FMR1 Gene PremutationROFRANCT07039734
Assessment of Ovarian Reserve in Patients With Fragile X Premutation
An observational study of FMR1 Gene Premutation, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 40 years
- Conditions the study is for
- FMR1 Gene Premutation
- What is being tested?
- collection of data from medical records
- How many people
- 100 participants
- Where
- 1 siteFrance
- Study dates
- 4 Jul 2025to Jan 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 40 years
- All sexes
- No healthy volunteers
- Adult
Study population: Patient with FMR1 premutation followed in one of the two recruiting departments.
Who may be able to join
- - 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
Who cannot join
- - 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Endocrinologie et médecine de la reproduction Hôpital Pitié-Salpêtrière
Paris, France, 75013
Anne BACHELOT, Pr, 01 42 16 02 46, anne.bachelot@aphp.fr
About this study
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.
Read more
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.
Read the 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
- Being tested
- collection of data from medical records
- Keywords
- POI, ovarian reserve, fertility
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
collection of data from medical recordsOther
collection of data from medical records
What is being measured
The primary outcome is the main question the study is designed to answer.
characterize ovarian reserve in women diagnosed with FMR1 premutation
AMH dosage
Measured: Day1
Secondary outcomes (3)
Gonadotrophic axis at diagnosis and annually
Measured: at diagnosis and annually
Endovaginal pelvic ultrasound with counting of antral follicles at diagnosis and annually
Measured: at diagnosis and annually
Duration of menstrual cycles
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jun 2025
- Study start4 Jul 2025
- Primary completionJan 2026 (estimated)
- Study completionJan 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for FMR1 Gene PremutationStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07039734
- Sponsor's protocol ID
- APHP250753
- Acronym
- ROFRA
- Status last verified
- Jul 2025
- First submitted
- 14 May 2025
- Last updated
- 9 Jul 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The procedures carried out with the French data privacy authority (CNIL, Commission nationale de l'informatique et des libertés) do not provide for the transmission of the database, nor do the information and consent documents signed by the patients. Consultation by the editorial board or interested researchers of individual participant data that underlie the results reported in the article after deidentification may nevertheless be considered, subject to prior determination of the terms and conditions of such consultation and in respect for compliance with the applicable regulations.
Study at a glance
From the registry record, last updated by the sponsor on 9 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of Ovarian Reserve in Patients With Fragile X Premutation
- ClinicalTrials.gov ID
- NCT07039734
- Acronym / sponsor ID
- ROFRA / APHP250753
- Conditions
- FMR1 Gene Premutation
- Keywords
- POI, ovarian reserve, fertility
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 4 Jul 2025 (actual)
- Primary completion
- Jan 2026 (estimated)
- Study completion
- Jan 2026 (estimated)
- First posted
- 26 Jun 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 to 40 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Patient with FMR1 premutation followed in one of the two recruiting departments.
Key inclusion criteria (2 listed)
- - 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
Key exclusion criteria (3 listed)
- - 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| collection of data from medical recordscollection of data from medical records | Other | – |
Primary outcome
characterize ovarian reserve in women diagnosed with FMR1 premutation
Time frame: Day1
AMH dosage
3 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jul 2025.
- Individual participant dataSharing planned: Yes. The procedures carried out with the French data privacy authority (CNIL, Commission nationale de l'informatique et des libertés) do not provide for the transmission of the database, nor do the information and consent documents signed by the patients. Consultation by the editorial board or interested researchers of individual participant data that underlie the results reported in the article after deidentification may nevertheless be considered, subject to prior determination of the terms and conditions of such consultation and in respect for compliance with the applicable regulations.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of FMR1 Gene Premutation, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 9 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Anne BACHELOT (01 42 16 02 46, anne.bachelot@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
characterize ovarian reserve in women diagnosed with FMR1 premutation (time frame: Day1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jul 2025.