Examining Physiology and Brain Function in People With the Fragile X Premutation
Recruitment status was Recruiting
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| First Received Date ICMJE | April 9, 2009 | ||||||||
| Last Updated Date | August 19, 2009 | ||||||||
| Start Date ICMJE | June 2007 | ||||||||
| Estimated Primary Completion Date | May 2012 (final data collection date for primary outcome measure) | ||||||||
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| Change History | Complete list of historical versions of study NCT00879502 on ClinicalTrials.gov Archive Site | ||||||||
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| Descriptive Information | |||||||||
| Brief Title ICMJE | Examining Physiology and Brain Function in People With the Fragile X Premutation | ||||||||
| Official Title ICMJE | Limbic System Function in Carriers of the Fragile X Premutation | ||||||||
| Brief Summary | This study will examine whether individuals with the fragile X genetic premutation are likely to have emotional, social, and memory deficits and how the brain may be involved in these deficits. |
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| Detailed Description | FMR1 is a gene associated with fragile X syndrome—the most common cause of mental retardation—and with social, emotional, and cognitive deficits. The chance of developing these deficits depends on the number of times the FMR1 gene is repeated on the X chromosome. Individuals with more than 200 copies of the FMR1 gene have the full fragile X mutation, putting them at most risk for mental retardation. Individuals with between 55 and 200 copies of the FMR1 gene have the fragile X premutation; they are much less likely to develop mental retardation, but they may have subtle social, emotional, and cognitive deficits and their children are more likely to have the full fragile X mutation. A theory, which this study will test, holds that the deficits of people with the fragile X premutation are caused by dysfunction in the limbic system. The limbic system consists of a group of structures in the brain that govern emotions and behavior. This study will examine people with the fragile X premutation to determine whether and to what extent they have emotional, social, and memory deficits. The study will also determine whether changes in fragile X gene function are related to increased deficits and how the brain, and specifically the limbic system, may be involved in these deficits. Participation in this study will last 2 days. Participants will undergo several hours of testing at a lab on back-to-back days. Testing on the first day will include the following: providing several saliva samples; undergoing neuropsychological testing, in which participants will solve different types of problems and be interviewed about their emotional and social experiences; and undergoing a physical exam and blood draw. Testing on the second day will include the following: an MRI scan, which will take pictures of the brain both while participants are resting and while they are performing certain tasks; more neuropsychological testing similar to that from the day before; and questionnaires about emotional and social experiences. A family member will also be asked to fill out a questionnaire about the participant. On 2 other days, participants will be asked to collect saliva samples while at their homes and send the samples to the study researchers. In addition, the researchers will keep in contact with participants in case any follow-up is needed over the next few years. |
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| Study Type ICMJE | Observational | ||||||||
| Study Design ICMJE | Observational Model: Case Control Time Perspective: Cross-Sectional |
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| Biospecimen | Retention: Samples With DNA Description: Saliva and blood samples |
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| Sampling Method | Non-Probability Sample | ||||||||
| Study Population | Members of the general population, those with the fragile X premutation, and the brothers of those with the fragile X premutation |
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| Condition ICMJE | Child Developmental Disorders, Pervasive | ||||||||
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| Study Group/Cohort (s) |
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| Publications * | |||||||||
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status ICMJE | Recruiting | ||||||||
| Estimated Enrollment ICMJE | 130 | ||||||||
| Estimated Completion Date | May 2012 | ||||||||
| Estimated Primary Completion Date | May 2012 (final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria ICMJE | Inclusion Criteria:
Exclusion Criteria:
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| Gender | Male | ||||||||
| Ages | 18 Years to 45 Years | ||||||||
| Accepts Healthy Volunteers | Yes | ||||||||
| Contacts ICMJE |
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| Location Countries ICMJE | United States | ||||||||
| Administrative Information | |||||||||
| NCT Number ICMJE | NCT00879502 | ||||||||
| Other Study ID Numbers ICMJE | R01 MH078041, DDTR B2-MBA | ||||||||
| Has Data Monitoring Committee | Yes | ||||||||
| Responsible Party | David Hessl, PhD, University of California, Davis | ||||||||
| Study Sponsor ICMJE | National Institute of Mental Health (NIMH) | ||||||||
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| Investigators ICMJE | |||||||||
| Information Provided By | National Institute of Mental Health (NIMH) | ||||||||
| Verification Date | May 2009 | ||||||||
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ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |
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