Clinical trial: Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label) (NCT01433354)

Eligibility criteria:
Inclusion Criteria:

          -  Group 1 patients:

          -  Must have completed study CAFQ056B2214 or another study of AFQ056 which included FXS
             patients below 18 years of age within one week of enrollment into the open-label
             study.

          -  Has a caregiver or caregivers who spend, on average, at least 6 hours per day with the
             patient , who is willing to and capable of supervising treatment, providing input into
             efficacy and safety assessments, and accompanying the patient to study visits.

          -  Group 2 patients:

          -  Must meet one of the following conditions:

          -  Completed Study CAFQ056B2131

          -  Completed Study CAFQ056B2214 or another study of AFQ056 which included FXS patients
             below 18 years of age but enrollment into the current study was delayed for more than
             a week.

          -  Discontinued prematurely from Study CAFQ056B2214 or another study of AFQ056 which
             included FXS patients below 18 years of age due to intolerability of the dosage in the
             patient's assigned treatment group.

          -  Has a caregiver or caregivers who spend, on average, at least 6 hours per day with the
             patient , who is willing to and capable of supervising treatment, providing input into
             efficacy and safety assessments, and accompanying the patient to study visits.

        Exclusion Criteria:

          -  Discontinuation from Study CAFQ056B2214 or CAFQ056B2131 or another study of AFQ056
             which included FXS patients below 18 years of age due to safety reasons

          -  Female patients who are sexually active at any time during the study

          -  Any advanced, severe or unstable disease

          -  History and/or presence of schizophrenia, bipolar disease, psychosis, confusional
             states and/or repeated hallucinations as per DSM-IV criteria

          -  History of suicidal behavior or considered a high suicidal risk

          -  History of severe self-injurious behavior

          -  History of uncontrolled seizure disorder or resistant to therapy within the past 2
             years (Patients who are clinically stable under anti-convulsant therapy for the past 2
             years are not excluded)

          -  History of clinically significant allergies requiring hospitalization or non-inhaled
             corticosteroid therapy (asthma, anaphylaxis, etc.)

          -  History of malignancy of any organ system (other than localized basal cell carcinoma
             of the skin), treated or untreated, within the past 5 years, regardless of whether or
             not there is evidence of local recurrence or metastases

          -  Patients who are using (or used within 6 weeks before baseline) digoxin or warfarin

          -  Using (or used within 6 weeks before baseline) concomitant medications that are potent
             inhibitors or inducers of CYP3A4

          -  Using glutamatergic agents (riluzole, memantine, etc.) or lithium within 6 weeks of
             baseline

        Other protocol-defined inclusion/exclusion criteria may apply.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 12 Years old.
Subject must be at most 18 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? 1