Ovarian reserve in women with the FMR1 (Fragile X) premutation
Official title: Assessment of Ovarian Reserve in Patients With Fragile X Premutation
Run by Assistance Publique - Hôpitaux de Paris · NCT07039734 · Data updated 2026-11-12
We will track ovarian reserve over time in women aged 18–40 who carry the FMR1 premutation to see if early markers predict later ovarian decline.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years to 40 Years |
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Drugs / interventions | chemotherapy |
| Locations | 1 site (Paris, France) |
| Status | Recruiting |
| Started | July 4, 2025 |
| Main results expected | January 2026 |
| Study ends | January 2026 |
| Registry record updated | July 9, 2025 |
| Trial ID | NCT07039734 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Women aged 18 to 40 who are confirmed carriers of the FMR1 premutation and who do not have a gynecologic history that has impacted ovarian reserve.
✕Probably not a fit
Women outside the 18–40 age range, those without a confirmed FMR1 premutation, or those with prior ovarian-damaging treatments/conditions are unlikely to gain useful information from this specific monitoring approach.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational project enrolls women 18–40 with a confirmed FMR1 premutation and collects clinical data and ovarian reserve markers (for example FSH and AMH) from medical records to monitor change over time. Patients with prior ovarian-impacting surgery, radiotherapy, chemotherapy, or endometriosis are excluded. The investigators will examine relationships between CGG repeat number ranges and ovarian reserve trajectories to identify patterns of increased risk. The work is conducted at Hôpital Pitié-Salpêtrière in Paris and involves no experimental treatments, only data collection and longitudinal follow-up.
Why it matters
Potential benefit: If successful, the results could help identify premutation carriers at higher risk of early ovarian decline so they can receive earlier fertility counseling or consider preservation options.
How similar studies have gone: Prior research has shown higher rates of premature ovarian insufficiency in FMR1 premutation carriers, but longitudinal studies of ovarian reserve over time are limited, making this approach relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * \- Women aged 18 to 40 years old, carriers of FMR1 premutation, regardless of the number of CGG triplet repeats * Informed patients who do not object to participating in the research- Patients who have been informed and do not object to participating in the research Exclusion Criteria: * \- Gynecological history that may have impacted ovarian reserve: surgery, radiotherapy, chemotherapy or endometriosis * Patients who are not affiliated with a social security scheme or who are not entitled to it * Patients under legal protection, or under guardianship or trusteeship.
Where it's running
-
Endocrinologie et médecine de la reproduction Hôpital Pitié-Salpêtrière
Paris, France, France Recruiting
Study contacts
- Study coordinator: Anne BACHELOT
- Email: anne.bachelot@aphp.fr
- Phone: 01 42 16 02 46
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.