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Researchers investigate Cortisol's role in rare fat disorder

NCT ID NCT04845165

Knowledge-focused Sponsor: University Hospital, Lille Source: ClinicalTrials.gov ↗

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looked at how the body processes cortisol in people with a rare genetic condition called familial partial lipodystrophy type 2 (FPL2). The goal was to see if increased activity of a certain enzyme (11β-HSD1) contributes to the severe metabolic problems seen in this disease. Researchers measured cortisol-related substances in urine and checked enzyme activity in fat tissue from 25 participants. The findings may help understand the disease better but do not test any treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

25 people

The number who actually took part.

Started

Apr 2022

Finished

Nov 2023

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients suffering from FPL2 with the R482 codon mutation of the LMNA gene treated in the department of endocrinology at Lille University Hospital.

Ages

15 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

familial partial lipodystrophy familial partial lipodystrophy, Dunnigan type hypertriglyceridemia Insulin Resistance

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Familial partial lipodystrophy type 2

Contacts and locations

Locations

  • Hop Claude Huriez

    Lille, 59037, France

More trials for these conditions

Other studies related to the condition(s) this trial covers.