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Completed

NCT Number: NCT04845165

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.

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Key information

Conditions

Familial Partial Lipodystrophy Type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyslipidemias Genetic Diseases, Inborn Glucose Metabolism Disorders Hyperinsulinism Hyperlipidemias Hypertriglyceridemia Insulin Resistance Laminopathies Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipodystrophy Lipodystrophy, Familial Partial Metabolic Diseases Nutritional and Metabolic Diseases Skin Diseases Skin Diseases, Metabolic Skin and Connective Tissue Diseases

Age range

15 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hop Claude Huriez

Lille, 59037, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Biopsy

Other

Biopsy of subcutaneous adipose tissue

Primary outcomes

  1. THE/(THF+αTHF) ratio measured in the 24h urine collections in patients

    Time frame: Baseline

Secondary outcomes

  1. 11BHSD1 expression in subcutaneous adipose tissue in patients

    Time frame: Baseline

  2. Cortisol metabolites excretion in patients

    Time frame: Baseline

  3. Correlation of 11BHSD1 activity and metabolic parameters in patients

    Time frame: Baseline

Sponsors and collaborators

Lead sponsor

University Hospital, Lille

Other

Registry information

Acronym: LIPOCORT

Important dates

Study start
2022
Primary completion
2023
Study completion
2023
First posted
Apr 14, 2021
Registry last updated
Dec 26, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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