Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome

Primary Outcome Measures:

• Eye Contact/Gaze During 10 Minute Social Challenge Task [ Time Frame: baseline, week 2, and week 3 ] [ Designated as safety issue: No ]
  Number of times that eye gaze occurred (i.e., participant looked at female experimenter in the eyes) during 10 minute social challenge task (first 5 minutes social proximity, second 5 minutes social interaction). The social challenge task occurred 50 minutes after internasal dose (of placebo, placebo + oxytocin, or oxytocin) at baseline, week 2, and week 3 visits.
  
  

Secondary Outcome Measures:

• Salivary Cortisol [ Time Frame: baseline, week 2, and week 3 ] [ Designated as safety issue: No ]
  salivary cortisol level measured immediately before social challenge task and 20 minutes following social challenge task at each time point (i.e., baseline, week 2, and week 3)
  
  

Twelve male adolescent (13-24 years) subjects with confirmed genetic diagnosis of FraX (full mutation) will participate in this randomized double-blind placebo-controlled study. They will receive a dose of either 24 IU oxytocin, 48 IU oxytocin or placebo at each of three visits to the lab, with each visit spaced one week apart. The efficacy of each dose will be evaluated using behavioral, cognitive and physiological metrics. If individual subject results suggest that either of the oxytocin dosage levels (24 IU or 48 IU) is superior to placebo in the double-blind phase, a single-blind trial using the optimal dosage of oxytocin will then be administered daily for 14 days by parents at home. Subjects will then come into the lab for a final assessment on Day 30. Determination of beneficial response to oxytocin will be based on a 20% change (improvement) in behavior or test performance (see below). If both oxytocin dosage levels provide similar benefits compared to placebo, the lower dose will be chosen for the 14 day single-blind trial.