- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04845165
Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2 (LIPOCORT)
June 20, 2022 updated by: University Hospital, Lille
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.
Study Overview
Status
Recruiting
Conditions
Intervention / Treatment
Study Type
Observational
Enrollment (Anticipated)
90
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
-
-
Lille, France, 59037
- Recruiting
- HOP Claude Huriez
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
13 years and older (Child, Adult, Older Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
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.
Description
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.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Patients with FPL2 genetically confirmed
patients suffering with FPL2 with the R482 codon mutation of the LMNA gene.
|
Biopsy of subcutaneous adipose tissue
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
THE/(THF+αTHF) ratio measured in the 24h urine collections in patients
Time Frame: Baseline
|
Baseline
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
11BHSD1 expression in subcutaneous adipose tissue in patients
Time Frame: Baseline
|
Baseline
|
Cortisol metabolites excretion in patients
Time Frame: Baseline
|
Baseline
|
Correlation of 11BHSD1 activity and metabolic parameters in patients
Time Frame: Baseline
|
Baseline
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
April 19, 2022
Primary Completion (Anticipated)
April 1, 2024
Study Completion (Anticipated)
April 1, 2024
Study Registration Dates
First Submitted
April 13, 2021
First Submitted That Met QC Criteria
April 13, 2021
First Posted (Actual)
April 14, 2021
Study Record Updates
Last Update Posted (Actual)
June 27, 2022
Last Update Submitted That Met QC Criteria
June 20, 2022
Last Verified
March 1, 2022
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 2020_50
- 2020-A03167-32 (Other Identifier: ID-RCB number,ANSM)
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Familial Partial Lipodystrophy Type 2
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Akcea TherapeuticsIonis Pharmaceuticals, Inc.TerminatedFamilial Partial LipodystrophyUnited States, Netherlands, Belgium, Brazil, Canada, Germany, Russian Federation
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Mayo ClinicCompleted
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