Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2

NCT04845165 | Completed

• 2 other identifiers: 2020_502020-A03167-32
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

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.

Conditions

Familial Partial Lipodystrophy Type 2

Keywords

Cortisol; Lipodystrophy 3; Hydroxysteroid 11-β dehydrogenase 1 (HSD11B1); Insulin Resistance; Hypertriglyceridemia

Outcome Measures

Primary Outcomes (1)

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

  Baseline

Secondary Outcomes (3)

• 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

Study Arms (1)

Patients with FPL2 genetically confirmed

patients suffering with FPL2 with the R482 codon mutation of the LMNA gene.

Other: Biopsy

Interventions

Biopsy OTHER

Biopsy of subcutaneous adipose tissue

Patients with FPL2 genetically confirmed

Eligibility Criteria

• Age: 15 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Familia partial lipodystrophy type 2 (FPL2) with the R482 codon mutation of the LMNA gene
• Social insured
• Ability to give consent

You may not qualify if:

• 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.

Sponsors & Collaborators

• University Hospital, Lille: lead

Study Sites (1)

Hop Claude Huriez

Lille, 59037, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

A 24 hours urine collection; Biopsy of subcutaneous adipose tissue

MeSH Terms

Conditions

Lipodystrophy, Familial Partial; Insulin Resistance; Hypertriglyceridemia

Interventions

Biopsy

Condition Hierarchy (Ancestors)

Laminopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipodystrophy; Skin Diseases, Metabolic; Skin Diseases; Skin and Connective Tissue Diseases; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Hyperinsulinism; Glucose Metabolism Disorders; Hyperlipidemias; Dyslipidemias

Intervention Hierarchy (Ancestors)

Cytodiagnosis; Cytological Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Specimen Handling; Diagnostic Techniques, Surgical; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Stéphanie ESPIARD, MD

  University Hospital, Lille

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 13, 2021
• First Posted: April 14, 2021
• Study Start: April 19, 2022
• Primary Completion: November 9, 2023
• Study Completion: November 9, 2023
• Last Updated: December 26, 2025

Record last verified: 2025-12

Locations

FR (1)