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Assessment of Ovarian Reserve in Patients With Fragile X Premutation

NCT07039734 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2025-07-09

No results posted yet for this study

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

Interventions

OTHER

collection of data from medical records

collection of data from medical records

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Eligibility

Min Age
18 Years
Max Age
40 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-07-04
Primary Completion
2026-01-31
Completion
2026-01-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07039734 on ClinicalTrials.gov