Status:
WITHDRAWN
Novel Clinical Target in Fragile X Syndrome
Lead Sponsor:
Guido A. Davidzon, MD, SM
Conditions:
Fragile X Syndrome (FXS)
Eligibility:
All Genders
18-65 years
Phase:
PHASE1
Brief Summary
Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder (ASD). The investigators wish to examine brain distribution of sigma-1 receptors in young adult males with FXS usi...
Detailed Description
In this study, we measured sigma-1 receptor density in the regions of interest in brain known to be involved in executive functioning and cognition using 18F-FTC-146 PET. We then compared S1R density ...
Eligibility Criteria
Inclusion
- 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
Exclusion
Key Trial Info
Start Date :
January 12 2021
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
June 1 2022
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT04314856
Start Date
January 12 2021
End Date
June 1 2022
Last Update
November 15 2022
Active Locations (1)
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1
Stanford University
Stanford, California, United States, 94305