Assessment of Ovarian Reserve in Patients With Fragile X Premutation

NCT ID: NCT07039734

Last Updated: 2025-07-09

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 100 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-07-04
• Study Completion Date: 2026-01-31

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.

Detailed Description

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.

Conditions

FMR1 Gene Premutation

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

Interventions

collection of data from medical records

collection of data from medical records

Intervention Type: OTHER

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.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 40 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Endocrinologie et médecine de la reproduction Hôpital Pitié-Salpêtrière

Paris, France, France

Site Status: RECRUITING

Countries

France

Central Contacts

Anne BACHELOT

Role: CONTACT

anne.bachelot@aphp.fr

01 42 16 02 46

Facility Contacts

Anne BACHELOT, Pr

Role: primary

anne.bachelot@aphp.fr

01 42 16 02 46

Other Identifiers

APHP250753

Identifier Type: -

Identifier Source: org_study_id