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) (NCT01482143)

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

Patient description (medical language): 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 description (patient's own words): 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.

Does the patient match the trial criteria? Contradiction