An interventional study of Genetic analysis and Biological analysis in Polycystic Ovary Syndrome, Familial Partial Lipodystrophy and LMNA (LaMin Nuclear A) Related Disorders, sponsored by Assistance Publique - Hôpitaux de Paris. Recruiting at 1 site in France. Open to female participants aged 18 Years to 45 Years. Per ClinicalTrials.gov, last updated 2026-08-10.
Sponsored by Assistance Publique - Hôpitaux de Paris · Not applicable, Interventional, and Diagnostic
Diagnostic case-control study (1 case for 2 controls). Inclusion of patients with severe insulin resistance syndrome of genetic origin, then inclusion of controls: patients examined for PCOS in day hospital with matching age (+/- 5 years) and Body mass index (+/- 5kg/m2).
Hyperandrogenism and/or menstrual cycle disorders are the leading cause of female infertility and are associated with cardiovascular comorbidities. The most common cause of hyperandrogenism is polycystic ovary syndrome (PCOS), which affects 10% of women. However, PCOS can also be the presenting symptom of rare, multisystemic conditions such as extreme insulin resistance (IR) syndromes, with or without lipodystrophy. Among these extreme IR syndromes, familial partial lipodystrophy type 2 (FPLD2), of genetic origin, requires early screening and management to prevent diabetes, hypertriglyceridemia, and cardiovascular complications, which occur in 50%, 68%, and 45% of women, respectively, as well as serious comorbidities in certain genetic forms (risk of sudden death). Associated metabolic complications are often difficult to control and necessitate the use of orphan drugs when standard treatments are insufficiently effective. Furthermore, family genetic counseling should be provided. Currently, there is a significant delay in the diagnosis of these rare and still poorly understood diseases. This diagnostic delay is associated with a delay in the screening and treatment of complications related to these diseases, with a risk of early cardiovascular morbidity and mortality that is difficult to assess at present due to the rarity of the disease.
The main objective is to identify the differences, in the insulin resistant profile, associated with the diagnosis of PCOS coupled with a severe insulin resistance syndrome, when compared to a diagnosis of "classic" PCOS.
The secondary objective is to describe the metabolic and hormonal phenotype of patients with familial partial lipodystrophy type 2 (FPLD2) and to compare it with that of women presenting a "classic" PCOS.
25 cases and 50 age- and BMI-matched controls will be included in the study. Up to 6 additional control patients could be included if a control patient becomes a case based on the results of the genetic analysis. Otherwise, these patients will not be included.
A maximum of 81 patients in total will be included.
956 studies on the registry are indexed under Polycystic Ovary Syndrome; 176 are open to participants now.
This study's planned enrollment of 81 is above the median of 70 across 697 interventional studies indexed under Polycystic Ovary Syndrome.
Browse Polycystic Ovary Syndrome studies →Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,592 studies on the registry; 1,033 are open to participants now.
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Case (n=25):
- Patient with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene.
Control (n=50), :
- patient consulting for polycystic ovary syndrome (PCOS according to the Rotterdam criteria) in day hospital matched on age +/-5 years and +/-5 kg/m2.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Weight in kilograms divided by height in metres squared. Example: 70 kg and 1.75 m gives 70 ÷ (1.75 × 1.75) ≈ 22.9.
What counts as overweight or obesity differs between countries (some use lower cut-offs), so go by the range the study states.
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
BMI (body mass index)
Weight in kilograms divided by height in metres squared. Example: 70 kg and 1.75 m gives 70 ÷ (1.75 × 1.75) ≈ 22.9.
What counts as overweight or obesity differs between countries (some use lower cut-offs), so go by the range the study states.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
GFR and eGFR (kidney filtering)
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patient with a Lipodystrophy Familial Partial due to a known pathogenic variant of the LMNA gene
Genetic: Genetic analysis · Other: Biological analysis · Other: imaging test
Patient consulting for polycystic ovary syndrome in day hospital matched on age +/-5 years and BMI+/-5 kg/m2
Other: Standard intervention
Analyses of the insulin resistance and lipodystrophy gene panel revealed pathogenic or highly susceptible variants in control PCOS patients
Measurement of adipokines
DEXA (Dual-Energy X-ray Absorptiometry)
Standard intervention
Measure of Insulinemia rate during an orally induced hyperglycemia
Measure of Insulinemia rate in order to compare the association between the profile of insulin secretion (Insulinemia , C-peptide and glycaemia) during an orally induced hyperglycemia and the known diagnosis of lipodystrophy linked to a mutation of the LMNA (FPLD2) gene.
Time frame: Day 0
Measure of C-peptide rate during an orally induced hyperglycemia
Measure of C-peptide rate in order to compare the association between the profile of insulin secretion (Insulinemia, C-peptide and glycaemia) during an orally induced hyperglycemia and the known diagnosis of lipodystrophy linked to a mutation of the LMNA (FPLD2) gene.
