Ignite Creation Date:
2025-12-25 @ 2:39 AM
Ignite Modification Date:
2025-12-28 @ 11:05 PM
Study NCT ID:
NCT07039734
Status:
RECRUITING
Last Update Posted:
2025-07-09
First Post:
2025-05-14
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Assessment of Ovarian Reserve in Patients With Fragile X Premutation
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 100}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2025-07-04', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-07', 'completionDateStruct': {'date': '2026-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-07-04', 'studyFirstSubmitDate': '2025-05-14', 'studyFirstSubmitQcDate': '2025-06-18', 'lastUpdatePostDateStruct': {'date': '2025-07-09', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2025-06-26', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'characterize ovarian reserve in women diagnosed with FMR1 premutation', 'timeFrame': 'Day1', 'description': 'AMH dosage'}], 'secondaryOutcomes': [{'measure': 'Gonadotrophic axis at diagnosis and annually', 'timeFrame': 'at diagnosis and annually'}, {'measure': 'Endovaginal pelvic ultrasound with counting of antral follicles at diagnosis and annually', 'timeFrame': 'at diagnosis and annually'}, {'measure': 'Duration of menstrual cycles', 'timeFrame': 'Day 1'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['POI', 'ovarian reserve', 'fertility'], 'conditions': ['FMR1 Gene Premutation']}, 'descriptionModule': {'briefSummary': '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.\n\nThe 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.\n\nThe 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.\n\nThe 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.\n\nWe 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.', 'detailedDescription': '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.\n\nThe 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.\n\nThe 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.\n\nThe 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.\n\nWe 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT'], 'maximumAge': '40 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patient with FMR1 premutation followed in one of the two recruiting departments.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* \\- Women aged 18 to 40 years old, carriers of FMR1 premutation, regardless of the number of CGG triplet repeats\n* 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\n\nExclusion Criteria:\n\n* \\- Gynecological history that may have impacted ovarian reserve: surgery, radiotherapy, chemotherapy or endometriosis\n* Patients who are not affiliated with a social security scheme or who are not entitled to it\n* Patients under legal protection, or under guardianship or trusteeship.'}, 'identificationModule': {'nctId': 'NCT07039734', 'acronym': 'ROFRA', 'briefTitle': 'Assessment of Ovarian Reserve in Patients With Fragile X Premutation', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Assessment of Ovarian Reserve in Patients With Fragile X Premutation', 'orgStudyIdInfo': {'id': 'APHP250753'}}, 'armsInterventionsModule': {'interventions': [{'name': 'collection of data from medical records', 'type': 'OTHER', 'description': 'collection of data from medical records'}]}, 'contactsLocationsModule': {'locations': [{'zip': '75013', 'city': 'Paris', 'state': 'France', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Anne BACHELOT, Pr', 'role': 'CONTACT', 'email': 'anne.bachelot@aphp.fr', 'phone': '01 42 16 02 46'}], 'facility': 'Endocrinologie et médecine de la reproduction Hôpital Pitié-Salpêtrière', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'centralContacts': [{'name': 'Anne BACHELOT', 'role': 'CONTACT', 'email': 'anne.bachelot@aphp.fr', 'phone': '01 42 16 02 46'}]}, 'ipdSharingStatementModule': {'infoTypes': ['STUDY_PROTOCOL', 'ICF'], 'timeFrame': 'Beginning 3 months and ending 3 years following article publication. Requests out of these time frame can also be submitted to the sponsor', 'ipdSharing': 'YES', 'description': "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.\n\nConsultation 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.", 'accessCriteria': 'Researchers who provide a methodologically sound proposal.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}