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Treatment for mitochondrial disorders.

P Chinnery1, K Majamaa, D Turnbull

  • 1University of Newcastle upon Tyne, Department of Neurology, Medical School, Framlington Place, Newcastle Upon Tyne, UK, NE24 4HH. p.f.chinnery@ncl.ac.uk

The Cochrane Database of Systematic Reviews
|January 27, 2006
PubMed
Summary

Current treatments for mitochondrial diseases lack clear evidence of effectiveness. Further research is essential to establish the role of various therapeutic approaches for these inherited neurometabolic disorders.

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • Mitochondrial respiratory chain disorders are common inherited neurometabolic diseases.
  • These disorders cause neurological symptoms and affect multiple organs, leading to significant morbidity and mortality.
  • Current treatments are primarily supportive, with unclear efficacy.

Purpose of the Study:

  • To evaluate objective evidence supporting current treatments for mitochondrial diseases.
  • To determine the efficacy of pharmacological agents, vitamin supplements, and exercise therapy.

Main Methods:

  • Systematic review of randomized controlled trials (RCTs) and quasi-RCTs.
  • Searched multiple databases including Cochrane, MEDLINE, EMBASE, and contacted experts.
  • Included studies assessing muscle strength, endurance, neurological features, quality of life, and biochemical markers.

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Main Results:

  • Six trials met inclusion criteria, evaluating co-enzyme Q10, creatine, dichloroacetate, and dimethylglycine.
  • Results were mixed: some studies showed subjective or minor improvements, while others found no significant benefit.
  • No intervention demonstrated consistent, significant positive effects across trials.

Conclusions:

  • Currently, there is insufficient clear evidence to support the use of any specific intervention for mitochondrial disorders.
  • Further rigorous research is required to establish effective therapeutic strategies.
  • The role of various treatments needs to be clarified through additional studies.