Patient case (clinical description): A 15-year-old boy with mild intellectual disability is brought to the office by his parents for a routine physical examination.  The boy is going to a school for students with learning disabilities.  The patient was adopted, and his immunizations are up to date.  Review of the patient's medical records is notable for cytogenetic studies that showed a small gap near the tip of the long arm of the X chromosome, which is consistent with fragile X syndrome, an X-linked disorder. The defect is an unstable expansion of trinucleotide repeats (CGG) in the fragile X mental retardation 1 (FMR1) gene, located on the long arm of the X chromosome. He is not using any medications and vital signs are within normal levels. His blood chemistry analysis as bellow:
Blood Chemistry Value      Normal Range     Patient Value
Glucose                    90-120 mg/dl     95 mg/dl
BUN (Blood Urea Nitrogen)  7-24 mg/dl       10 mg/dl
Creatinine                 0.7-1.4 mg/dl    0.8 mg/dl
Calcium                    8.5-10.5 mg/dl   9 mg/dl
Sodium                     134-143 mEq/L    135 mEq/L
Potassium                  3.5-4.5 mEq/L    3.7 mEq/L
Chloride                   95-108 mEq/L     98 mEq/L
CO2                        20-30 mEq/L      25 mEq/L
Blood pH                   7.38-7.42        7. 39

Patient's own account: My husband and I brought our 15-year-old son to the clinic for his routine exam. My son is going to school for special needs students. We adopted him a few years ago. His vaccinations are up to date. He already passed some chromosome testing and they found that he has a fragile X syndrome. The doctor told us that it comes from repeats in the fragile X chromosome. My son is not using any medication and his blood pressure temperature and breathing were normal during the exam. He also did a blood test. The results came back and showed that his blood sugar urea creatinine calcium sodium potassium chloride CO2 and blood pH were all within the normal range.

Clinical trial: Novel Clinical Target in Fragile X Syndrome

Eligibility criteria:
INCLUSION CRITERIA

        Inclusion criteria for healthy volunteers:

          1. Ages 18-65

          2. Either gender and all ethno-racial categories

          3. Capacity to provide informed consent

          4. 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)

          5. Can travel to Stanford for 2 scan days.

        Inclusion criteria for individuals with FXS:

          1. Males who are physically healthy

          2. Aged between 18 and 30 years inclusive

          3. Can travel to Stanford for a 2-day visit.

          4. IQ between 40 and 80 points.

          5. Ability to remain seated for more than 10 minutes.

          6. 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:

          1. Any current or lifetime psychiatric diagnosis

          2. Current or past use of psychotropic medication for purposes of treating a mental
             illness

          3. Pregnant or nursing females

          4. 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)

          5. Current diagnosis of vasculopathy or Raynouds

          6. Participant is unable to tolerate being off of anticoagulant medication during study

          7. Positive urine screen for illicit drugs

          8. Presence of metal in the body that is contraindicated for MRI scans

          9. Current exposure to radiation in the workplace, or history of participation in nuclear
             medicine procedures does not exceed defined annual limits

         10. 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:

          1. Any contraindication for MRI scanning procedures (metal in body, braces,
             claustrophobia, etc.)

          2. No history of with substance abuse, traumatic brain injury and

          3. BMI greater than 18.5

          4. Diagnosis of a known genetic disorder (other than FXS).

          5. Active medical problems such as unstable seizures, congenital heart disease, endocrine
             disorders.

          6. Significant sensory impairments such as blindness or deafness.

          7. DSM-5 diagnosis of other severe psychiatric disorder such as bipolar disorder or
             schizophrenia.

          8. Pre-term birth (<34 weeks' gestation) or low birth weight (<2000g).

          9. 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.

         10. Current exposure to radiation in the workplace, or history of participation in nuclear
             medicine procedures does not exceed defined annual limits
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 18 Years old.
Subject must be at most 65 Years

Eligibility (NLI label): Contradiction