Objectives: The purpose of this study was to evaluate the efficacy of the approved formulation of sapropterin on the core symptoms of autism in young children.
Methods: This was a double-blind, placebo-controlled, 16-week trial followed by an open-label extension. In the placebo-controlled study, participants were 46 children (3-6 years old) with ASD. The primary outcome measure was the CGI-I Scale; secondary measures assessed social interactions, language, and odd behaviors, as well as side effects. Participants were randomized to 20 mg/kg/day of sapropterin or placebo. Behavioral and safety measures were collected at baseline, 8, and 16 weeks. In the open-label study, participants were 30 children who successfully completed the double-blind placebo-controlled arm of the study. Primary and secondary outcome measures were the same as those used in the placebo-controlled study.
Results: Participants were 83% male, 46% white, and an average age of 60 months; 76% received at least one concurrent complementary medication. At 16-weeks, the placebo (n=23) and sapropterin (n=23) groups showed similar proportions with a CGI-I of 1 (Very Much Improved) (4.5% vs. 0.0%) and 2 (Much Improved) (9.1% vs. 25.0%). Compared to placebo, sapropterin subjects had significant improvement, with moderate effect sizes, in social interaction and expressive language. BH4 was well-tolerated with few side effects. Open-label data is still being collected.
Conclusions: At 16 week, the primary outcome measure of global clinical improvement was not different for active treatment vs. placebo; however, analyses of secondary measures yielded statistically significant differences suggesting that BH4 may enhance development in social interaction and in language in young individuals with an autism spectrum disorder and that it is generally well tolerated even at the relatively high dose used in this study. The open-label extension will help us to determine extended safety profiles as some children will have been on the medication for 8 months. It will also help us discern patterns of improvement and if they plateau with regard to change.
See more of: Treatments: A: Social Skills; School, Teachers
See more of: Prevalence, Risk factors & Intervention