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NCT Number: NCT07412028

Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS)

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).

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Key information

Conditions

Polycystic Ovary Syndrome Adnexal Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cysts Endocrine System Diseases Familial Partial Lipodystrophy Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genital Diseases Genital Diseases, Female Gonadal Disorders LMNA (LaMin Nuclear A) Related Disorders Laminopathies Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipodystrophy Lipodystrophy, Familial Partial Metabolic Diseases Neoplasms Nutritional and Metabolic Diseases Ovarian Cysts Ovarian Diseases Skin Diseases Skin Diseases, Metabolic Skin and Connective Tissue Diseases Urogenital Diseases

Age range

18 year–45 year

Sex eligibility

Female

Study type

Interventional

Phase

Not applicable

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • - 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
  • Other known causes of hyperandrogenism (21-hydroxylase block, Cushing's syndrome, ovarian tumor).
  • Pregnant woman
  • Breastfeeding woman

Treatment and study plan

Genetic analysis

Genetic

Analyses of the insulin resistance and lipodystrophy gene panel revealed pathogenic or highly susceptible variants in control PCOS patients

Biological analysis

Other

Measurement of adipokines

imaging test

Other

DEXA (Dual-Energy X-ray Absorptiometry)

Standard intervention

Other

Standard intervention

Primary outcomes

  1. Measure of Insulinemia rate during an orally induced hyperglycemia

    Time frame: Day 0

    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.

  2. Measure of C-peptide rate during an orally induced hyperglycemia

    Time frame: Day 0

    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.

  3. Measure of glycaemia rate during an orally induced hyperglycemia

    Time frame: Day 0

    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.

  4. Research of mutation of the LMNA (FPLD2) gene

    Time frame: Day 0

    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.

Secondary outcomes

  1. Measure of BMI

    Time frame: Day 0

    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

  2. Measure of waist circumference

    Time frame: Day 0

    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

  3. Measure of hip circumference

    Time frame: Day 0

    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

  4. Measure of skin fold thickness

    Time frame: Day 0

    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

  5. Measure of the percentage of total body fat at DEXA

    Time frame: Day 0 and up to 1 month

    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

  6. Measure of the android to gynoid ratio at DEXA

    Time frame: Day 0 and up to 1 month

    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

  7. Determine biological differences in concentration of fasting blood glucose

    Time frame: Day 0

    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

  8. Determine biological differences in concentration of fasting blood insulin

    Time frame: Day 0

    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

  9. Determine biological differences in concentration of ASAT/ALAT (Aspartate Aminotransferases) /ALAT(Alanine Aminotransferases)

    Time frame: Day 0

    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

  10. Determine biological differences in concentration of Gamma GT (Gamma-glutamyl transpeptidase)

    Time frame: Day 0

    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

  11. Determine biological differences in concentration of leptinemia

    Time frame: Day 0

    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

  12. Determine biological differences in concentration of adiponectinemia

    Time frame: Day 0

    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

  13. Determine biological differences in concentration of triglyceridemia

    Time frame: Day 0

    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

  14. Determine biological differences in concentration of HDL cholesterolemia

    Time frame: Day 0

    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

  15. Determine differences in hormonal concentrations of testosterone

    Time frame: Day 0

    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

  16. Determine differences in hormonal concentrations of FSH (Follicle-Stimulating Hormone)

    Time frame: Day 0

    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

  17. Determine differences in hormonal concentrations of LH (Luteinizing Hormone)

    Time frame: Day 0

    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

  18. Determine differences in hormonal concentrations of AMH (Anti-Müllerian Hormone)

    Time frame: Day 0

    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

  19. Determine differences in hormonal concentrations of cortisol

    Time frame: Day 0

    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

  20. Determine differences in hormonal concentrations of cortisone

    Time frame: Day 0

    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

  21. Determine differences in hormonal concentrations of pregnenolone

    Time frame: Day 0

    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

  22. Determine differences in hormonal concentrations of 17-alpha hydroxypregnenolone

    Time frame: Day 0

    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

  23. Determine differences in hormonal concentrations of 16-hydroxyprogesterone

    Time frame: Day 0

    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

  24. Determine differences in hormonal concentrations of delta 4 androstenedione

    Time frame: Day 0

    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

  25. Determine differences in hormonal concentrations of 11 betahydroxyandrostenedione

    Time frame: Day 0

    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

  26. Determine differences in hormonal concentrations of DHEA (Dehydroepiandrosterone)

    Time frame: Day 0

    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

  27. Determine differences in hormonal concentrations of 11-deoxycortisol

    Time frame: Day 0

    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

  28. Determine differences in hormonal concentrations of 21-deoxycortisol

    Time frame: Day 0

    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

  29. Determine differences in hormonal concentrations of testosterone

    Time frame: Day 0

    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

  30. Determine differences in hormonal concentrations of dihydrotestosterone

    Time frame: Day 0

    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

  31. Determine differences in hormonal concentrations of corticosterone

    Time frame: Day 0

    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

  32. Determine differences in hormonal concentrations of 21-deoxycorticosterone

    Time frame: Day 0

    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

  33. Determine differences in hormonal concentrations of aldosterone

    Time frame: Day 0

    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

  34. Determine the follicular count on pelvic ultrasound or pelvic MRI

    Time frame: Day 0

    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

Study contacts

Contact information is provided by the study sponsor or research team.

Camille VATIER, Doctor

CONTACT

[email protected]

0149282406 ext. +33

Sophie LAMOTHE, Doctor

CONTACT

[email protected]

0149282406 ext. +33

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Acronym: ANDROLIPO

Important dates

Study start
2026
Primary completion
2027
Study completion
2027
First posted
Feb 17, 2026
Registry last updated
Feb 17, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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