FMR1 Premutation clinical trials

The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry

Background: - In human DNA, the Fragile X (FMR1) gene helps to regulate the nervous and reproductive systems. If the gene is abnormal, it can cause different kinds of problems, such as abnormal menstrual periods, decreased fertility, muscle tremors, and mental retardation. An abnormal FMR1 gene can also make a person more susceptible to other medical conditions, such as thyroid problems, high blood pressure, seizures, and depression. More research is needed on how abnormalities in the FMR1 gene can lead to these problems, and how often these problems appear in individuals with an abnormal FMR1 gene. - Researchers are interested in developing a patient registry of women who have an abnormality in the FMR1 gene. This registry will allow researchers to follow participants over time and study possible effects of this abnormality on their general and reproductive health. Objectives: - To develop a patient registry of women with an abnormal FMR1 gene and monitor their general and reproductive health. Eligibility: - Women at least 18 years of age who have an abnormal FMR1 gene on the X chromosome. Design: - The following groups of women will be eligible for screening for this study: - Those who have a family member with Fragile X Syndrome or mental retardation - Those who have (or have a family member who has) primary ovarian insufficiency, also known as premature menopause - Those who have (or have a family member who has) certain neurological problems such as tremors or Parkinson's disease. - Eligible participants will be scheduled for an initial study visit at the National Institutes of Health Clinical Center. Participants who have regular menstrual periods should schedule the visit between days 3 and 8 of the menstrual cycle; those who do not have regular periods may have the visit at any time of the month. In addition, all estrogen-based treatments (such as birth control pills) must be stopped for 2 weeks prior to the study visit. - Participants will have a full physical examination, provide a medical history, and provide blood samples for immediate and future testing. Participants will return for yearly visits for the same tests for as long as the study continues. - Participants who have or develop primary ovarian insufficiency related to the FMR1 gene will also have tests to measure bone thickness and will have a vaginal ultrasound to examine the ovaries. These tests will be scheduled for a separate visit, and will be repeated every 5 years for the duration of the study.