Status:
TERMINATED
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
Lead Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions:
Fragile X Syndrome
FMR1 Premutation
Eligibility:
FEMALE
18+ years
Brief Summary
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 menst...
Detailed Description
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 ...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Women ages 18 and older
- FMR1 CGG repeats numbering between 55 and 199, as determined by standard Southern blot and PCR techniques.
- EXCLUSION CRITERIA:
- Males
- Children
- Women who do not have an FMR1 pre-mutation (CGG repeat number \<55 or \>199)
- Inability to make personal medical decisions
- CRITERIA FOR SCREENING FOR THE FMR1 PRE-MUTATION:
- Family history of Fragile X syndrome or mental retardation
- Personal or family history of primary ovarian insufficiency (or POF or premature menopause )
- Personal or famiy history of tremor ataxia syndrome or Parkinson s disease
Exclusion
Key Trial Info
Start Date :
August 5 2010
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
May 31 2013
Estimated Enrollment :
7 Patients enrolled
Trial Details
Trial ID
NCT01187524
Start Date
August 5 2010
End Date
May 31 2013
Last Update
October 6 2017
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892