Assessment of Ovarian Reserve in Patients With Fragile X Premutation

NCT07039734 | Recruiting

• 1 other identifier: APHP250753
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

FMR1 Gene Premutation

Keywords

POI; ovarian reserve; fertility

Outcome Measures

Primary Outcomes (1)

• characterize ovarian reserve in women diagnosed with FMR1 premutation

  AMH dosage

  Day1

Secondary Outcomes (3)

• Gonadotrophic axis at diagnosis and annually

  at diagnosis and annually

• Endovaginal pelvic ultrasound with counting of antral follicles at diagnosis and annually

  at diagnosis and annually

• Duration of menstrual cycles

  Day 1

Interventions

collection of data from medical records OTHER

collection of data from medical records

Eligibility Criteria

• Age: 18 Years - 40 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patient with FMR1 premutation followed in one of the two recruiting departments.

You may qualify if:

• \- 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

You may not qualify if:

• \- 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.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Endocrinologie et médecine de la reproduction Hôpital Pitié-Salpêtrière

Paris, France, 75013, France

RECRUITING

Central Study Contacts

Anne BACHELOT

CONTACT

01 42 16 02 46; anne.bachelot@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 14, 2025
• First Posted: June 26, 2025
• Study Start: July 4, 2025
• Primary Completion: January 1, 2026
• Study Completion: January 1, 2026
• Last Updated: July 9, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• Time Frame: Beginning 3 months and ending 3 years following article publication. Requests out of these time frame can also be submitted to the sponsor
• Access Criteria: Researchers who provide a methodologically sound proposal.

Locations

FR (1)