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

NCT07412028 | Not Yet Recruiting

• 2 other identifiers: APHP241600IDRCB 2025-A02210-49
• Study Type: interventional
• Target: 81
• Locations: 1 country
• Sites: 1

Brief 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).

Conditions

Polycystic Ovary Syndrome; LMNA (LaMin Nuclear A) Related Disorders; Familial Partial Lipodystrophy

Keywords

Polycystic Ovary Syndrome; Familial Partial Lipodystrophy; LMNA related disorders

Outcome Measures

Primary Outcomes (4)

• 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.

  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.

  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.

  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.

  Day 0

Secondary Outcomes (34)

• Measure of BMI

  Day 0

• Measure of waist circumference

  Day 0

• Measure of hip circumference

  Day 0

• Measure of skin fold thickness

  Day 0

• Measure of the percentage of total body fat at DEXA

  Day 0 and up to 1 month

Study Arms (2)

Case

OTHER

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

Control

OTHER

Patient consulting for polycystic ovary syndrome in day hospital matched on age +/-5 years and BMI+/-5 kg/m2

Other: Standard intervention

Interventions

Genetic analysis GENETIC

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

Case

Biological analysis OTHER

Measurement of adipokines

Case

imaging test OTHER

DEXA (Dual-Energy X-ray Absorptiometry)

Case

Standard intervention OTHER

Standard intervention

Control

Eligibility Criteria

• Age: 18 Years - 45 Years
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• \- 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Service Endocrinologie, Hôpital St Antoine

Paris, 75012, France

Location

MeSH Terms

Conditions

Polycystic Ovary Syndrome; Lipodystrophy, Familial Partial

Interventions

Genetic Testing; Biological Oxygen Demand Analysis

Condition Hierarchy (Ancestors)

Ovarian Cysts; Cysts; Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Gonadal Disorders; Endocrine System Diseases; Laminopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipodystrophy; Skin Diseases, Metabolic; Skin Diseases; Skin and Connective Tissue Diseases; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services; Environmental Monitoring; Environmental Exposure; Environmental Pollution; Public Health; Environment and Public Health; Public Health Practice

Study Officials

• Sophie LAMOTHE

  APHP

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sophie LAMOTHE, Doctor

CONTACT

0149282406; sophie.lamothe@aphp.fr

Camille VATIER, Doctor

CONTACT

0149282406; camille.vatier@aphp.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 27, 2026
• First Posted: February 17, 2026
• Study Start: February 1, 2026
• Primary Completion (Estimated): September 1, 2027
• Study Completion (Estimated): September 1, 2027
• Last Updated: February 17, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)