Assessment of Ovarian Reserve in Patients With Fragile X Premutation

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Jun 18, 2025

Keywords

ClinConnect Summary

This clinical trial is studying how the ovarian reserve, which is a measure of a woman’s fertility potential, changes over time in women who carry a specific genetic change called the FMR1 premutation. Women with this genetic change have a higher chance of experiencing premature ovarian failure, meaning their ovaries stop working earlier than usual, often before age 40. The study aims to better understand how ovarian function evolves in these women and to identify early signs that might predict fertility problems.

Women between 18 and 40 years old who carry the FMR1 premutation and are willing to participate may be eligible for this study. Participants will be asked to provide information through questionnaires, have blood tests, and undergo pelvic ultrasounds to assess their ovarian health. The study will be done at two centers in France and does not yet start recruiting. It’s important to note that women who have had certain medical treatments or conditions affecting their ovaries, or who do not have social security coverage, will not be eligible. This research could help doctors give better advice about fertility and options for preserving it in women with this genetic change.

Gender

ALL

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.