Fragile X PremutationNCT00879502
Examining Physiology and Brain Function in People With the Fragile X Premutation
An observational study of Fragile X Premutation, run by University of California, Davis at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 45 years, men onlyHealthy volunteers can take part
- Conditions the study is for
- Fragile X Premutation
- How many people
- 110 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2007to Feb 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 45 years
- Men only
- Healthy volunteers accepted
- Adult
Study population: Members of the general population, those with the fragile X premutation, and the brothers of those with the fragile X premutation
Who may be able to join
- Possesses FMR1 premutation or is part of the general population control group
- Normal or corrected vision
- Speaks English
Who cannot join
- Presence of contraindication for brain MRI, such as having metal in the body
- Presence of a major medical condition, such as kidney, heart, or liver disease
- Presence of a neurological disorder
- Current alcohol or drug abuse or dependence
- History of head trauma
- History of brain infection
- Medication affecting cerebral blood flow
Trial locations and contacts
1 site in 1 country.
United States1 site
M.I.N.D. Institute, U.C. Davis
Sacramento, California, 95817
About this study
Official title: Limbic System Function in Carriers of the Fragile X Premutation
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.
Read the 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.
- Conditions
- Fragile X Premutation
- Keywords
- Fragile X Premutation, FMR1, Premutation, Fragile X, Brain Function
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Men with the fragile X premutation | |
| 2 | Healthy men | |
| 3 | Brothers of men with the fragile X premutation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Amygdala and hippocampus volume and function
Measured: Age at time of visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Apr 2009 (estimated)
- Study startJun 2007
- Primary completionFeb 2013
- Study completionFeb 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fragile X PremutationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 110 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of California, Davis
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Mental Health (NIMH)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00879502
- Sponsor's protocol ID
- 200614734
- Other IDs
- R01MH078041, DDTR B2-MBA
- Status last verified
- May 2017
- First submitted
- 9 Apr 2009
- Last updated
- 30 May 2017
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 30 May 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Limbic System Function in Carriers of the Fragile X Premutation
- ClinicalTrials.gov ID
- NCT00879502
- Acronym / sponsor ID
- 200614734
- Conditions
- Fragile X Premutation
- Keywords
- Fragile X Premutation, FMR1, Premutation, Fragile X, Brain Function
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 110 participants (actual)
- Lead sponsor
- University of California, DavisUniversity, hospital or other
- Collaborators
- National Institute of Mental Health (NIMH)
- Study start
- Jun 2007
- Primary completion
- Feb 2013 (actual)
- Study completion
- Feb 2013 (actual)
- First posted
- 10 Apr 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Men with the fragile X premutation |
| 2 | – | –Healthy men |
| 3 | – | –Brothers of men with the fragile X premutation |
Who may qualify
- Ages
- 18 to 45 years
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- Members of the general population, those with the fragile X premutation, and the brothers of those with the fragile X premutation
Key inclusion criteria (3 listed)
- Possesses FMR1 premutation or is part of the general population control group
- Normal or corrected vision
- Speaks English
Key exclusion criteria (7 listed)
- Presence of contraindication for brain MRI, such as having metal in the body
- Presence of a major medical condition, such as kidney, heart, or liver disease
- Presence of a neurological disorder
- Current alcohol or drug abuse or dependence
- History of head trauma
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Amygdala and hippocampus volume and function
Time frame: Age at time of visit
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 May 2017.
- Click here for information on the M.I.N.D. InstituteLink provided by the sponsor.
Related trials for Fragile X Premutation
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fragile X Premutation, run by University of California, Davis at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 30 May 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Amygdala and hippocampus volume and function (time frame: Age at time of visit). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 May 2017; AzTrials last refreshed its copy on 1 Nov 2026.