Novel Clinical Target in Fragile X Syndrome
Fragile X Syndrome (FXS)
About this trial
This is an interventional other trial for Fragile X Syndrome (FXS) focused on measuring FXS
Eligibility Criteria
INCLUSION CRITERIA
Inclusion criteria for healthy volunteers:
- Ages 18-65
- Either gender and all ethno-racial categories
- Capacity to provide informed consent
- Female participants are expected to use an effective method of birth control throughout the study which includes: hormonal methods (birth control pills, patches, injections, vaginal ring or implants), barrier method (condom or diaphragm) used with spermicide, intrauterine device (IUD), or abstinence (no sex)
- Can travel to Stanford for 2 scan days.
Inclusion criteria for individuals with FXS:
- Males who are physically healthy
- Aged between 18 and 30 years inclusive
- Can travel to Stanford for a 2-day visit.
- IQ between 40 and 80 points.
- Ability to remain seated for more than 10 minutes.
- Have an established genetic diagnosis of FXS (full mutation with evidence of aberrant methylation of the FMR1 gene, confirmed by genetic testing).
EXCLUSION CRITERIA
Exclusion criteria for healthy volunteers:
- Any current or lifetime psychiatric diagnosis
- Current or past use of psychotropic medication for purposes of treating a mental illness
- Pregnant or nursing females
- Major medical or neurological problem, including anemia (Hb , 12 g/dl in women and <14 g/dl in men) (e.g., unstable hypertension, seizure disorder, head trauma)
- Current diagnosis of vasculopathy or Raynouds
- Participant is unable to tolerate being off of anticoagulant medication during study
- Positive urine screen for illicit drugs
- Presence of metal in the body that is contraindicated for MRI scans
- Current exposure to radiation in the workplace, or history of participation in nuclear medicine procedures does not exceed defined annual limits
- Stanford University student status (i.e., we will exclude students such as undergrads, grad students and postdocs that currently attend at Stanford University)
Exclusion criteria for individuals with FXS:
- Any contraindication for MRI scanning procedures (metal in body, braces, claustrophobia, etc.)
- No history of with substance abuse, traumatic brain injury and
- BMI greater than 18.5
- Diagnosis of a known genetic disorder (other than FXS).
- Active medical problems such as unstable seizures, congenital heart disease, endocrine disorders.
- Significant sensory impairments such as blindness or deafness.
- DSM-5 diagnosis of other severe psychiatric disorder such as bipolar disorder or schizophrenia.
- Pre-term birth (<34 weeks' gestation) or low birth weight (<2000g).
- Current use of benzodiazepines. Individuals who are taking concomitant psychoactive medications will be tracked and examined in post-hoc analyses, given that it is extremely difficult to recruit individuals who are medication-free or who are willing to go off those medications prior to entering the study.
- Current exposure to radiation in the workplace, or history of participation in nuclear medicine procedures does not exceed defined annual limits
Sites / Locations
- Stanford University
Arms of the Study
Arm 1
Arm 2
Experimental
Experimental
Fragile X Syndrome
Healthy Volunteers (Control)
Adult males aged 18-30 years diagnosed with FXS will undergo a PET/MRI scan using 18F-FTC-146 to determine sigma-1 receptor density. These participants will only be administered once with 18F-FTC-146.
Adults aged 18-65 years undergo a PET/MRI scan using 18F-FTC-146 to determine sigma-1 receptor density. Test-retest studies will be performed where these individuals will each be injected twice with 18F-FTC-146.