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: Riluzole in Fragile X Syndrome

Eligibility criteria:
Inclusion Criteria:

          -  Males and females age 18 years or older.

          -  Confirmed molecular diagnosis of Fragile X Syndrome.

          -  Clinical Global Impression Severity (CGI-S) score of 3 or greater.

          -  Significant interfering repetitive behavior as determined by the principal
             investigator.

          -  Must be in good health as determined by screening procedures including a detailed
             medical history, and complete physical and neurological examination.

          -  Dosing of concomitant medications during the study must remain stable.

        Exclusion Criteria:

          -  Pregnancy.

          -  Concomitant use of another glutamatergic agent (memantine, topiramate, amantadine,
             among others.

          -  Evidence of prior trial of riluzole and/or hypersensitivity/allergic reaction to
             riluzole.

          -  Abnormal baseline liver function tests at screen or by history; or complete blood
             count abnormalities at screen or by history.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.


Eligibility (NLI label): Contradiction