Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2

• Conditions: Familial Partial Lipodystrophy Type 2
• Interventions: Other: Biopsy

• Registration Number: NCT04845165
• Lead Sponsor: University Hospital, Lille

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2021-04-13
• Study First Submitted QC: 2021-04-13
• Study First Posted: 2021-04-14
• Status Verified: 2022-03
• Study Start: 2022-04-19
• Last Update Submitted: 2022-06-20
• Last Update Posted: 2022-06-27
• Primary Completion: 2024-04
• Study Completion: 2024-04

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 90

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients with FPL2 genetically confirmed	Biopsy	patients suffering with FPL2 with the R482 codon mutation of the LMNA gene.

Primary Outcome Measures

Name	Time	Method
THE/(THF+αTHF) ratio measured in the 24h urine collections in patients	Baseline

Secondary Outcome Measures

Name	Time	Method
Correlation of 11BHSD1 activity and metabolic parameters in patients	Baseline
11BHSD1 expression in subcutaneous adipose tissue in patients	Baseline
Cortisol metabolites excretion in patients	Baseline

Trial Locations

Locations (1)

Hop Claude Huriez; 🇫🇷 Lille, France