Time frame: Day 0
Measure of glycaemia rate during an orally induced hyperglycemia
Measure of glycaemia rate in order to compare the association between the profile of insulin secretion (Insulinemia, C-peptide and glycaemia) during an orally induced hyperglycemia and the known diagnosis of lipodystrophy linked to a mutation of the LMNA (FPLD2) gene.
Time frame: Day 0
Research of mutation of the LMNA (FPLD2) gene
Research of mutation of the LMNA (FPLD2) gene in order to compare the association between the profile of insulin secretion (Insulinemia, C-peptide and glycaemia) during an orally induced hyperglycemia and the known diagnosis of lipodystrophy linked to a mutation of the LMNA (FPLD2) gene.
Time frame: Day 0
Measure of BMI
Measure of BMI in order to determine fatty tissue distribution in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Measure of waist circumference
Measure of waist circumference in order to determine fatty tissue distribution in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Measure of hip circumference
Measure of hip circumference in order to determine fatty tissue distribution in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Measure of skin fold thickness
Measure of skin fold thickness in order to determine fatty tissue distribution in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Measure of the percentage of total body fat at DEXA
Measure of the percentage of total body fat at DEXA in order to determine fatty tissue distribution in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0 and up to 1 month
Measure of the android to gynoid ratio at DEXA
Measure of the android to gynoid ratio at DEXA in order to determine fatty tissue distribution in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0 and up to 1 month
Determine biological differences in concentration of fasting blood glucose
Determine biological differences in concentration of fasting blood glucose in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine biological differences in concentration of fasting blood insulin
Determine biological differences in concentration of fasting blood insulin in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine biological differences in concentration of ASAT/ALAT (Aspartate Aminotransferases) /ALAT(Alanine Aminotransferases)
Determine biological differences in concentration of ASAT/ALAT in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine biological differences in concentration of Gamma GT (Gamma-glutamyl transpeptidase)
Determine biological differences in concentration of Gamma GT in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine biological differences in concentration of leptinemia
Determine biological differences in concentration of leptinemia in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine biological differences in concentration of adiponectinemia
Determine biological differences of plasma total adiponectin hydroxyprogesterone in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine biological differences in concentration of triglyceridemia
Determine biological differences of concentration triglyceridemia in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine biological differences in concentration of HDL cholesterolemia
Determine biological differences of concentration HDL cholesterolemia in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of testosterone
Determine differences in hormonal concentrations of testosterone in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of FSH (Follicle-Stimulating Hormone)
Determine differences in hormonal concentrations of FSH in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of LH (Luteinizing Hormone)
Determine differences in hormonal concentrations of LH in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of AMH (Anti-Müllerian Hormone)
Determine differences in hormonal concentrations of AMH in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of cortisol
Determine differences in hormonal concentrations of androgens and steroids (cortisol measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of cortisone
Determine differences in hormonal concentrations of cortisone measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of pregnenolone
Determine differences in hormonal concentrations of pregnenolone, measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of 17-alpha hydroxypregnenolone
Determine differences in hormonal concentrations of 17-hydroxyprogesterone measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of 16-hydroxyprogesterone
Determine differences in hormonal concentrations of 16-hydroxyprogesterone measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of delta 4 androstenedione
Determine differences in hormonal concentrations of delta 4 androstenedione measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of 11 betahydroxyandrostenedione
Determine differences in hormonal concentrations of 11 betahydroxyandrostenedione measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of DHEA (Dehydroepiandrosterone)
Determine differences in hormonal concentrations of DHEA measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of 11-deoxycortisol
Determine differences in hormonal concentrations of 11-deoxycortisol measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of 21-deoxycortisol
Determine differences in hormonal concentrations of 21-deoxycortisol measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of testosterone
Determine differences in hormonal concentrations of testosterone measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of dihydrotestosterone
Determine differences in hormonal concentrations of dihydrotestosterone measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of corticosterone
Determine differences in hormonal concentrations of corticosterone, measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of 21-deoxycorticosterone
Determine differences in hormonal concentrations of 21-deoxycorticosterone measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine differences in hormonal concentrations of aldosterone
Determine differences in hormonal concentrations of aldosterone measured by mass spectometry in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Determine the follicular count on pelvic ultrasound or pelvic MRI
Determine the follicular count on pelvic ultrasound in patients with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene compared to the control group
Time frame: Day 0
Plan to share: No
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Started Jul 2026 (actual). Primary completion is estimated for Jan 2028, 18 months after the start.
Of 202 non-industry interventional studies with no phase under Polycystic Ovary Syndrome, half reached primary completion within 18 months of starting (the median), counting those still running; a quarter within 7 and three quarters within 39. This study's planned 18 months is close to that.
Counting every sponsor, half of 217 studies reached it within 18 months; a quarter within 7 and three quarters within 39.
How these figures are worked out, and which studies are left out of them.
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