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: Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients

Eligibility criteria:
Inclusion Criteria:

          -  Male, non-smoking patients between 18 and 35 years of age (both inclusive).

          -  Patients with fmr1 full mutation (> 200 CGG repeats)

          -  Patients with a Clinical Global Impression Severity Score (CGI-S) of > 4 (moderately
             ill)

          -  Patients with a score of >20 in the ABC-C scale (at screening)

          -  Patients with a mental age of ≥ 48 months as measured by the Stanford-Binet test

        Exclusion Criteria:

          -  Patients with DSM-IV diagnosis of schizophrenia, history and/or presence of psychosis,
             confusional states and/or repeated hallucinations.

          -  Patients with a history of seizures in the past 5 years without any therapeutic
             treatment controlling the disorders.

          -  Patients under stable anti-convulsant therapies that experienced seizures in the 2
             years prior to randomization

          -  Patients with ECG abnormalities, autonomic dysfunctions, bronchospastic diseases, drug
             or atopic allergy

          -  Any surgical or medical condition which might significantly alter the absorption,
             distribution, metabolism or excretion of drugs

          -  Patients using (or have used within four weeks before randomization) concomitant
             medications that are potent inhibitors of CYP3A4 (e.g., ketoconazole, ritonavir, etc.)

        Other protocol-defined inclusion/exclusion criteria may apply.
Male
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.
Subject must be at most 35 Years

Eligibility (NLI label): Entailment