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: Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)

Eligibility criteria:
Inclusion Criteria:

          -  Genetically confirmed diagnosis of FXS

          -  At Screening and first baseline, vital signs, body weight and body mass index (BMI)
             must be age-specific within normal ranges.

        Exclusion Criteria:

          -  Use of any other investigational drug within 30 days or 5 half-lives (whichever is
             longer) of the investigational drug prior to screening until end of study visit.

          -  History of hypersensitivity to AFQ056 or any mGluR antagonist.

          -  Female patients who are confirmed or suspected to be sexually active.

          -  History or presence of any clinically significant disease of any major system organ
             class, within the past 2 years prior to screening including but not limited to
             psychiatric, neurological, cardiovascular, endocrine, metabolic, renal, or
             gastrointestinal disorders (except for typical features of FXS).

          -  Smokers.

          -  Loss of ≥10% of total blood volume within 8 weeks (or less if required for this age
             group and/or by local regulation) prior to dosing or longer if required for this age
             group and/or by local regulation.

          -  Significant illness that did not completely resolve at least four weeks prior to the
             first baseline visit.

          -  Any abnormal laboratory values at screening or first baseline that are in the opinion
             of the investigator clinically significant and may jeopardize the safety of the study
             subject.

          -  Use of (or use within at least 5 half lives before dosing) concomitant medications
             that are strong/moderate inhibitors or inducers of CYP1A1/2, CYP2C9/19 or CYP3A4

          -  History or presence of Hepatitis B/C or HIV at screening
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 3 Years old.
Subject must be at most 11 Years

Eligibility (NLI label): Contradiction