Assessment of Ovarian Reserve in Patients With Fragile X Premutation
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: collection of data from medical records.
- Who it may be relevant to
- Registry conditions: FMR1 Gene Premutation. Basic parameters: 18 years — 40 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- Other collection of data from medical records
collection of data from medical records
Primary outcome measures
- characterize ovarian reserve in women diagnosed with FMR1 premutation [Time frame: Day1]
Secondary outcome measures (3)
- Gonadotrophic axis at diagnosis and annually [Time frame: at diagnosis and annually]
- Endovaginal pelvic ultrasound with counting of antral follicles at diagnosis and annually [Time frame: at diagnosis and annually]
- Duration of menstrual cycles [Time frame: Day 1]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Endocrinologie et médecine de la reproduction Hôpital Pitié-Salpêtrière — Paris
Identifiers
NCT: NCT07039734 · APHP250753