Polycystic Ovary SyndromeANDROLIPONCT07412028
Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS)
A study testing Genetic analysis, Biological analysis and imaging test in people with Polycystic Ovary Syndrome and Familial Partial Lipodystrophy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
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). Read more about this study
- Who is it for?
- Ages 18 to 45 years, women only
- Conditions the study is for
- Polycystic Ovary Syndrome, Familial Partial Lipodystrophy, LMNA (LaMin Nuclear A) Related Disorders
- What is being tested?
- Genetic analysis, Biological analysis and imaging test
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 81 participants
- Where
- 1 siteFrance
- Study dates
- 21 Jul 2026to Jan 2028
- Phase
- Interventional
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 18 to 45 years
- Women only
- No healthy volunteers
- Adult
Who may be able to join
- Women aged ≥ 18 years and < 45 years ;
- Discontinuation of estrogen-progestin therapyfor at least 3 months ;
- Signed informed consent ;
- Social security affiliation.
- 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 BMI+/-5 kg/m2.
Who cannot join
- - Severe renal insufficiency (GFR < 30 ml/min) ;
- Hepato-cellular insufficiency (TP < 50%) ;
- Taking corticosteroids or antiretrovirals ;
- Menopausal women ;
- Taking estrogen-progestin therapy;
- Diabetic patients on insulin : type 1 diabetes or pancreatectomised patients
Show all 9Show fewer
- Other known causes of hyperandrogenism (21-hydroxylase block, Cushing's syndrome, ovarian tumor).
- Pregnant woman
- Breastfeeding woman
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Service Endocrinologie, Hôpital St Antoine
Paris, 75012
Sophie LAMOTHE, Doctor, 0149282406 ext. +33, sophie.lamothe@aphp.fr
Camille VATIER, Doctor, 0149282406 ext. +33, camille.vatier@aphp.fr
About this study
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).
Read the detailed description
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.
- Conditions
- Polycystic Ovary Syndrome, Familial Partial Lipodystrophy, LMNA (LaMin Nuclear A) Related Disorders
- Being tested
- Genetic analysis, Biological analysis, imaging test, Standard intervention
- Keywords
- Polycystic Ovary Syndrome, Familial Partial Lipodystrophy, LMNA related disorders
- Medical subject headings
- Polycystic Ovary Syndrome, Lipodystrophy, Familial Partial
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic analysisGenetic
Analyses of the insulin resistance and lipodystrophy gene panel revealed pathogenic or highly susceptible variants in control PCOS patients
Biological analysisOther
Measurement of adipokines
imaging testOther
DEXA (Dual-Energy X-ray Absorptiometry)
Standard interventionOther
Standard intervention
| Study group | Role | What they receive |
|---|---|---|
| Case | Other | Patient with a Lipodystrophy Familial Partial due to a known pathogenic variant of the LMNA gene Receives: Genetic: Genetic analysis; Other: Biological analysis; Other: imaging test |
| Control | Other | Patient consulting for polycystic ovary syndrome in day hospital matched on age +/-5 years and BMI+/-5 kg/m2 Receives: Other: Standard intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Day 0
Secondary outcomes (34)
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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Feb 2026
- Study start21 Jul 2026
- Primary completionJan 2028 (estimated)
- Study completionJan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Polycystic Ovary SyndromeStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 81 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Sophie LAMOTHE, Principal investigator, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07412028
- Sponsor's protocol ID
- APHP241600
- Other IDs
- IDRCB 2025-A02210-49
- Acronym
- ANDROLIPO
- Status last verified
- Aug 2026
- First submitted
- 27 Jan 2026
- Last updated
- 10 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No