NCT07039734 Assessment of Ovarian Reserve in Patients With Fragile X Premutation
| NCT ID | NCT07039734 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Assistance Publique - Hôpitaux de Paris |
| Condition | FMR1 Gene Premutation |
| Study Type | OBSERVATIONAL |
| Enrollment | 100 participants |
| Start Date | 2025-07-04 |
| Primary Completion | 2026-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 100 participants in total. It began in 2025-07-04 with a primary completion date of 2026-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Premature ovarian failure (POF) affects 1% of women under the age of 40 and is defined by the presence of a disorder of the cycle such as spaniomenorrhea or amenorrhea and an increase in FSH \> 25 IU/l on two occasions a few weeks apart. The prevalence of premature ovarian failure in women carrying the FMR1 gene premutation is estimated to be between 13 and 26%. Conversely, patients carrying premutations have been identified in 0.8 to 7.5% of women with sporadic POI and up to 13% of women with a familial form of POI. The variability in penetrance seems to be due, among other things, to the increased probability of POI with the increased number of CGG repeats. This relationship is not linear; indeed, the risk appears to increase with the increase in the number of CGG triplets between 59 and 99, then the risk reaches a plateau or even decreases for women with more than 100 repeats. Patients with a full FMR1 mutation are not at a higher risk of POI than the general population. The systematic evaluation of ovarian function and reserve in patients with FMR1 premutation and the monitoring of the latter over time is therefore a major element in the management of these women in order to be able to provide them with advice regarding their fertility or even to discuss ways of preserving their fertility. There are no longitudinal data on the evolution of ovarian reserve over time in pre-matured women, nor is there any determination of early predictive factors for its alteration. We propose to retrospectively evaluate ovarian function and its evolution over time in pre-matured women seen in 2 reference centers (Paris, Lyon) based on questionnaires, blood tests and pelvic ultrasound.
Eligibility 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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07039734 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, up to 40 Years, studying FMR1 Gene Premutation. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07039734 currently recruiting?
Yes, NCT07039734 is actively recruiting participants. Contact the research team at anne.bachelot@aphp.fr for enrollment information.
Where is the NCT07039734 trial being conducted?
This trial is being conducted at Paris, France.
Who is sponsoring the NCT07039734 clinical trial?
NCT07039734 is sponsored by Assistance Publique - Hôpitaux de Paris. The trial plans to enroll 100 participants.