Familial Partial Lipodystrophy Type 2LIPOCORTNCT04845165
Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2
An observational study of Familial Partial Lipodystrophy Type 2, run by University Hospital, Lille at 1 site in France.
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… Read more about this study
- Who is it for?
- Ages 15 years and older
- Conditions the study is for
- Familial Partial Lipodystrophy Type 2
- What is being tested?
- Biopsy
- Type of treatment
- Injection or infusion
- How many people
- 25 participants
- Where
- 1 siteFrance
- Study dates
- 19 Apr 2022to 9 Nov 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 15 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Familia partial lipodystrophy type 2 (FPL2) with the R482 codon mutation of the LMNA gene
- Social insured
- Ability to give consent
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
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
- Being tested
- Biopsy
- Keywords
- Cortisol, Lipodystrophy 3, Hydroxysteroid 11-β dehydrogenase 1 (HSD11B1), Insulin Resistance, Hypertriglyceridemia
- Medical subject headings
- Lipodystrophy, Familial Partial, Insulin Resistance, Hypertriglyceridemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
BiopsyOther
Biopsy of subcutaneous adipose tissue
| Study group | Role | What they receive |
|---|---|---|
| Patients with FPL2 genetically confirmed | patients suffering with FPL2 with the R482 codon mutation of the LMNA gene. Receives: Other: Biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
THE/(THF+αTHF) ratio measured in the 24h urine collections in patients
Measured: Baseline
Secondary outcomes (3)
11BHSD1 expression in subcutaneous adipose tissue in patients
Measured: Baseline
Cortisol metabolites excretion in patients
Measured: Baseline
Correlation of 11BHSD1 activity and metabolic parameters in patients
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Apr 2021
- Study start19 Apr 2022
- Primary completion9 Nov 2023
- Study completion9 Nov 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial Partial Lipodystrophy Type 2Studies of the same condition, open and under way.
- More trials run by University Hospital, LilleThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Stéphanie ESPIARD, MD, Principal investigator, University Hospital, Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04845165
- Sponsor's protocol ID
- 2020_50
- Other IDs
- 2020-A03167-32
- Acronym
- LIPOCORT
- Status last verified
- Dec 2025
- First submitted
- 13 Apr 2021
- Last updated
- 26 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2
- ClinicalTrials.gov ID
- NCT04845165
- Acronym / sponsor ID
- LIPOCORT / 2020_50
- Conditions
- Familial Partial Lipodystrophy Type 2
- Keywords
- Cortisol, Lipodystrophy 3, Hydroxysteroid 11-β dehydrogenase 1 (HSD11B1), Insulin Resistance, Hypertriglyceridemia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 25 participants (actual)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Study start
- 19 Apr 2022 (actual)
- Primary completion
- 9 Nov 2023 (actual)
- Study completion
- 9 Nov 2023 (actual)
- First posted
- 14 Apr 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with FPL2 genetically confirmed | – | Other: Biopsypatients suffering with FPL2 with the R482 codon mutation of the LMNA gene. |
Who may qualify
- Ages
- 15 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- Familia partial lipodystrophy type 2 (FPL2) with the R482 codon mutation of the LMNA gene
- Social insured
- Ability to give consent
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| BiopsyBiopsy of subcutaneous adipose tissue | Other | Patients with FPL2 genetically confirmed |
Primary outcome
THE/(THF+αTHF) ratio measured in the 24h urine collections in patients
Time frame: Baseline
3 secondary outcomes
11BHSD1 expression in subcutaneous adipose tissue in patients
Time frame: Baseline
Cortisol metabolites excretion in patients
Time frame: Baseline
Correlation of 11BHSD1 activity and metabolic parameters in patients
Time frame: Baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Dec 2025.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Stéphanie ESPIARD, MD principal investigator
University Hospital, Lille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Partial Lipodystrophy Type 2, run by University Hospital, Lille at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
THE/(THF+αTHF) ratio measured in the 24h urine collections in patients (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Dec 2025.