Clinical trial: Single Dose Pharmacokinetic (PK) Study (NCT03109756)

Eligibility criteria:
Inclusion Criteria:

          1. Adolescents with confirmed clinical and previous molecular diagnosis of FXS or AS, age
             between 13 to 17 years, inclusive.

          2. Subjects must assent to participation in the study (if appropriate), have a parent or
             legal guardian/representative capable of providing informed consent on behalf of the
             subject, and commit to participate in all assessments described in the protocol.

          3. Subjects must be receiving a stable dose of concomitant medications

          4. Subjects should be able to complete study assessments.

          5. Subjects who are non-sterile must agree to either remain completely abstinent or to
             use two effective contraceptive methods from screening until 7 days after the last
             dose of study treatment.

          6. Subjects must have a parent or other reliable caregiver who agrees to accompany the
             subject at all study visits and provide information about the subject as required by
             the study protocol, and ensure compliance with the protocol.

        Exclusion Criteria:

          1. Inability to swallow a capsule.

          2. Poorly controlled seizures

          3. Clinically significant abnormal ECG at the time of screening.

          4. Positive result on serum or urine pregnancy test for women of child-bearing potential
             (have experienced menarche) who are not using a dual method of contraception (e.g.,
             condoms plus oral contraceptives), with abstinence being an accepted method.

          5. Allergy to gaboxadol or any excipients

          6. Concomitant cardiovascular, respiratory, liver, renal, or hematologic diseases of a
             degree that would limit participation in the study

          7. History of suicidal behavior or considered a high suicidal risk by the investigator.

          8. Any medical, psychological, social disorder(s), or other conditions - including
             seizure disorder
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 13 Years old.
Subject must be at most 17 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? Entailment