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
|First Submitted Date||August 21, 2010|
|First Posted Date||August 24, 2010|
|Last Update Posted Date||October 6, 2017|
|Start Date||August 5, 2010|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures||Not Provided|
|Original Primary Outcome Measures||Not Provided|
|Change History||Complete list of historical versions of study NCT01187524 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Outcome Measures||Not Provided|
|Original Other Outcome Measures||Not Provided|
|Brief Title||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|
|Official Title||The Natural History of Reproductive and Overall Health in Women With a Pre-Mutation in the FMR1 Gene: Creation of a Patient Registry|
- To develop a patient registry of women with an abnormal FMR1 gene and monitor their general and reproductive health.
- Women at least 18 years of age who have an abnormal FMR1 gene on the X chromosome.
Spontaneous 46,XX primary ovarian insufficiency (POI) is a cause of decreased fertility in approximately 1% of women before age 40. The most common known genetic cause of 46,XX POI is a pre -mutation in the Fragile X Mental Retardation (FMR1) gene. The FMR1 gene is located on the X-chromosome and contains a CGG repeat in the un-translated region; this CGG repeat is normally present in less than 55 copies, but has a tendency to expand across generations. Greater than 200 CGG copies results in Fragile X Syndrome (FXS), the most common form of heritable mental retardation. A pre-mutation in the FMR1 gene, defined as between 55 and 199 CGG repeats, is associated with POI in women and carries a risk of expanding to the full mutation in a woman s offspring, resulting in a child with FXS. POI that is associated with the FMR1 pre-mutation is known as Fragile X-associated POI ( FXPOI ). Approximately 20% of women with an FMR1 pre-mutation develop FXPOI. Importantly, it is not known why some women with the pre-mutation develop FXPOI and others do not. The primary objective of this study is to characterize the natural history of reproductive function in women who are FMR1 pre-mutation carriers by creating a patient registry that will allow us to follow them longitudinally. Given the relative rarity of this pre-mutation in the general population (<1%), a patient registry is necessary for enrollment of an adequate number of patients for clinically significant analyses to be performed.
In order to characterize the natural history of reproductive function in this population, we will longitudinally track reproductive health of participants, including menstrual history, pregnancy rate, and biological (serum) markers of ovarian function. The FMR1 pre-mutation may also be associated with specific general health risks, such as hypertension, thyroid disease, neurological disorders, and psychiatric disorders. A patient registry will also allow us to track development of these and other common medical conditions to determine if women with the FMR1 pre-mutation have increased health risks. Currently, there are no screening guidelines regarding reproductive or general health for women who carry the FMR1 pre-mutation, and observations from longitudinal data will help to develop such guidelines. Finally, standardized guidelines for genetic counseling of women with the FMR1 pre-mutation regarding genetic risk to their children do not exist, and data collected in this study will enable this.
|Study Design||Time Perspective: Other|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Estimated Completion Date||May 31, 2013|
|Primary Completion Date||Not Provided|
CRITERIA FOR SCREENING FOR THE FMR1 PRE-MUTATION:
|Ages||18 Years and older (Adult, Senior)|
|Accepts Healthy Volunteers||No|
|Contacts||Contact information is only displayed when the study is recruiting subjects|
|Listed Location Countries||United States|
|Removed Location Countries|
|Other Study ID Numbers||100144
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||May 31, 2013|