Emerging research suggests that mitochondrial (mt) dysfunction is important in the pathogenesis of autism spectrum disorder (ASD). The hypothesis of this open-label pilot trial was that patients with ASD and mt dysfunction would improve clinically and biochemically following treatment with combination of carnitine, coenzyme Q10 and alpha-lipoic acid (MitoCocktail).

Participants fulfilled diagnostic criteria for ASD and had abnormal buccal swab mt RCC (respiratory chain complexes) I and/or IV activity. Eleven patients aged 5-12 years, received MitoCocktail daily for 3 months. Behavioral outcome was evaluated with Autism Diagnostic Observation Schedule (ADOS-2), Autism Spectrum Rating Scale (ASRS) and Aberrant Behavior Checklist (ABC) at baseline (T1), 3 months into treatment (T2), and 3 months post-treatment (T3). Three scores from ADOS-2, 3 from ASRS, and 5 from ABC were contrasted at T1, T2 and T3. RCC I and IV were measured across these time points. For statistical analysis paired t-tests were used.

RCC I/IV ratio was significantly (p<0.02) reduced during MitoCocktail treatment. All subjects showed at least one sign of metabolic improvement, which waned 3 months post-treatment in 7/11 participants. All of the 11 total or subscale mean scores improved from T1 to T2. Significant changes were observed for Unusual Behavior subscale from ASRS (p<0.006), Lethargy subscale from ABC (p <0.01), and Inappropriate Speech subscale from ABC (p<0.02). From T2 to T3, scores worsened on these three subscales being significant for Lethargy (p<0.01) and Inappropriate Speech (p<0.007).

This small pilot study supports the hypothesis that MitoCocktail may have a therapeutic benefit in ASD.