Identifying insulin-resistant PCOS with LMNA-related lipodystrophy in young women

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This diagnostic case-control study will compare 25 women with a lipodystrophic syndrome due to LMNA gene variants to 50 PCOS patients who are matched by age and BMI. The study uses genetic analysis, biological testing, and imaging to characterize insulin resistance profiles and related factors. The goal is to understand how the insulin-resistant, lipodystrophic condition presents differently from classic PCOS in women of reproductive age. The design aims to help improve differential diagnosis and future management of rare insulin resistance syndromes presenting with hyperandrogenism.

Why it matters

Who can join: the full rules

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

Where it's running

• Service Endocrinologie, Hôpital St Antoine
  Paris, France Recruiting

Study contacts

• Principal investigator: Sophie LAMOTHE — Aphp
• Study coordinator: Sophie LAMOTHE, Doctor
• Email: sophie.lamothe@aphp.fr
• Phone: 0149282406

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.