Clinical trial: A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome (NCT00420459)

Eligibility criteria:
Inclusion Criteria:

          1. Males and females between the ages of 5 and 35 years and

          2. Body weight greater than or equal to 15 kg

          3. Confirmed diagnosis of Fragile X Syndrome based upon genetic testing results.

          4. Outpatients.

          5. Psychotropic medication-free for at least 2 weeks prior to screening laboratory tests
             and electrocardiogram. (Except 5 weeks for fluoxetine and 4 weeks for all typical and
             atypical antipsychotics that have been administered for at least a 4 week period.)
             Exceptions to medication-free status will include drugs given at bedtime targeting
             insomnia. Such drugs may include melatonin, clonidine, chloral hydrate,
             diphenhydramine, ramelteon, benzodiazepines, or other sedative-hypnotics.

          6. Clinical Global Impression Scale Severity score (CGI-S) of at greater than or equal to
             4 (Moderately Ill)

          7. A score of at greater than or equal to 18 on the Irritability subscale of the Aberrant
             Behavior Checklist (ABC) at screen and baseline.

          8. Mental age of greater than or equal to 18 months as measured by the Wechsler, revised
             Leiter, or Mullen tests

          9. Each subject must be in good physical health as determined by screening procedures
             which will include a detailed medical history, complete physical and neurological
             examination.

        Exclusion Criteria:

          1. DSM-IV diagnosis of schizophrenia, another psychotic disorder, bipolar disorder or
             alcohol or other substance abuse within the last 6 months.

          2. A significant medical condition such as heart, liver, renal or pulmonary disease, or
             an actively treated seizure disorder, as determined by history, physical examination
             or laboratory testing.

          3. Subjects with an unstable seizure disorder will be excluded.

          4. Females with a positive urine pregnancy test.

          5. Evidence of a prior adequate trial of aripiprazole (defined as a duration of greater
             than or equal to 2 weeks at a dose of at least 5 mg per day). When there is not
             evidence of a prior adequate trial of aripiprazole, subjects must be medication-free
             for at least 2 weeks prior to baseline.

          6. Evidence of hypersensitivity to aripiprazole (defined as an allergic response [e.g.,
             skin rash] or potentially serious adverse effect [e.g., significant tachycardia]).

          7. History of neuroleptic malignant syndrome.

          8. Subjects who, in the opinion of the investigator, are unsuitable in any other way to
             participate in this study including being unable to comply with the requirements of
             the study for any reason.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 5 Years old.
Subject must be at most 35 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