Why are there no proven therapies for genetic mitochondrial diseases?

Mitochondrion. 2011 Sep;11(5):679-85. doi: 10.1016/j.mito.2011.05.002. Epub 2011 May 13.


Although mitochondrial disease research in general is robust, adequate treatment of these life-threatening conditions has lagged, partly because of a persistence of clinical anecdotes as substitutes for scientifically and ethically rigorous clinical trials. Here I summarize the key lessons learned from some of the "first generation" of randomized controlled trials for genetic mitochondrial diseases and suggest how future trials may benefit from both past experience and exciting new resources available for patient-oriented research and training in this field.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acidosis, Lactic / congenital
  • Acidosis, Lactic / drug therapy
  • Animals
  • Dichloroacetic Acid / therapeutic use
  • Financing, Government
  • Humans
  • MELAS Syndrome / drug therapy
  • Mitochondrial Diseases / drug therapy*
  • Mitochondrial Diseases / genetics*
  • Neglected Diseases / drug therapy
  • Randomized Controlled Trials as Topic / economics
  • Randomized Controlled Trials as Topic / trends
  • Rare Diseases / drug therapy
  • Societies, Medical / economics
  • Societies, Medical / organization & administration
  • Ubiquinone / analogs & derivatives
  • Ubiquinone / therapeutic use
  • United States


  • Ubiquinone
  • Dichloroacetic Acid
  • coenzyme Q10