystrophy type 2 (FPL2) with the R482 codon mutation of the LMNA gene
* Social insured
* Ability to give consent

Exclusion Criteria:

* urinary incontinence or inability to collect urine for 24 hours
* moderate and severe kidney insufficiency
* hepatic insufficiency
* history of hypercortisolism or adrenal insufficiency
* treatment interfering with the cortisol metabolism: taking oral or inhaled glucocorticoids within the last 6 months
* pregnant and lactating woman.