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: A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome

Eligibility criteria:
Inclusion Criteria:

          -  Male subjects 18 to 50 years of age, inclusive.

          -  Molecular documentation of the full fragile X mutation.

        Exclusion Criteria:

          -  Subjects with a history of seizure disorder who are, in the opinion of the
             Investigator and Medical Monitor, not currently considered to be well controlled.

          -  Subjects currently being treated with psychoactive medications (including stimulants
             and anxiolytics).

          -  Subjects with any condition, including alcohol and drug abuse, which might interfere
             with the conduct of the study, confound interpretation of the study results, or
             endanger their own well-being. 4. Subjects who plan to initiate or change
             pharmacologic or non-pharmacologic interventions during the course of the study.

          -  Subjects who, in the Investigator's opinion, might not be suitable for the study
Male
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.
Subject must be at most 50 Years

Eligibility (NLI label): Contradiction