Assessment of Ovarian Reserve in Patients With Fragile X Premutation

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 40
Healthy Volunteers: f
View:

• \- 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

Locations
Other Locations
France
Endocrinologie et médecine de la reproduction Hôpital Pitié-Salpêtrière
RECRUITING
Paris
Contact Information
Primary
Anne BACHELOT
anne.bachelot@aphp.fr
01 42 16 02 46
Time Frame
Start Date: 2025-07-04
Estimated Completion Date: 2026-01
Participants
Target number of participants: 100
Related Therapeutic Areas
Sponsors
Leads: Assistance Publique - Hôpitaux de Paris

This content was sourced from clinicaltrials.gov