LIPOCORT: Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2

Sponsor

University Hospital, Lille (Other)

Overall Status

Recruiting

CT.gov ID

NCT04845165

Collaborator

(none)

Enrollment

Location

23.4

Anticipated Duration (Months)

3.8

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Familial Partial Lipodystrophy Type 2	Other: Biopsy

Study Design

Study Type:

Observational

Anticipated Enrollment :

90 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2

Actual Study Start Date :

Apr 19, 2022

Anticipated Primary Completion Date :

Apr 1, 2024

Anticipated Study Completion Date :

Apr 1, 2024

Arms and Interventions

Arm	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

Arm

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

Outcome Measures

Primary Outcome Measures

THE/(THF+αTHF) ratio measured in the 24h urine collections in patients [Baseline]

Secondary Outcome Measures

11BHSD1 expression in subcutaneous adipose tissue in patients [Baseline]
Cortisol metabolites excretion in patients [Baseline]
Correlation of 11BHSD1 activity and metabolic parameters in patients [Baseline]

Eligibility Criteria

Criteria

Ages Eligible for Study:

15 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.