Chronic treatment of mitochondrial disease patients with dichloroacetate

Mol Genet Metab. 2004 Sep-Oct;83(1-2):138-49. doi: 10.1016/j.ymgme.2004.06.009.

Abstract

Clinical features are reported for 37 patients with various mitochondrial disorders, treated with sodium dichloroacetate (DCA) for 3 weeks to 7 years (mean 3.25 years) at 11-50 mg/kg/day (34.6+/-13.1) in an open-label format. DCA pharmacokinetics showed half-times approximately 86 min for the first intravenous dose of 50 mg/kg, 3.2 h for a subsequent intravenous dose 4-6 h later, and 11 h after continued oral dosing of 12.5-25 mg/kg twice daily. Basal blood and CSF lactate (mean values at entry 29.6 and 46.8 mg/dL, respectively) decreased at 3 months (to 18.1 and 34.2, respectively) and 12 months (to 17.7 and 33.1, respectively). There was some attenuation of the blood lactate response to oral fructose but not glucose, although the baseline lactate was lower with DCA. A standardized neurologic inventory showed stabilization or improvement over one year. The subjective impression of overall disease course was worsening in 21.6%, improvement in 48.6%, and no discernable effect in 29.7%. Among 8 patients who had 17 stroke-like events in 0.25-5 years prior to study entry, there were a total of 2 events over 3-6 years of treatment. In two cases institution of DCA resulted in dramatic relief of severe headaches which had been refractory to narcotics. Given variability of symptoms and limited understanding of natural history of mitochondrial disease, it is difficult to determine the efficacy of DCA in this open-label study, but there did appear to be some cases in which there were at least temporary benefits.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Blood Glucose / analysis
  • Child
  • Child, Preschool
  • Dichloroacetic Acid / administration & dosage
  • Dichloroacetic Acid / pharmacokinetics
  • Dichloroacetic Acid / therapeutic use*
  • Dose-Response Relationship, Drug
  • Female
  • Humans
  • Infant
  • Lactic Acid / blood
  • Lactic Acid / cerebrospinal fluid
  • Liver Function Tests
  • Male
  • Middle Aged
  • Mitochondrial Diseases / drug therapy*
  • Mitochondrial Diseases / metabolism
  • Pyruvic Acid / blood
  • Pyruvic Acid / cerebrospinal fluid
  • Treatment Outcome

Substances

  • Blood Glucose
  • Lactic Acid
  • Pyruvic Acid
  • Dichloroacetic Acid