Looking for genetic insulin resistance disorders in women diagnosed with polycystic ovary syndrome
Checks women with polycystic ovary syndrome for rare inherited severe insulin resistance.
Key facts
- Who runs it
- Assistance Publique - Hôpitaux de Paris
- Where
- Paris, FranceSee the site
- Trial code
- Registry title
- Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS)
- Status
- Recruiting
- People taking part
- 81 people, planned
- Started
- 21 Jul 2026
- Expected to end
- Jan 2028
- Type of study
- Interventional, 2 groups
- Treatments tested
- Genetic analysis
- Biological analysis
- imaging test
- Standard intervention
- Record updated
- 10 August 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for women aged 18 to 45 with a fat-distribution disorder linked to an LMNA gene change (cases) and women with polycystic ovary syndrome of similar age and body mass index (controls).
- Age
- 18 years to under 45 years.
- Sex
- Women only.
- Disease stage
- Cases: a lipodystrophic syndrome (abnormal body fat) caused by a known disease-causing LMNA gene change. Controls: polycystic ovary syndrome by the Rotterdam criteria, seen in day hospital.
- Earlier treatment
- Must have stopped estrogen-progestin treatment for at least 3 months.
- Biomarker or test result
- Cases: a known pathogenic variant of the LMNA gene.
Main reasons for not taking part
- Severe kidney failure (GFR below 30 ml/min)
- Liver failure (TP below 50%)
- Taking corticosteroids or antiretrovirals
- Pregnant or breastfeeding, or menopausal
- Type 1 diabetes or pancreas removed, with insulin treatment
The registry criteria, word for word
Show all 15 criteriaShow less
Who can take part
- 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 take part
- Taking corticosteroids or antiretrovirals
- Taking estrogen-progestin therapy
- Hepato-cellular insufficiency (TP < 50%)
- Diabetic patients on insulin : type 1 diabetes or pancreatectomised patients
- Other known causes of hyperandrogenism (21-hydroxylase block, Cushing's syndrome, ovarian tumor)
- - Severe renal insufficiency (GFR < 30 ml/min)
- Menopausal women
- Pregnant woman
- Breastfeeding woman
Check if you might fit
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 18 and 45 years old?
Where in France
- Service Endocrinologie, Hôpital St AntoineParis, FranceContact: Sophie LAMOTHE, DoctorTaking people
About the trial
What the trial wants to find out
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).
The 2 groups in the trial
- CaseOther group
Patient with a Lipodystrophy Familial Partial due to a known pathogenic variant of the LMNA gene
Treatment: Genetic analysis, Biological analysis, and imaging test
- ControlOther group
Patient consulting for polycystic ovary syndrome in day hospital matched on age +/-5 years and BMI+/-5 kg/m2
Treatment: Standard intervention
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With "Classic" Polycystic Ovary Syndrome (PCOS)
- Plain-language title
- Looking for genetic insulin resistance disorders in women diagnosed with polycystic ovary syndromeGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Fit questions
- Built from NCT07412028, who can take part
- Record updated
- 10 August 2026