Examining Physiology and Brain Function in People With the Fragile X Premutation

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

110 participants

Study Classification

OBSERVATIONAL

Study Start Date

2007-06-30

Study Completion Date

2013-02-28

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Effect of Functional Genetic Polymorphisms on Brain Morphology and Function

NCT01035723

Drug Abuse

COMPLETED

Genetics of Recurrent Early Onset Major Depression

NCT00260182

Depression

COMPLETED

Microcephaly Genetic Deficiency in Neural Progenitors

NCT01565005

Microcephaly

COMPLETED

Genetic Aspects of Neurologic and Psychiatric Disorders

NCT00001544

Attention Deficit Disorder With Hyperactivity Bipolar Disorder Mental Disorder Diagnosed in Childhood +2 more

COMPLETED

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

NCT01187524

Fragile X Syndrome FMR1 Premutation Primary Ovairan Insufficiency +2 more

TERMINATED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

Fragile X Premutation

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

1

Men with the fragile X premutation

No interventions assigned to this group

2

Healthy men

No interventions assigned to this group

3

Brothers of men with the fragile X premutation

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Possesses FMR1 premutation or is part of the general population control group
* Normal or corrected vision
* Speaks English

Exclusion Criteria

* 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

Minimum Eligible Age

18 Years

Maximum Eligible Age

45 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

Yes