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Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2

NCT04845165 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 25

Last updated 2025-12-26

No results posted yet for this study

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

Interventions

OTHER

Biopsy

Biopsy of subcutaneous adipose tissue

Sponsors & Collaborators

  • University Hospital, Lille

    lead OTHER

Principal Investigators

  • Stéphanie ESPIARD, MD · University Hospital, Lille

Eligibility

Min Age
15 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-04-19
Primary Completion
2023-11-09
Completion
2023-11-09

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04845165 on ClinicalTrials.gov