Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2


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 Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: June 2023


  • Other: Biopsy
    • Biopsy of subcutaneous adipose tissue

Arms, Groups and Cohorts

  • Patients with FPL2 genetically confirmed
    • patients suffering with FPL2 with the R482 codon mutation of the LMNA gene.

Clinical Trial Outcome Measures

Primary Measures

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

Secondary Measures

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

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: 15 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University Hospital, Lille
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Stéphanie ESPIARD, MD, Principal Investigator, University Hospital, Lille
  • Overall Contact(s)
    • Stéphanie ESPIARD, MD, 0320445962,

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