Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2

Familial Partial Lipodystrophy Type 2 Clinical Trial

— LIPOCORT  

Official title:

Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04845165
• Other study ID #: 2020_50
• Secondary ID: 2020-A03167-32
• Status: Recruiting
• Start date: April 19, 2022
• Est. completion date: April 2024

Study information

• Verified date: March 2022
• Source: University Hospital, Lille
• Contact: Stéphanie ESPIARD, MD
• Phone: 0320445962
• Email: stephanie.espiard[@]chru-lille.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 90
• Est. completion date: April 2024
• Est. primary completion date: April 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 15 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Familial Partial Lipodystrophy Type 2
• Lipodystrophy
• Lipodystrophy, Familial Partial

Intervention

Other:
• Biopsy
Biopsy of subcutaneous adipose tissue

Locations

Country	Name	City	State
France	Hop Claude Huriez	Lille

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Lille

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	THE/(THF+aTHF) ratio measured in the 24h urine collections in patients		Baseline
Secondary	11BHSD1 expression in subcutaneous adipose tissue in patients		Baseline
Secondary	Cortisol metabolites excretion in patients		Baseline
Secondary	Correlation of 11BHSD1 activity and metabolic parameters in patients		Baseline