Design and implementation of the first randomized controlled trial of coenzyme Q10 in children with primary mitochondrial diseases

We report the design and implementation of the first phase 3 trial of CoenzymeQ10 (CoQ10) in children with genetic mitochondrial diseases. A novel, rigorous set of eligibility criteria was established. The trial, which remains open to recruitment, continues to address multiple challenges to the recruitment of patients, including widely condoned empiric use of CoQ10 by individuals with proven or suspected mitochondrial disease and skepticism among professional and lay mitochondrial disease communities about participating in placebo-controlled trials. These attitudes represent significant barriers to the ethical and scientific evaluation – and ultimate approval – of nutritional and pharmacological therapies for patients with life-threatening inborn errors of energy metabolism.

► First phase 3 trial of CoQ10 in children with mitochondrial diseases. ► Rigorous, laboratory-based diagnostic and eligibility criteria applicable to future trials. ► Novel and extensive patient recruitment strategies applicable to future trials. ► Inclusion of qualitative and quantitative clinical endpoints important to patient home functionality.