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Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2

NCT ID: NCT04845165

Last Updated: 2025-12-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

25 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-04-19

Study Completion Date

2023-11-09

Brief Summary

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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.

Detailed Description

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Conditions

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Familial Partial Lipodystrophy Type 2

Keywords

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with FPL2 genetically confirmed

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

Biopsy

Intervention Type OTHER

Biopsy of subcutaneous adipose tissue

Interventions

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Biopsy

Biopsy of subcutaneous adipose tissue

Intervention Type OTHER

Eligibility Criteria

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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.
Minimum Eligible Age

15 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Lille

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Stéphanie ESPIARD, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Lille

Locations

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Hop Claude Huriez

Lille, , France

Site Status

Countries

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France

Other Identifiers

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2020_50

Identifier Type: -

Identifier Source: org_study_id

2020-A03167-32

Identifier Type: OTHER

Identifier Source: secondary_id