Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2 (LIPOCORT)

December 18, 2025 updated by: University Hospital, Lille
Familial partial lipodystrophic syndromes are characterized by an increase in visceral adipose tissue and an atrophy of subcutaneous adipose tissue. They are associated with a severe metabolic syndrome especially when linked to the mutation of the R482 codon of the LMNA gene (Familial partial lipodystrophy type 2, FPL2). Data in lipodystrophy induced by antiretroviral therapy of HIV suggests an increase in the activity of 11β-hydroxysteroid dehydrogenase type 1 (11bHSD1). This enzyme reactivates cortisone in cortisol in adipose tissues and liver and has associated to obesity and type 2 diabetes mellitus. Hence, the hypothesis is that in patients suffering from FPL2 with the R482 codon mutation of the LMNA gene, there is an increase in the activity of HSD11B1 which could participate to the metabolic phenotype of the disease.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

25

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Lille, France, 59037
        • Hop Claude Huriez

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

11 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

Patients suffering from FPL2 with the R482 codon mutation of the LMNA gene treated in the department of endocrinology at Lille University Hospital.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients with FPL2 genetically confirmed
patients suffering with FPL2 with the R482 codon mutation of the LMNA gene.
Other: Biopsy
Biopsy of subcutaneous adipose tissue

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
THE/(THF+αTHF) ratio measured in the 24h urine collections in patients
Time Frame: Baseline
Baseline

Secondary Outcome Measures

Outcome Measure
Time Frame
11BHSD1 expression in subcutaneous adipose tissue in patients
Time Frame: Baseline
Baseline
Cortisol metabolites excretion in patients
Time Frame: Baseline
Baseline
Correlation of 11BHSD1 activity and metabolic parameters in patients
Time Frame: Baseline
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Lille

Investigators

  • Principal Investigator: Stéphanie ESPIARD, MD, University Hospital, Lille

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 19, 2022

Primary Completion (Actual)

November 9, 2023

Study Completion (Actual)

November 9, 2023

Study Registration Dates

First Submitted

April 13, 2021

First Submitted That Met QC Criteria

April 13, 2021

First Posted (Actual)

April 14, 2021

Study Record Updates

Last Update Posted (Actual)

December 26, 2025

Last Update Submitted That Met QC Criteria

December 18, 2025

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2020_50
  • 2020-A03167-32 (Other Identifier: ID-RCB number,ANSM)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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